Professor Nils P Krone

All publications

Journal articles

• Lawrence NR, Krone NP, Dawson JF, Lang ZQ, Arlt W, Brac de la Perriere A, Hirschberg AL, Juul A, Merke DP, Newell-Price JD , Prete A et al (2024) 6437 Analysis of 17-OH-progesterone (17OHP) and androstenedione (A4) profiles to rationalise biochemical monitoring of CAH patients. Journal of the Endocrine Society, 8(Supplement_1). View this article in WRRO
• Bacila I-A, Lawrence NR, Badrinath SG, Balagamage C & Krone NP (2023) Biomarkers in congenital adrenal hyperplasia.. Clin Endocrinol (Oxf).
• Tonge JJ, Stevens O, Dawson J, Hawley D, Kerrison C, Krone N, Maltby SL, McMahon A-M, Shackley F, Talekar R , Gonzalez-Martinez C et al (2023) Assessing the Response of Biomarkers to Anti-Inflammatory Medications in PIMS-TS by Longitudinal Multilevel Modeling: Real-World Data from a UK Tertiary Center. Pediatric Allergy, Immunology, and Pulmonology, 36(3), 94-103.
• Ross J, Fridman M, Kelepouris N, Murray K, Krone N, Polak M, Rohrer TR, Pietropoli A, Lawrence N & Backeljauw P (2023) Factors associated with response to growth hormone in pediatric growth disorders: results of a 5-year registry analysis. Journal of the Endocrine Society, 7(5).
• Ali SR, Bryce J, Krone N, Claahsen-van der Grinten H & Ahmed SF (2022) PMON191 Current Management of Acute Adrenal Insufficiency Related Adverse Events in Children with Congenital Adrenal Hyperplasia- Results of an International Survey of Specialist Centres. Journal of the Endocrine Society, 6(Supplement_1), A621-A621.
• Ross JL, Fridman M, Kelepouris N, Murray K, Krone NP, Polak M, Nedjatian N, Rohrer TR, Pietropoli A, Lawrence N & Backeljauw PF (2022) LBMON197 Predictors Of Response To Growth Hormone Treatment In Pediatric Growth Disorders: Analysis From The Answer Program And Nordinet® IOS. Journal of the Endocrine Society, 6(Supplement_1), A592-A592.
• Bacila I, Lawrence NR, Mahdi S, Alvi S, Cheetham TD, Crowne E, Das U, Dattani MT, Davies JH, Gevers E , Krone RE et al (2022) Health status of children and young persons with congenital adrenal hyperplasia in the UK (CAH-UK): a cross-sectional multi-centre study. European Journal of Endocrinology, 187(4), 543-553.
• Kanczkowski W, Gaba WH, Krone N, Varga Z, Beuschlein F, Hantel C, Andoniadou C & Bornstein SR (2022) Adrenal Gland Function and Dysfunction During COVID-19. Hormone and Metabolic Research, 54(08), 532-539.
• Ali SR, Bryce J, Krone NP, Claahsen van der Grinten HL & Ahmed SF (2022) Management Of Acute Adrenal Insufficiency Related Adverse Events In Children With Congenital Adrenal Hyperplasia - Results Of An International Survey Of Specialist Centres. Hormone Research in Paediatrics.
• Neumann U, van der Linde A, Krone RE, Krone NP, Güven A, Güran T, Elsedfy H, Poyrazoglu S, Darendeliler F, Bachega TA , Balsamo A et al (2022) Treatment of congenital adrenal hyperplasia in children aged 0-3 years: A retrospective multicenter analysis of salt supplementation, glucocorticoid and mineralocorticoid medication, growth and blood pressure. European Journal of Endocrinology.
• Sun M, Mueller JW, Gilligan LC, Taylor AE, Shaheen F, Noczyńska A, T’Sjoen G, Denvir L, Shenoy S, Fulton P , Cheetham TD et al (2021) The broad phenotypic spectrum of 17α-hydroxylase/17,20-lyase (CYP17A1) deficiency : a case series. European Journal of Endocrinology, 185(5), 729-741.
• TH J, AM A, SF A, YB DR, RF G, MF H, O H, PM H, NP K, A K , ML L et al (2021) Peptide hormone analysis in diagnosis and treatment of Differences of Sex Development: joint position paper of EU COST Action ‘DSDnet’ and European Reference Network on Rare Endocrine Conditions.
• Lucas-Herald AK, Bryce J, Kyriakou A, Ljubicic ML, Arlt W, Audí L, Balsamo A, Baronio F, Bertelloni S, Bettendorf M , Brooke A et al (2021) Gonadectomy in conditions affecting sex development: a registry-based cohort study. European Journal of Endocrinology, 184(6), 791-801.
• Bacila I, Cunliffe VT & Krone NP (2021) Interrenal development and function in zebrafish. Molecular and Cellular Endocrinology, 535, 111372-111372.
• Ahmed SF, Achermann JC, Alderson J, Crouch NS, Elford S, Hughes IA, Krone NP, McGowan R, Mushtaq T, O'Toole S , Perry L et al (2021) Society for Endocrinology UK Guidance On The Initial Evaluation Of A Suspected Difference or Disorder Of Sex Development (DSD) (Revised 2021).. Clin Endocrinol (Oxf).
• Buonocore F, Maharaj A, Qamar Y, Koehler K, Suntharalingham JP, Chan LF, Ferraz-de-Souza B, Hughes CR, Lin L, Prasad R , Allgrove J et al (2021) Genetic analysis of pediatric primary adrenal insufficiency of unknown etiology: 25 years’ experience in the UK. Journal of the Endocrine Society.
• Lawrence NR, Bacila I-A, Mahdi S, Albi S, Cheetham TD, Crowne EC, Das U, Dawson J, Dattani MT, Davies J , Gevers E et al (2021) Quality of Life in Children and Young People With Congenital Adrenal Hyperplasia in the United Kingdom - Nationwide Multicentre Assessment. Journal of the Endocrine Society, 5(Suppl 1), a720-a720.
• Bacila I-A, Lawrence N, Mahdi S, Alvi S, Cheetham T, Crowne E, Das U, Dattani M, Davies JH, Gevers EF , Krone R et al (2021) Health Status of Children and Young Persons With Congenital Adrenal Hyperplasia in the United Kingdom: Results of a Multi-Center Cohort Study. Journal of the Endocrine Society, 5(Suppl 1), a717-a717.
• Husebye ES, Pearce SH, Krone NP & Kämpe O (2021) Adrenal insufficiency. The Lancet, 397(10274), 613-629.
• Bacila I, Freeman N, Daniel E, Sandrk M, Bryce J, Ali SR, Yavas Abalı Z, Atapattu N, Bachega TA, Balsamo A , Birkebæk N et al (2021) International practice of corticosteroid replacement therapy in congenital adrenal hyperplasia - data from the I-CAH registry. European Journal of Endocrinology.
• Oakes JA, Barnard L, Storbeck K-H, Cunliffe VT & Krone NP (2020) 11β-Hydroxylase loss disrupts steroidogenesis and reproductive function in zebrafish. Journal of Endocrinology, 247(2), 197-212. View this article in WRRO
• TH J, AM A, SF A, YB DR, RF G, MF H, O H, PM H, NP K, A K , ML L et al (2020) Peptide hormone analysis in diagnosis and treatment of differences of sex development: Joint position paper of EU COST action ‘DSDnet’ and european reference network on rare endocrine conditions.
• Weger M, Weger BD, Schink A, Takamiya M, Stegmaier J, Gobet C, Parisi A, Kobitski AY, Mertes J, Krone N , Strähle U et al (2020) MondoA regulates gene expression in cholesterol biosynthesis-associated pathways required for zebrafish epiboly. eLife, 9.
• Johannsen TH, Andersson A-M, Ahmed SF, de Rijke YB, Greaves RF, Hartmann MF, Hiort O, Holterhus P-M, Krone NP, Kulle A , Ljubicic ML et al (2020) Peptide hormone analysis in diagnosis and treatment of Differences of Sex Development: joint position paper of EU COST Action ‘DSDnet’ and European Reference Network on Rare Endocrine Conditions. European Journal of Endocrinology, 182(6), P1-P15.
• Li N, Oakes JA, Storbeck K-H, Cunliffe VT & Krone N (2020) The P450 side chain cleavage enzyme Cyp11a2 facilitates steroidogenesis in zebrafish. Journal of Endocrinology, 244(2), 309-321. View this article in WRRO
• Pofi R, Prete A, Thornton-Jones V, Bryce J, Ali SR, Ahmed SF, Balsamo A, Baronio F, Cannuccia A, Guven A , Guran T et al (2020) Plasma Renin Measurements are Unrelated to Mineralocorticoid Replacement Dose in Patients With Primary Adrenal Insufficiency. The Journal of Clinical Endocrinology & Metabolism, 105(1), 314-326.
• Bacila I, Adaway J, Hawley J, Mahdi S, Krone R, Patel L, Alvi S, Randell T, Gevers E, Dattani M , Cheetham T et al (2019) Measurement of Salivary Adrenal-Specific Androgens as Biomarkers of Therapy Control in 21-Hydroxylase Deficiency. The Journal of Clinical Endocrinology & Metabolism, 104(12), 6417-6429.
• Belavgeni A, Bornstein SR, von Mässenhausen A, Tonnus W, Stumpf J, Meyer C, Othmar E, Latk M, Kanczkowski W, Kroiss M , Hantel C et al (2019) Exquisite sensitivity of adrenocortical carcinomas to induction of ferroptosis. Proceedings of the National Academy of Sciences, 116(44), 22269-22274.
• Reisch N, Taylor AE, Nogueira EF, Asby DJ, Dhir V, Berry A, Krone N, Auchus RJ, Shackleton CHL, Hanley NA & Arlt W (2019) Alternative pathway androgen biosynthesis and human fetal female virilization. Proceedings of the National Academy of Sciences, 116(44), 22294-22299. View this article in WRRO
• Oakes JA, Li N, Wistow BRC, Griffin A, Barnard L, Storbeck K-H, Cunliffe VT & Krone NP (2019) Ferredoxin 1b deficiency leads to testis disorganization, impaired spermatogenesis and feminization in zebrafish.. Endocrinology. View this article in WRRO
• Bacila I-A, Elder C & Krone N (2019) Update on adrenal steroid hormone biosynthesis and clinical implications. Archives of Disease in Childhood. View this article in WRRO
• Hughes LA, McKay Bounford K, Webb E, Dasani P, Clokie S, Chandran H, McCarthy L, Mohamed Z, Kirk JMW, Krone N , Allen S et al (2019) Next generation sequencing (NGS) to improve the diagnosis and management of patients with disorders of sex development (DSD).. Endocrine Connections. View this article in WRRO
• Bornstein SR, Steenblock C, Chrousos GP, Schally AV, Beuschlein F, Kline G, Krone NP, Licinio J, Wong ML, Ullmann E , Ruiz-Babot G et al (2019) Stress-inducible-stem cells: a new view on endocrine, metabolic and mental disease?. Molecular Psychiatry, 24(1), 2-9.
• Idkowiak J, Elhassan YS, Mannion P, Smith K, Webster R, Saraff V, Barrett TG, Shaw NG, Krone N, Dias RP , Kershaw M et al (2018) Causes, patterns and severity of androgen excess in 487 consecutively recruited pre- and post-pubertal children. European Journal of Endocrinology. View this article in WRRO
• Tack LJW, Maris E, Looijenga LHJ, Hannema SE, Audi L, Köhler B, Holterhus P-M, Riedl S, Wisniewski A, Flück CE , Davies JH et al (2018) Management of Gonads in Adults with Androgen Insensitivity: An International Survey. Hormone Research in Paediatrics, 90(4), 236-246.
• Audí L, Ahmed SF, Krone N, Cools M, McElreavey K, Holterhus PM, Greenfield A, Bashamboo A, Hiort O, Wudy SA , McGowan R et al (2018) GENETICS IN ENDOCRINOLOGY: Approaches to molecular genetic diagnosis in the management of differences/disorders of sex development (DSD): position paper of EU COST Action BM 1303 ‘DSDnet’. European Journal of Endocrinology, 179(4), R197-R206. View this article in WRRO
• Weger M, Weger BD, Görling B, Poschet G, Yildiz M, Hell R, Luy B, Akcay T, Güran T, Dickmeis T , Müller F et al (2018) Glucocorticoid deficiency causes transcriptional and post-transcriptional reprogramming of glutamine metabolism. EBioMedicine, 36, 376-389. View this article in WRRO
• Weger M, Diotel N, Weger BD, Beil T, Zaucker A, Eachus HL, Oakes JA, do Rego JL, Storbeck K-H, Gut P , Strähle U et al (2018) Expression and activity profiling of the steroidogenic enzymes of glucocorticoid biosynthesis and the fdx1 co-factors in zebrafish. Journal of Neuroendocrinology, 30(4). View this article in WRRO
• Cross AS, Helen Kemp E, White A, Walker L, Meredith S, Sachdev P, Krone NP, Ross RJ, Wright NP & Elder CJ (2018) International survey on high- and low-dose synacthen test and assessment of accuracy in preparing low-dose synacthen. Clinical Endocrinology, 88(5), 744-751. View this article in WRRO
• Webb EA, Elliott L, Carlin D, Wilson M, Hall K, Netherton J, Reed J, Barrett TG, Salwani V, Clayden JD , Arlt W et al (2018) Quantitative Brain MRI in Congenital Adrenal Hyperplasia: In Vivo Assessment of the Cognitive and Structural Impact of Steroid Hormones. The Journal of Clinical Endocrinology & Metabolism, 103(4), 1330-1341. View this article in WRRO
• Eachus H, Zaucker A, Oakes JA, Griffin A, Weger M, Güran T, Taylor A, Harris A, Greenfield A, Quanson JL , Storbeck K-H et al (2017) Genetic disruption of 21-hydroxylase in zebrafish causes interrenal hyperplasia. Endocrinology, 158(12), 4165-4173. View this article in WRRO
• Poyrazoglu S, Darendeliler F, Ahmed SF, Hughes I, Bryce J, Jiang J, Rodie M, Hiort O, Hannema SE, Bertelloni S , Lisa L et al (2017) Birth weight in different etiologies of disorders of sex development. Journal of Clinical Endocrinology and Metabolism, 102(3), 1044-1050. View this article in WRRO
• Kulle A, Krone N, Holterhus PM, Schuler G, Greaves R, Juul A, de Rijke Y, Hartmann M, Saba A, Hiort O & Wudy S (2017) DIAGNOSIS OF ENDOCRINE DISEASE: Steroid Hormone Analysis in Diagnosis and Treatment of DSD Position Paper of EU COST Action BM 1303 "DSDnet".. European Journal of Endocrinology. View this article in WRRO
• Mooij CF, Webb EA, Claahsen van der Grinten HL & Krone N (2016) Cardiovascular health, growth and gonadal function in children and adolescents with congenital adrenal hyperplasia.. Archives of Disease in Childhood. View this article in WRRO
• Weger BD, Weger M, Görling B, Schink A, Gobet C, Keime C, Poschet G, Jost B, Krone N, Hell R , Gachon F et al (2016) Extensive Regulation of Diurnal Transcription and Metabolism by Glucocorticoids. PLoS Genetics, 12(12). View this article in WRRO
• Jones CM, Mallappa A, Reisch N, Nikolaou N, Krone N, Hughes BA, O’Neil DM, Whitaker MJ, Tomlinson JW, Storbeck K-H , Merke DP et al (2016) Modified release and conventional glucocorticoids and diurnal androgen excretion in congenital adrenal hyperplasia. The Journal of Clinical Endocrinology & Metabolism, jc.2016-2855-jc.2016-2855. View this article in WRRO
• Ahmed SF, Achermann JC, Arlt W, Balen A, Conway G, Edwards Z, Elford S, Hughes IA, Izatt L, Krone N , Miles H et al (2016) Society for Endocrinology UK guidance on the initial evaluation of an infant or an adolescent with a suspected disorder of sex development (Revised 2015). Clinical Endocrinology, 84(5), 771-788. View this article in WRRO
• Dhillon N, Karthikeyan A, Castle A, Dodson P, Högler W, Kirk J, Krone N, Nolan J & Barrett T (2016) Natural history of retinopathy in children and young people with type 1 diabetes. Eye, 30(7), 987-981. View this article in WRRO
• Griffin A, Parajes S, Weger M, Zaucker A, Taylor AE, O'Neil DM, Müller F & Krone N (2016) Ferredoxin 1b (Fdx1b) Is the Essential Mitochondrial Redox Partner for Cortisol Biosynthesis in Zebrafish. Endocrinology, 157(3), 1122-1134. View this article in WRRO
• Mooij CF, Parajes S, Rose IT, Taylor AE, Bayraktaroglu T, Wass JAH, Connell JMC, Ray DW, Arlt W & Krone N (2015) Characterization of the molecular genetic pathology in patients with 11β-hydroxylase deficiency. Clinical Endocrinology, 83(5), 629-635.
• Pijnenburg-Kleizen KJ, Engels M, Mooij CF, Griffin A, Krone N, Span PN, van Herwaarden AE, Sweep FCGJ & Claahsen-van der Grinten HL (2015) Adrenal Steroid Metabolites Accumulating in Congenital Adrenal Hyperplasia Lead to Transactivation of the Glucocorticoid Receptor. Endocrinology, 156(10), 3504-3510.
• Nasiri M, Nikolaou N, Parajes S, Krone NP, Valsamakis G, Mastorakos G, Hughes B, Taylor A, Bujalska IJ, Gathercole LL & Tomlinson JW (2015) 5α-Reductase Type 2 Regulates Glucocorticoid Action and Metabolic Phenotype in Human Hepatocytes. Endocrinology, 156(8), 2863-2871.
• Webb EA & Krone N (2015) Current and novel approaches to children and young people with congenital adrenal hyperplasia and adrenal insufficiency. Best Practice & Research Clinical Endocrinology & Metabolism, 29(3), 449-468.
• Mooij CF, Parajes S, Pijnenburg-Kleizen KJ, Arlt W, Krone N & Claahsen-van der Grinten HL (2015) Influence of 17-Hydroxyprogesterone, Progesterone and Sex Steroids on Mineralocorticoid Receptor Transactivation in Congenital Adrenal Hyperplasia. Hormone Research in Paediatrics, 83(6), 414-421.
• Krone N, Webb EA & Hindmarsh PC (2015) Keeping the pressure on mineralocorticoid replacement in congenital adrenal hyperplasia. Clinical Endocrinology, 82(4), 478-480.
• Turkkahraman D, Guran T, Ivison H, Griffin A, Vijzelaar R & Krone N (2015) Identification of a Novel Large CYP17A1 Deletion by MLPA Analysis in a Family with Classic 17a-Hydroxylase Deficiency. Sexual Development, 9(2), 91-97.
• Durkovic J, Milenkovic T, Krone N, Parajes S & Mandic B (2014) Low estriol levels in the maternal marker screen as a predictor of X-linked adrenal hypoplasia congenita: Case report. Srpski arhiv za celokupno lekarstvo, 142(11-12), 728-731.
• Kolesinska Z, Ahmed SF, Niedziela M, Bryce J, Molinska-Glura M, Rodie M, Jiang J, Sinnott RO, Hughes IA, Darendeliler F , Hiort O et al (2014) Changes Over Time in Sex Assignment for Disorders of Sex Development. PEDIATRICS, 134(3), e710-e715.
• Han TS, Conway GS, Willis DS, Krone N, Rees DA, Stimson RH, Arlt W, Walker BR & Ross RJ (2014) Relationship Between Final Height and Health Outcomes in Adults With Congenital Adrenal Hyperplasia: United Kingdom Congenital Adrenal Hyperplasia Adult Study Executive (CaHASE). The Journal of Clinical Endocrinology & Metabolism, 99(8), E1547-E1555.
• Rogers SL, Hughes BA, Jones CA, Freedman L, Smart K, Taylor N, Stewart PM, Shackleton CHL, Krone NP, Blissett J & Tomlinson JW (2014) Diminished 11β-Hydroxysteroid Dehydrogenase Type 2 Activity Is Associated With Decreased Weight and Weight Gain Across the First Year of Life. The Journal of Clinical Endocrinology & Metabolism, 99(5), E821-E831.
• Krone N (2014) Care provision in congenital adrenal hyperplasia - all doom and gloom or light at the end of the tunnel?. Clinical Endocrinology, 80(4), 469-470.
• Cox K, Bryce J, Jiang J, Rodie M, Sinnott R, Alkhawari M, Arlt W, Audi L, Balsamo A, Bertelloni S , Cools M et al (2014) Novel Associations in Disorders of Sex Development: Findings From the I-DSD Registry. The Journal of Clinical Endocrinology & Metabolism, 99(2), E348-E355.
• Ellaithi M, Werner R, Riepe FG, Krone N, Kulle AE, Diab T, Kamel AK, Arlt W, Holterhus P-M, Sabir O & Hiort O (2014) 46,XY Disorder of Sex Development in a Sudanese Patient Caused by a Novel Mutation in theHSD17B3Gene. Sexual Development, 8(4), 151-155.
• Reisch N, Rottenkolber M, Greifenstein A, Krone N, Schmidt H, Reincke M, Schwarz H-P & Beuschlein F (2013) Testicular Adrenal Rest Tumors Develop Independently of Long-Term Disease Control: A Longitudinal Analysis of 50 Adult Men With Congenital Adrenal Hyperplasia due to Classic 21-Hydroxylase Deficiency. The Journal of Clinical Endocrinology & Metabolism, 98(11), E1820-E1826.
• Reisch N, Högler W, Parajes S, Rose IT, Dhir V, Götzinger J, Arlt W & Krone N (2013) A Diagnosis Not to Be Missed: Nonclassic Steroid 11β-Hydroxylase Deficiency Presenting With Premature Adrenarche and Hirsutism. The Journal of Clinical Endocrinology & Metabolism, 98(10), E1620-E1625.
• Parajes S, Griffin A, Taylor AE, Rose IT, Miguel-Escalada I, Hadzhiev Y, Arlt W, Shackleton C, Müller F & Krone N (2013) Redefining the Initiation and Maintenance of Zebrafish Interrenal Steroidogenesis by Characterizing the Key Enzyme Cyp11a2. Endocrinology, 154(8), 2702-2711.
• Han TS, Krone N, Willis DS, Conway GS, Hahner S, Rees DA, Stimson RH, Walker BR, Arlt W, Ross RJ & _ _ (2013) Quality of life in adults with congenital adrenal hyperplasia relates to glucocorticoid treatment, adiposity and insulin resistance: United Kingdom Congenital adrenal Hyperplasia Adult Study Executive (CaHASE). European Journal of Endocrinology, 168(6), 887-893. View this article in WRRO
• Reisch N, Idkowiak J, Hughes BA, Ivison HE, Abdul-Rahman OA, Hendon LG, Olney AH, Nielsen S, Harrison R, Blair EM , Dhir V et al (2013) Prenatal Diagnosis of Congenital Adrenal Hyperplasia Caused by P450 Oxidoreductase Deficiency. The Journal of Clinical Endocrinology & Metabolism, 98(3), E528-E536.
• Lavery GG, Idkowiak J, Sherlock M, Bujalska I, Ride JP, Saqib K, Hartmann MF, Hughes B, Wudy SA, De Schepper J , Arlt W et al (2013) Novel H6PDH mutations in two girls with premature adrenarche: ‘apparent’ and ‘true’ CRD can be differentiated by urinary steroid profiling. European Journal of Endocrinology, 168(2), K19-K26.
• Han TS, Stimson RH, Rees DA, Krone N, Willis DS, Conway GS, Arlt W, Walker BR & Ross RJ (2013) Glucocorticoid treatment regimen and health outcomes in adults with congenital adrenal hyperplasia. Clinical Endocrinology, 78(2), 197-203.
• Krone N, Rose IT, Willis DS, Hodson J, Wild SH, Doherty EJ, Hahner S, Parajes S, Stimson RH, Han TS , Carroll PV et al (2013) Genotype-Phenotype Correlation in 153 Adult Patients With Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency: Analysis of the United Kingdom Congenital Adrenal Hyperplasia Adult Study Executive (CaHASE) Cohort. The Journal of Clinical Endocrinology & Metabolism, 98(2), E346-E354.
• Parajes S, Chan AO, But WM, Rose IT, Taylor AE, Dhir V, Arlt W & Krone N (2012) Delayed diagnosis of adrenal insufficiency in a patient with severe penoscrotal hypospadias due to two novel P450 side-change cleavage enzyme (CYP11A1) mutations (p.R360W; p.R405X). European Journal of Endocrinology, 167(6), 881-885.
• Idkowiak J, Randell T, Dhir V, Patel P, Shackleton CHL, Taylor NF, Krone N & Arlt W (2012) A Missense Mutation in the Human Cytochrome b5 Gene causes 46,XY Disorder of Sex Development due to True Isolated 17,20 Lyase Deficiency. The Journal of Clinical Endocrinology & Metabolism, 97(3), E465-E475.
• Krone N, Reisch N, Idkowiak J, Dhir V, Ivison HE, Hughes BA, Rose IT, O'Neil DM, Vijzelaar R, Smith MJ , MacDonald F et al (2012) Genotype-Phenotype Analysis in Congenital Adrenal Hyperplasia due to P450 Oxidoreductase Deficiency. The Journal of Clinical Endocrinology & Metabolism, 97(2), E257-E267.
• Arlt W, Biehl M, Taylor AE, Hahner S, Libé R, Hughes BA, Schneider P, Smith DJ, Stiekema H, Krone N , Porfiri E et al (2011) Urine Steroid Metabolomics as a Biomarker Tool for Detecting Malignancy in Adrenal Tumors. The Journal of Clinical Endocrinology & Metabolism, 96(12), 3775-3784.
• Abid N, Porter L, Day E, Krone N, Högler W, Kirk J, Shaw N & Barrett T (2011) Differences in metabolic effects of twice daily versus multiple daily insulin injections in children with type 1 diabetes. Practical Diabetes, 28(9), 384-387.
• Parajes S, Kamrath C, Rose IT, Taylor AE, Mooij CF, Dhir V, Grötzinger J, Arlt W & Krone N (2011) A Novel Entity of Clinically Isolated Adrenal Insufficiency Caused by a Partially Inactivating Mutation of the Gene Encoding for P450 Side Chain Cleavage Enzyme (CYP11A1). The Journal of Clinical Endocrinology & Metabolism, 96(11), E1798-E1806.
• Idkowiak J, Lavery GG, Dhir V, Barrett TG, Stewart PM, Krone N & Arlt W (2011) Premature adrenarche: novel lessons from early onset androgen excess. European Journal of Endocrinology, 165(2), 189-207.
• Ahmed SF, Achermann JC, Arlt W, Balen AH, Conway G, Edwards ZL, Elford S, Hughes IA, Izatt L, Krone N , Miles HL et al (2011) UK guidance on the initial evaluation of an infant or an adolescent with a suspected disorder of sex development. Clinical Endocrinology, 75(1), 12-26.
• Idkowiak J, O'Riordan S, Reisch N, Malunowicz EM, Collins F, Kerstens MN, Köhler B, Graul-Neumann LM, Szarras-Czapnik M, Dattani M , Silink M et al (2011) Pubertal Presentation in Seven Patients with Congenital Adrenal Hyperplasia due to P450 Oxidoreductase Deficiency. The Journal of Clinical Endocrinology & Metabolism, 96(3), E453-E462.
• Idkowiak J, O'Riordan S, Reisch N, Malunowicz EM, Collins F, Kerstens MN, Köhler B, Graul-Neumann LM, Szarras-Czapnik M, Dattani M , Silink M et al (2011) Pubertal Presentation in Seven Patients with Congenital Adrenal Hyperplasia due to P450 Oxidoreductase Deficiency. Endocrinology, 152(2), 741-742.
• Idkowiak J, O'Riordan S, Reisch N, Malunowicz EM, Collins F, Kerstens MN, Köhler B, Graul-Neumann LM, Szarras-Czapnik M, Dattani M , Silink M et al (2011) Pubertal Presentation in Seven Patients with Congenital Adrenal Hyperplasia due to P450 Oxidoreductase Deficiency. Endocrine Reviews, 32(1), 155-155.
• Reisch N, Arlt W & Krone N (2011) Health Problems in Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency. Hormone Research in Paediatrics, 76(2), 73-85.
• Arlt W, Willis DS, Wild SH, Krone N, Doherty EJ, Hahner S, Han TS, Carroll PV, Conway GS, Rees DA , Stimson RH et al (2010) Health Status of Adults with Congenital Adrenal Hyperplasia: A Cohort Study of 203 Patients. The Journal of Clinical Endocrinology & Metabolism, 95(11), 5110-5121.
• Krone N, Hughes BA, Lavery GG, Stewart PM, Arlt W & Shackleton CHL (2010) Gas chromatography/mass spectrometry (GC/MS) remains a pre-eminent discovery tool in clinical steroid investigations even in the era of fast liquid chromatography tandem mass spectrometry (LC/MS/MS). The Journal of Steroid Biochemistry and Molecular Biology, 121(3-5), 496-504.
• Idkowiak J, Malunowicz EM, Dhir V, Reisch N, Szarras-Czapnik M, Holmes DM, Shackleton CHL, Davies JD, Hughes IA, Krone N & Arlt W (2010) Concomitant Mutations in the P450 Oxidoreductase and Androgen Receptor Genes Presenting with 46,XY Disordered Sex Development and Androgenization at Adrenarche. The Journal of Clinical Endocrinology & Metabolism, 95(7), 3418-3427.
• Welzel M, Schwarz H-P, Hedderich J, Dörr HG, Binder G, Brämswig JH, Krude H, Richter-Unruh A, Niedziela M, Gromoll J , Krone N et al (2010) No Correlation between Androgen Receptor CAG and GGN Repeat Length and the Degree of Genital Virilization in Females with 21-Hydroxylase Deficiency. The Journal of Clinical Endocrinology & Metabolism, 95(5), 2443-2450.
• Parajes S, Loidi L, Reisch N, Dhir V, Rose IT, Hampel R, Quinkler M, Conway GS, Castro-Feijóo L, Araujo-Vilar D , Pombo M et al (2010) Functional Consequences of Seven Novel Mutations in the CYP11B1 Gene: Four Mutations Associated with Nonclassic and Three Mutations Causing Classic 11β-Hydroxylase Deficiency. Endocrinology, 151(2), 839-839.
• Parajes S, Loidi L, Reisch N, Dhir V, Rose IT, Hampel R, Quinkler M, Conway GS, Castro-Feijóo L, Araujo-Vilar D , Pombo M et al (2010) Functional Consequences of Seven Novel Mutations in theCYP11B1Gene: Four Mutations Associated with Nonclassic and Three Mutations Causing Classic 11β-Hydroxylase Deficiency. The Journal of Clinical Endocrinology & Metabolism, 95(2), 779-788.
• Krone N, Högler W & Barrett TG (2009) Thoughts on paediatric diabetes care in the UK. The British Journal of Diabetes & Vascular Disease, 9(6), 259-267.
• Metherell LA, Naville D, Halaby G, Begeot M, Huebner A, Nürnberg G, Nürnberg P, Green J, Tomlinson JW, Krone NP , Lin L et al (2009) Nonclassic Lipoid Congenital Adrenal Hyperplasia Masquerading as Familial Glucocorticoid Deficiency. The Journal of Clinical Endocrinology & Metabolism, 94(10), 3865-3871.
• Dhir V, Reisch N, Bleicken CM, Lebl J, Kamrath C, Schwarz H-P, Grötzinger J, Sippell WG, Riepe FG, Arlt W & Krone N (2009) Steroid 17α-Hydroxylase Deficiency: Functional Characterization of Four Mutations (A174E, V178D, R440C, L465P) in theCYP17A1Gene. The Journal of Clinical Endocrinology & Metabolism, 94(8), 3058-3064.
• Krone N & Stewart PM (2009) An overlooked cause of glucocorticoid deficiency?. Nature Reviews Endocrinology, 5(7), 362-363.
• Barrett TG & Krone NP (2009) How to improve blood-glucose control in type-1 diabetes. Paediatrics and Child Health, 19(7), 309-315.
• Noordam C, Dhir V, McNelis JC, Schlereth F, Hanley NA, Krone N, Smeitink JA, Smeets R, Sweep FCGJ, Grinten HLC-VD & Arlt W (2009) InactivatingPAPSS2Mutations in a Patient with Premature Pubarche. New England Journal of Medicine, 360(22), 2310-2318.
• Krone N & Arlt W (2009) Genetics of congenital adrenal hyperplasia. Best Practice & Research Clinical Endocrinology & Metabolism, 23(2), 181-192.
• Bleicken C, Loidi L, Dhir V, Parajes S, Quinteiro C, Dominguez F, Grötzinger J, Sippell WG, Riepe FG, Arlt W & Krone N (2009) Functional characterization of threeCYP21A2sequence variants (p.A265V, p.W302S, p.D322G) employing a yeast co-expression system. Human Mutation, 30(2), E443-E450.
• Riepe FG, Van Bemmelen MXP, Cachat F, Plendl H, Gautschi I, Krone N, Holterhus P-M, Theintz G & Schild L (2009) Revealing a subclinical salt-losing phenotype in heterozygous carriers of the novel S562P mutation in the α subunit of the epithelial sodium channel. Clinical Endocrinology, 70(2), 252-258.
• Krone N, Grötzinger J, Holterhus P-M, Sippell WG, Schwarz H-P & Riepe FG (2009) Congenital Adrenal Hyperplasia due to 11-Hydroxylase Deficiency – Insights from Two Novel CYP11B1 Mutations (p.M92X, p.R453Q). Hormone Research, 72(5), 281-286.
• Holzinger A, Riepe F, Krone N, Grasser M, Münch H-G & Schwarz H-P (2008) Extreme Hyponatremia in an Infant with Congenital Adrenal Hypoplasia due to a Novel NR0B1 (DAX-1) Mutation. Klinische Pädiatrie, 220(05), 287-290.
• Riepe FG, Hiort O, Grötzinger J, Sippell WG, Krone N & Holterhus P-M (2008) Functional and Structural Consequences of a Novel Point Mutation in theCYP21A2Gene Causing Congenital Adrenal Hyperplasia: Potential Relevance of Helix C for P450 Oxidoreductase-21-Hydroxylase Interaction. The Journal of Clinical Endocrinology & Metabolism, 93(7), 2891-2895.
• Fegan PG, Sandeman DD, Krone N, Bosman D, Wood PJ, Stewart PM & Hanley NA (2007) Cushing's syndrome in women with polycystic ovaries and hyperandrogenism. Nature Clinical Practice Endocrinology & Metabolism, 3(11), 778-783.
• Krone N, Hanley NA & Arlt W (2007) Age-specific changes in sex steroid biosynthesis and sex development. Best Practice & Research Clinical Endocrinology & Metabolism, 21(3), 393-401.
• Dhir V, Ivison HE, Krone N, Shackleton CHL, Doherty AJ, Stewart PM & Arlt W (2007) Differential Inhibition of CYP17A1 and CYP21A2 Activities by the P450 Oxidoreductase Mutant A287P. Molecular Endocrinology, 21(8), 1958-1968.
• Krone N, Dhir V, Ivison HE & Arlt W (2007) Congenital adrenal hyperplasia and P450 oxidoreductase deficiency. Clinical Endocrinology, 66(2).
• Arlt W & Krone N (2007) Adult Consequences of Congenital Adrenal Hyperplasia. Hormone Research in Paediatrics, 68(5), 158-164.
• Grischuk Y, Rubtsov P, Riepe FG, Grötzinger J, Beljelarskaia S, Prassolov V, Kalintchenko N, Semitcheva T, Peterkova V, Tiulpakov A , Sippell WG et al (2006) Four Novel Missense Mutations in the CYP21A2 Gene Detected in Russian Patients Suffering from the Classical Form of Congenital Adrenal Hyperplasia: Identification, Functional Characterization, and Structural Analysis. The Journal of Clinical Endocrinology & Metabolism, 91(12), 4976-4980.
• Riepe FG, Finkeldei J, de Sanctis L, Einaudi S, Testa A, Karges B, Peter M, Viemann M, Grötzinger J, Sippell WG , Fejes-Toth G et al (2006) Elucidating the Underlying Molecular Pathogenesis ofNR3C2Mutants Causing Autosomal Dominant Pseudohypoaldosteronism Type 1. The Journal of Clinical Endocrinology & Metabolism, 91(11), 4552-4561.
• Krone N, Grischuk Y, Müller M, Volk RE, Grötzinger J, Holterhus P-M, Sippell WG & Riepe FG (2006) Analyzing the Functional and Structural Consequences of Two Point Mutations (P94L and A368D) in the CYP11B1 Gene Causing Congenital Adrenal Hyperplasia Resulting from 11-Hydroxylase Deficiency. The Journal of Clinical Endocrinology & Metabolism, 91(7), 2682-2688.
• Krone N, Groetzinger J, Holterhus PM, Sippell WG, Schwarz HP & Riepe FG (2006) Structure-function relationships in congenital adrenal hyperplasia due to 11-hydroxylase deficiency - insights from two novel mutations (M92X, R453Q) in the CYP11B1 gene. HORMONE RESEARCH, 65, 17-17.
• Riege FG, deSanctis L, Einaudi S, Testa A, Karges B, Sippell WG, Toth GF & Krone N (2006) Naturally occurring mineralocorticoid receptor mutations causing autosomal dominant pseudohypoaldosteronism type 1 (PHA1) - different pathogenetic molecular mechanisms resulting in diverse clinical phenotype. HORMONE RESEARCH, 65, 17-17.
• Welzel M, Krone N, Schleicher GS, Sippell WG, Holterhus PM & Riepe FG (2006) Functional characterization of a novel missense mutation (P341L) in the HSD3B2 gene causing classic 3beta-hydroxysteroid dehydrogenase deficiency (3 beta-HSD) congenital adrenal hyperplasia (CAH). HORMONE RESEARCH, 65, 116-116.
• Krone N, Riepe FG, Grötzinger J, Partsch C-J, Brämswig J & Sippell WG (2005) The residue E351 is essential for the activity of human 21-hydroxylase: evidence from a naturally occurring novel point mutation compared with artificial mutants generated by single amino acid substitutions. Journal of Molecular Medicine, 83(7), 561-568.
• Riepe FG, Krone N & Sippell WG (2005) Disproportionate stature but normal height in hypochondroplasia. European Journal of Pediatrics, 164(6), 397-399.
• Riepe FG, Tatzel S, Sippell WG, Pleiss J & Krone N (2005) Congenital Adrenal Hyperplasia: The Molecular Basis of 21-Hydroxylase Deficiency in H-2aw18 Mice. Endocrinology, 146(6), 2563-2574.
• Krone N, Riepe FG, Götze D, Korsch E, Rister M, Commentz J, Partsch C-J, Grötzinger J, Peter M & Sippell WG (2005) Congenital Adrenal Hyperplasia Due to 11-Hydroxylase Deficiency: Functional Characterization of Two Novel Point Mutations and a Three-Base Pair Deletion in theCYP11B1Gene. The Journal of Clinical Endocrinology & Metabolism, 90(6), 3724-3730.
• Krone N, Riepe FG, Dörr H-G, Morlot M, Rudorff K-H, Drop SLS, Weigel J, Pura M, Kreze A, Boronat M , de Luca F et al (2005) Thirteen novel mutations in theNR0B1(DAX1) gene as cause of adrenal hypoplasia congenita. Human Mutation, 25(5), 502-502.
• Maier EM, Liebl B, Röschinger W, Nennstiel-Ratzel U, Fingerhut R, Olgemöller B, Busch U, Krone N, Kries RV & Roscher AA (2005) Population spectrum ofACADMgenotypes correlated to biochemical phenotypes in newborn screening for medium-chain acyl-CoA dehydrogenase deficiency. Human Mutation, 25(5), 443-452.
• Riepe FG, Ahrens W, Krone N, Fölster-Holst R, Brasch J, Sippell WG, Hiort O & Partsch C-J (2005) Early manifestation of calcinosis cutis in pseudohypoparathyroidism type Ia associated with a novel mutation in the GNAS gene. European Journal of Endocrinology, 152(4), 515-519.
• Krone N, Riepe FG, Grötzinger J, Partsch C-J & Sippell WG (2005) Functional Characterization of Two Novel Point Mutations in theCYP21Gene Causing Simple Virilizing Forms of Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency. The Journal of Clinical Endocrinology & Metabolism, 90(1), 445-454.
• Riepe FG, Krone N, Morlot M, Peter M, Sippell WG & Partsch C-J (2004) Autosomal-Dominant Pseudohypoaldosteronism Type 1 in a Turkish Family Is Associated with a Novel Nonsense Mutation in the Human Mineralocorticoid Receptor Gene. The Journal of Clinical Endocrinology & Metabolism, 89(5), 2150-2152.
• Riepe FG, Baus I, Wiest S, Krone N, Sippell WG & Partsch C-J (2004) Treatment of Pubertal Gynecomastia with the Specific Aromatase Inhibitor Anastrozole. Hormone Research in Paediatrics, 62(3), 113-118.
• Partsch C-J, Krone N, Riepe FG, Gromoll J & Sippell WG (2004) Long-Term Follow-Up of Spontaneous Development in a Boy with Familial Male Precocious Puberty. Hormone Research in Paediatrics, 62(4), 177-181.
• Riepe FG, Krone N, Morlot M, Ludwig M, Sippell WG & Partsch C-J (2003) Identification of a Novel Mutation in the Human Mineralocorticoid Receptor Gene in a German Family with Autosomal-Dominant Pseudohypoaldosteronism Type 1: Further Evidence for Marked Interindividual Clinical Heterogeneity. The Journal of Clinical Endocrinology & Metabolism, 88(4), 1683-1686.
• Riepe FG, Krone N, Peter M, Sippell WG & Partsch C-J (2003) Chromatographic system for the simultaneous measurement of plasma 18-hydroxy-11-deoxycorticosterone and 18-hydroxycorticosterone by radioimmunoassay: reference data for neonates and infants and its application in aldosterone-synthase deficiency. Journal of Chromatography B, 785(2), 293-301.
• Krone N, Braun A, Weinert S, Peter M, Roscher AA, Partsch C-J & Sippell WG (2002) Multiplex Minisequencing of the 21-Hydroxylase Gene as a Rapid Strategy to Confirm Congenital Adrenal Hyperplasia. Clinical Chemistry, 48(6), 818-825.
• Riepe FG, Krone N, Viemann M, Partsch C-J & Sippell WG (2002) Management of Congenital Adrenal Hyperplasia: Results of the ESPE Questionnaire. Hormone Research in Paediatrics, 58(4), 196-205.
• Krone N, Wachter I, Stefanidou M, Roscher AA & Schwarz HP (2001) Mothers with congenital adrenal hyperplasia and their children: outcome of pregnancy, birth and childhood. Clinical Endocrinology, 55(4), 523-529.
• Lajić S, Robins T, Krone N, Schwarz HP & Wedell A (2001) CYP21 mutations in simple virilizing congenital adrenal hyperplasia. Journal of Molecular Medicine, 79(10), 581-586.
• Krone N, Braun A, Roscher AA, Knorr D & Schwarz HP (2000) Predicting phenotype in steroid 21-hydroxylase deficiency? Comprehensive genotyping in 155 unrelated, well defined patients from southern Germany. Journal of Clinical Endocrinology and Metabolism, 85(3), 1059-1065.
• Krone N, Braun A, Roscher AA & Schwarz HP (1999) A novel frameshift mutation (141delT) in exon 1 of the 21-hydroxylase gene(CYP21) in a patient with the salt wasting form of congenital adrenal hyperplasia. Human Mutation, 14(1), 90-91.
• Krone N, Roscher AA, Schwarz HP & Braun A (1998) Comprehensive analytical strategy for mutation screening in 21-hydroxylase deficiency. Clinical Chemistry, 44(10), 2075-2082.
• Krone N (1998) The Constitutional Court of the Russian Federation - A judicial institution caught between constitutional duty and political reality. OSTEUROPA, 48(3), 253-267.
• A BI, Lawrence NR, Balagamage C, Bryce J, Ali SR, Alimussina M, Chen M, Arya VB, Atapattu N, Bachega T , Barat P et al () Glucocorticoid replacement therapy in congenital adrenal hyperplasia and its associations with growth outcomes - real world data analysis from an international cohort of 1500 patients. Endocrine Abstracts.
• A BI, Lawrence NR, Balagamage C, Bryce J, Ali SR, Alimussina M, Chen M, Albanese A, Amin N, Davies JH , Gazdagh G et al () Analysis of real-world data on the care provision of children with congenital adrenal hyperplasia (CAH) in the united kingdom. Endocrine Abstracts.
• A BI, Lawrence NR, Alvi S, Cheetham TD, Crowne E, Das U, Dattani MT, Davies JH, Gevers E, Keevil B , Krone RE et al () Adipokine analysis in relation to the glucocorticoid dose and androgen concentrations in the paediatric CAH-UK cohort. Endocrine Abstracts.
• Tseretopoulou X, Ali SR, Bryce J, Amin N, Atapattu N, Bachega TASS, Baronio F, Ortolano R, Birkebaek NH, Bonfig W , Cools M et al () Temporal Trends In Acute Adrenal Insufficiency Events In Children With Congenital Adrenal Hyperplasia During 2019-2022. Journal of the Endocrine Society.
• Doyle LM, Ahmed SF, Davis J, Elford S, Elhassan YS, James L, Lawrence N, Llahana S, Okoro G, Rees DA , Tomlinson JW et al () Service evaluation suggests variation in clinical care provision in adults with congenital adrenal hyperplasia in the UK and Ireland. Clinical Endocrinology.
• Lawrence NR, Bacila IA, Collins G, Dawson J, Lang Z-Q, Ji X, Ahmed SF, Alvi S, Bath LE, Blair J , Cheetham T et al () National service evaluation of the quality of care for children and young people with congenital adrenal hyperplasia in the United Kingdom: survey responses from patients and clinicians. Hormone Research in Paediatrics.
• Tseretopoulou X, Ali SR, Bryce J, Amin N, Atapattu N, Bachega T, Baronio F, Birkebaek NH, Bonfig W, Claahsen-Van DGHL , Cools M et al () An international study of the association between local health care resources and acute adrenal insufficiency events in children with congenital adrenal hyperplasia. Endocrine Abstracts.
• BN LD, Bryce J, R AS, Tseretopoulou X, H BN, E HS, Campos-Martorell A, Clemente M, Neumann U, E FC , Metzger S et al () Association of newborn screening of congenital adrenal hyperplasia with outcomes in the first 90 days of life: a multi-centre I-CAH registry analysis of contemporary practice. Endocrine Abstracts.
• Madden DL, Faisal AS, Elford S, Elhassan Y, James L, Lawrence N, Llahana S, Rees A, Tomlinson J, O'Reilly M & Krone N () Service evaluation suggests variation in clinical care provision in adults with congenital adrenal hyperplasia in the UK and Ireland. Endocrine Abstracts.
• Krone N () CaHASE2: Current clinical practice and future research. Endocrine Abstracts.
• Pofi R, Ji X, Krone NP & Tomlinson JW () Long‐term health consequences of congenital adrenal hyperplasia. Clinical Endocrinology.
• Balagamage C, Lawrence NR, Krone R, Bacila IA & Krone NP () Blood Pressure in Children with Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency. Hormone Research in Paediatrics, 1-11.
• Eachus H, Oberski L, Paveley J, Bacila I, Ashton J-P, Esposito U, Seifuddin F, Pirooznia M, Elhaik E, Placzek M , Krone N et al () Glucocorticoid Receptor regulates protein chaperone, circadian clock and affective disorder genes in the zebrafish brain. Disease Models & Mechanisms.
• Lawrence NR, Bacila I, Dawson J, Mahdi S, Alvi S, Cheetham TD, Crowne E, Das U, Dattani MT, Davies JH , Gevers E et al () Quality of Life in Children and Young People With Congenital Adrenal Hyperplasia—UK Nationwide Multicenter Assessment. The Journal of Clinical Endocrinology & Metabolism.
• Mushtaq T, Ali SR, Boulos N, Boyle R, Cheetham T, Davies JH, Elder CJ, Gan H-W, Hindmarsh PC, Katugampola H , Krone N et al () Emergency and perioperative management of adrenal insufficiency in children and young people: British Society for Paediatric Endocrinology and Diabetes consensus guidance. Archives of Disease in Childhood.
• Mushtaq T, Ali S, Boulos N, Boyle R, Cheetham T, Davies J, Elder C, Gan H-W, Hindmarsh P, Katugampola H , Kerr S et al () Recommendations for hydrocortisone doses for emergency management and peri-operative care for childhood adrenal insufficiency. BSPED consensus guidelines. Endocrine Abstracts.
• Lawrence N, Bacila I, Dawson J, Bryce J, Ali SR, van den Akker ELT, Bachega TASS, Baronio F, Birkebæk NH, Bonfig W , Claahsen van der Grinten H et al () Analysis of therapy monitoring in the International Congenital Adrenal Hyperplasia Registry. Clinical Endocrinology.
• Ali S, Bryce J, Krone N, Claahsen-van DGH & Faisal AS () Current management of acute adrenal insufficiency related adverse events in children- results of an international survey of specialist centres. Endocrine Abstracts.
• Hebenstreit D, Ahmed FS, Krone N, Krall C, Bryce J, Alvi S, Ortolano R, Lima M, Birkebaek N, Bonfig W , Claahsen van der Grinten H et al () Surgical Practice in Girls with Congenital Adrenal Hyperplasia: An International Registry Study. Sexual Development, 1-7.
• Tonnus W, Belavgeni A, Beuschlein F, Eisenhofer G, Fassnacht M, Kroiss M, Krone NP, Reincke M, Bornstein SR & Linkermann A () The role of regulated necrosis in endocrine diseases. Nature Reviews Endocrinology.
• Ali SR, Bryce J, Haghpanahan H, Lewsey JD, Tan LE, Atapattu N, Birkebaek NH, Blankenstein O, Neumann U, Balsamo A , Ortolano R et al () Real-World Estimates of Adrenal Insufficiency–Related Adverse Events in Children With Congenital Adrenal Hyperplasia. The Journal of Clinical Endocrinology & Metabolism.
• Nikolaou N, Nasiri M, Parajes S, Krone N, Mastorakos G, Valsamakis G, Hughes B, Taylor A, Bujalska I, Gathercole L & Tomlinson J () Regulation of lipogenesis in human hepatocytes by androgens, glucocorticoids, and 5[alpha]-reductase. Endocrine Abstracts.
• Jones C, Mallappa A, Reisch N, Hughes B, O'Neil D, Krone N, Whitaker M, Eckland D, Merke D, Ross R & Arlt W () Alternative pathway synthesis dominates androgen production in patients with congenital adrenal hyperplasia and is decreased by Chronocort®more than by conventional glucocorticoid therapy. Endocrine Abstracts.
• Partsch C-J, Riepe F, Krone N, Sippell W & Pohlenz J () Initially Elevated TSH and Congenital Central Hypothyroidism Due to a Homozygous Mutation of the TSH Beta Subunit Gene: Case Report and Review of the Literature. Experimental and Clinical Endocrinology & Diabetes, 114(05), 227-234.
• Riepe F, Krone N, Krüger S, Sweep F, Lenders J, Dötsch J, Mönig H, Sippell W & Partsch C-J () Absence of Exercise-Induced Leptin Suppression Associated with Insufficient Epinephrine Reserve in Patients with Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency. Experimental and Clinical Endocrinology & Diabetes, 114(03), 105-110.
• Krone N, Riepe F, Partsch C-J, Vorhoff W, Brämswig J & Sippell W () Three Novel Point Mutations of the CYP21 Gene Detected in Classical Forms of Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency. Experimental and Clinical Endocrinology & Diabetes, 114(03), 111-117.
• Riepe F, Krone N, Cachat F, Sippell W, Theintz G & Schild L () The novel mutation S562P in the pore region of the epithelial sodium channel causes pseudohypoaldosteronism type 1 by modifying molecular sieving. Experimental and Clinical Endocrinology & Diabetes, 114(S 1).
• Kruse B, Riepe F, Krone N, Bosinski H, Kloehn S, Partsch C, Sippell W & Mönig H () Congenital Adrenal Hyperplasia - How to Improve the Transition from Adolescence to Adult Life. Experimental and Clinical Endocrinology & Diabetes, 112(07), 343-355.
• Marchi D, Santhakumar K, Markham E, Li N, Storbeck K-H, Krone N, Cunliffe VT & van Eeden FJM () Bidirectional crosstalk between hypoxia-inducible factor and glucocorticoid signalling in zebrafish larvae. PLOS Genetics, 16(5). View this article in WRRO

Chapters

• Katugampola H & Krone N (2024) Disorders of the Adrenal Gland in Children and Adolescents, Endocrinology (pp. 115-184). Springer International Publishing
• Katugampola H & Krone N (2023) Disorders of the Adrenal Gland in Children and Adolescents, Endocrinology (pp. 1-70). Springer International Publishing
• Krone NP (2021) Genetics of Congenital Adrenal Hyperplasia, Oxford Textbook of Endocrinology and Diabetes 3e (pp. 931-941). Oxford University Press
• Krone NP & Hughes IA (2020) Congenital adrenal hyperplasia, Oxford Textbook of Medicine (pp. 2360-2373). Oxford University Press
• Hiort O & Krone N (2020) Physiologie der Hormonsynthese und -wirkung bei Kindern und Jugendlichen, Pädiatrische Endokrinologie und Diabetologie (pp. 3-9). Springer Berlin Heidelberg
• Hiort O & Krone N (2018) Physiologie der Hormonsynthese und -wirkung bei Kindern und Jugendlichen, Pädiatrische Endokrinologie und Diabetologie (pp. 1-7). Springer Berlin Heidelberg
• Kamrath C, Wudy SA & Krone N (2014) Steroid Biochemistry, Understanding Differences and Disorders of Sex Development (DSD) (pp. 41-52). S. KARGER AG
• Krone N (2011) Congenital adrenal hyperplasia, Oxford Textbook of Endocrinology and Diabetes (pp. 865-878). Oxford University Press
• Stewart PM & Krone NP (2011) The adrenal cortex In Kronenberg HM, Larsen PR, Melmed S, Polonsky KS & Williams RH (Ed.), Williams Textbook of Endocrinology (pp. 479-544). Philadelphia: Elsevier Health Sciences.
• Stewart PM & Krone NP (2011) The Adrenal Cortex, Williams Textbook of Endocrinology (pp. 479-544). Elsevier
• Parajes S & Krone N () Molecular Genetics of 21-Hydroxylase Deficiency John Wiley & Sons, Ltd
• Parajes S & Krone N () Molecular Genetics of Congenital Adrenal Hyperplasia John Wiley & Sons, Ltd

Conference proceedings papers

• Roxas A, Gihawi A, Makarchuk M, Bryce J, Chen M, Ahmed SF, Ali SR, Drake A, Groves L, Idkowiak J , Krone R et al (2024) Trends in glucocorticoid prescribing practice in CAH over the last 6 years (2017-2023). SEXUAL DEVELOPMENT, Vol. 17 (pp 42-45)
• McElreavey K, Zidoune H, Wankanit S, Mazen I, Globa E, Martinerie L, Leger J, Rjiba K, Mougou-Zerelli S, Rouba H , Latrech H et al (2024) Fifteen years of exome sequencing involving >800 cases of DSD. What have we learned?. SEXUAL DEVELOPMENT, Vol. 17 (pp 73-75)
• Varughese R, Bonomi M, Butler G, Candler T, Cole T, Dattani M, Heger S, Jayasena C, Krone N, Nordenstrom A , Rohayem J et al (2024) Development of the I-HH registry to develop best practice management for hypogonadotropic hypogonadism. SEXUAL DEVELOPMENT, Vol. 17 (pp 95-96)
• Krone N (2024) Evidence Driven Care in CAH. SEXUAL DEVELOPMENT, Vol. 17 (pp 12-12)
• Tseretopoulou X, Ali SR, Bryce J, Amin N, Atapattu N, Bachega T, Baronio F, Birkebaek NH, Bonfig W, Davies JH , Thomas T et al (2023) Acute Adrenal Insufficiency Related Adverse Events In Children With Congenital Adrenal Hyperplasia (CAH): Changes During The Period 2019-2022 In I-CAH. HORMONE RESEARCH IN PAEDIATRICS, Vol. 96 (pp 136-137)
• Lim DBN, Bryce J, Ali SR, Tseretopoulou X, Birkebaek NH, Hannema SE, Campos-Martorell A, Clemente M, Neumann U, Fluck CE , Metzger S et al (2023) Management of congenital adrenal hyperplasia in the first 90 days of life: a multi-centre I-CAH analysis of contemporary practice. HORMONE RESEARCH IN PAEDIATRICS, Vol. 96 (pp 29-30)
• Bacila I, Lawrence NR, Ji X, Ahmed SF, Alvi S, Bath L, Blair J, Cheetham T, Crowne L, Davies JH , Dattani M et al (2023) National service evaluation project analysing the quality of care for children and young people with congenital adrenal hyperplasia in the United Kingdom: Data from patients and clinicians. HORMONE RESEARCH IN PAEDIATRICS, Vol. 96 (pp 418-419)
• Bacila I, Oberski L, Cunliffe V & Krone N (2023) Metabolic effects of cortisol insufficiency are sex-depended in a zebrafish model of 21-hydroxylase deficiency. HORMONE RESEARCH IN PAEDIATRICS, Vol. 96 (pp 135-135)
• Oberski L, Bacila I, Cunliffe V & Krone N (2023) The pathophysiologic response of central nervous system due to differently impaired steroidogenesis. HORMONE RESEARCH IN PAEDIATRICS, Vol. 96 (pp 27-28)
• Balagamage C, Cheethum T, Idkowiak J, Krone N & Krone R (2023) Use of Aromatase inhibitors to improve height outcomes in children with Congenital Adrenal Hyperplasia due to 21 hydroxylase deficiency. HORMONE RESEARCH IN PAEDIATRICS, Vol. 96 (pp 142-143)
• Bacila I, Li N, Eachus H, Storbeck K-H, Cunliffe VT & Krone NP (2022) Towards understanding the metabolic phenotype of glucocorticoid deficiency in 21-hydroxylase deficiency. HORMONE RESEARCH IN PAEDIATRICS, Vol. 95(SUPPL 2) (pp 79-79)
• Lawrence NR, Bacila I, Dawson J, Ali SR, van den Akker ELT, Sartori Sanchez Bachega TA, Baronio F, Birkebaek NH, Bonfig W, van der Grinten C , Cools M et al (2022) Blood pressure (BP) status in Congenital Adrenal Hyperplasia (CAH) - longitudinal analysis of real world data from the I-CAH registry. HORMONE RESEARCH IN PAEDIATRICS, Vol. 95(SUPPL 2) (pp 112-113)
• Ali SR, Bryce J, Krone NP, Claahsen-van der Grinten HL & Ahmed SF (2021) Current Management Of Acute Adrenal Insufficiency Related Adverse Events In Children- Results Of An International Survey Of Specialist Centres. HORMONE RESEARCH IN PAEDIATRICS, Vol. 94(SUPPL 1) (pp 125-125)
• Buonocore F, Maharaj A, Qamar Y, Koehler K, Suntharalingham JP, Chan LF, Ferraz-de-Souza B, Hughes CR, Lin L, Prasad R , Allgrove J et al (2021) Genetic analysis of paediatric primary adrenal insufficiency of unknown aetiology over 25 years. HORMONE RESEARCH IN PAEDIATRICS, Vol. 94(SUPPL 1) (pp 187-188)
• Lawrence N, Bacila I, Dawson J, Bryce J, van den Akker EL, Sartori Sanchez Bachega TA, Baronio F, Birkebaek NH, Bonfig W, Claahsen H , Costa EC et al (2021) Variation of glucocorticoid dose and biomarkers in children with congenital adrenal hyperplasia longitudinal analysis of real world data from the I-CAH registry. HORMONE RESEARCH IN PAEDIATRICS, Vol. 94(SUPPL 1) (pp 26-26)
• Lawrence N, Bacila I, Dawson J, Bryce J, van den Akker E, Sartori Sanchez Bachega TA, Baronio F, Birkebaek NH, Bonfig W, Claahsen H , Costa EC et al (2021) International practice of therapy monitoring in congenital adrenal hyperplasia - Real World data from the I-CAH registry. HORMONE RESEARCH IN PAEDIATRICS, Vol. 94(SUPPL 1) (pp 67-68)
• Bacila I, Lawrence N, Alvi S, Cheetham T, Crowne E, Das U, Dattani M, Davies JH, Gevers E, Krone R , Kyriakou A et al (2021) Re-appraising the use of urinary steroid profiles for assessing therapy control in children with 21-hydroxylase deficiency - results from the CAH-UK cohort study. HORMONE RESEARCH IN PAEDIATRICS, Vol. 94(SUPPL 1) (pp 27-27)
• Farrar M, He W, Ali SR, Bryce J, Lawrence N, Baronio F, Claahsen-van der Grinten HL, Bonfig W, Krone N, Yonan C & Ahmed SF (2021) Growth-Related Characteristics of Patients < 18 Years of Age with Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency (21OHD): Real-World Evidence from the I-CAH Registry. HORMONE RESEARCH IN PAEDIATRICS, Vol. 94(SUPPL 1) (pp 65-65)
• Hebenstreit D, Ahmed F, Springer A, Krall C, Krone N, Birkebaek N, Milenkovic T, Koehler B, Flueck C, Krone R , Balsamo A et al (2019) Contemporary surgical approach in CAH 46XX-Results from the I-DSD/I-CAH Registries. HORMONE RESEARCH IN PAEDIATRICS, Vol. 91 (pp 96-97)
• Ali S, Daniel E, Bryce J, Ikiroma A, Lewsey J, Ross R, Krone R, Acerini C, Krone N, Das U , Tomlinson J et al (2019) Development Of An International Benchmark For Sick Day Episodes As A Core Clinical Outcome In People With Congenital Adrenal Hyperplasia. HORMONE RESEARCH IN PAEDIATRICS, Vol. 91 (pp 209-210)
• Bacila I-A, Blankenstein O, Neumann U, Claahsen-van der Grinten HL, Krone R, Acerini C, Bachega TSS, Miranda MC, Mendonca B, Birkebaek NH , Cools M et al (2019) Global Practice of Glucocorticoid and Mineralocorticoid Treatment in Children and Adults with Congenital Adrenal Hyperplasia - Insights from the I-CAH Registry. HORMONE RESEARCH IN PAEDIATRICS, Vol. 91 (pp 132-133)
• Oakes JA, Storbeck K-H, Cunliffe VT & Krone NP (2019) Investigating the roles of androgens in male reproductive development, maintenance and function by characterisation of androgen and cortisol deficient 11 beta-hydroxylase mutant zebrafish lines. HORMONE RESEARCH IN PAEDIATRICS, Vol. 91 (pp 50-50)
• Bacila I-A, Mahdi S, Acerini CL, Krone R, Patel L, Alvi S, Randell T, Gevers E, Dattani M, Cheetham T , Kyriako A et al (2019) Health status of children with Congenital Adrenal Hyperplasia due to 21-hydroxylase deficiency in the United Kingdom: results of a multi-centre cohort study. HORMONE RESEARCH IN PAEDIATRICS, Vol. 91 (pp 129-130)
• Bacila I-A, Adaway J, Hawley J, Mahdi S, Acerini CL, Krone R, Patel L, Alvi S, Randell T, Gevers E , Dattani M et al (2019) Development of novel non-invasive strategies for monitoring of treatment control in patients with congenital adrenal hyperplasia. HORMONE RESEARCH IN PAEDIATRICS, Vol. 91 (pp 107-107)
• Li N, Oakes JA, Storbeck K-H, Cunliffe VT & Krone NP (2019) The P450 side-chain cleavage isozyme cyp11a2 facilitates interrenal and gonadal steroid hormone biosynthesis in developing and adult zebrafish. HORMONE RESEARCH IN PAEDIATRICS, Vol. 91 (pp 66-67)
• Hughes LA, Bounford KM, Webb EA, Cole T, Krone NP, Fews G & Allen S (2018) Improved diagnosis and management of patients with Disorders of Sex Development (DSDs) Using Next Generation Sequencing. EUROPEAN JOURNAL OF HUMAN GENETICS, Vol. 26 (pp 202-203)
• Aji A, Colyer S, Burn S, Dimitri P, Wright N, Krone N & Elder C (2018) The relationship of baseline, incremental and peak cortisol following a Short Synacthen Test - single-centre analysis of three years' data. Hormone Research in Paediatrics, Vol. 90(Suppl 1) (pp 128-129), 27 September 2018 - 29 September 2018. View this article in WRRO
• Burn S, Colyer S, Dimitri P, Wright N, Krone N & Elder C (2018) Borderline peak plasma cortisol following Synacthen stimulation - single-centre analysis of three years' data. Endocrine Abstracts, Vol. 90(S1) (pp 146-146), 27 September 2018 - 29 September 2018. View this article in WRRO
• De Ridder J, Bashamboo A, De Baere E, Krone N, Mitchell R, Rajpert-De Meyts E, Tobias E, Looijenga L, Achermann J, Werner R , Ahmed F et al (2018) SDgeneMatch, A New Tool to Aid the Identification of the Genetic Causes of DSD. HORMONE RESEARCH IN PAEDIATRICS, Vol. 90 (pp 540-540)
• Mohamed Z, Allen S, Bounford KM, Idkowiak J, Godber C, Chandran H, McCarthy L, Cole T, Kirk J & Krone N (2018) Revisiting the Diagnosis: Next Generation Sequencing (NGS) Identifies Concurrence of PAIS in a Previously Reported Case of Klinefelter Syndrome (47,XXY) with Hypospadias. HORMONE RESEARCH IN PAEDIATRICS, Vol. 90 (pp 562-563)
• Li N, Weger M, Griffin A, Eachus H, Cunliffe VT & Krone N (2018) Glucocorticoid Deficiency Causes Differentially Dysregulated Oxidative Stress Depending on the Steroidogenic Defects. HORMONE RESEARCH IN PAEDIATRICS, Vol. 90 (pp 71-72)
• Oakes JA, Liz N, Wistow B, Storbeck K-H, Cunliffe VT & Krone N (2018) The Roles of Steroids in Gonadal Development and Maintenance - Insights from a Zebrafish Model of Androgen and Cortisol Deficiency. HORMONE RESEARCH IN PAEDIATRICS, Vol. 90 (pp 53-53)
• Daniel E, Sandrk M, Blankenstein O, Neumann U, Claahsen-Van der Grinten H, Van der Linde A, Darendeliler F, Pyrazoglu S, Mendonca BB, Bachega TSS , Miranda MC et al (2017) DEFINING THE DOSE, TYPE AND TIMING OF GLUCOCORTICOID AND MINERALOCORTICOID REPLACEMENT IN 256 CHILDREN AND ADULTS WITH CONGENITAL ADRENAL HYPERPLASIA (CAH) IN THE I-CAH REGISTRY. HORMONE RESEARCH IN PAEDIATRICS, Vol. 88 (pp 358-358) View this article in WRRO
• Lucas-Herald AK, Kyriakou A, Bryce J, Rodie M, Acerini C, Arlt W, Audi L, Balsamo A, Baronico F, Bertelloni S , Brooke A et al (2017) THE PREVALENCE OF ADULTS WITH DSD CONDITIONS AT RISK OF HYPOGONADISM IN THE INTERNATIONAL DISORDERS OF SEX DEVELOPMENT REGISTRY. HORMONE RESEARCH IN PAEDIATRICS, Vol. 88 (pp 557-558)
• Guven A, Guran T & Krone N (2017) 17-HYDROXYLASE DEFICIENCY: RARE CAUSE OF DELAYED PUBERTY. HORMONE RESEARCH IN PAEDIATRICS, Vol. 88 (pp 255-256)
• Van Der Linde A, Neumann U, Bryce J, Ahmed SF, Kourime M, Krone N, Ross RJ, Claahsen-Van Der Grinten H & Blankenstein O (2017) MANAGEMENT OF FLUDROCORTISONE AND SALT THERAPY IN 0-3 YEAR OLD CHILDREN WITH CONGENITAL ADRENAL HYPERPLASIA (CAH) - PRELIMINARY ANALYSIS. HORMONE RESEARCH IN PAEDIATRICS, Vol. 88 (pp 251-252)
• Nikolaos N, Nasiri M, Gathercole LL, Parajes S, Krone NP, Valsamakis G, Mastorakos G & Tomlinson JW (2014) Androgen Receptor Activation Stimulates Hepatic Lipid Accumulation in Human Hepatocytes. ENDOCRINE REVIEWS, Vol. 35(3)
• Krone N (2011) Phenotypic Variability and Uncommon Forms of Congenital Adrenal Hyperplasia. JOURNAL OF MEDICAL GENETICS, Vol. 48 (pp S29-S29)
• Idkowiak J, O'Riordan S, Malunowicz EM, Collins F, Kerstens M, Reisch N, Szarras-Czapnik M, Maiter D, Sillink M, Dattani M , Shackleton CHL et al (2010) Pubertal Presentation in Congenital Adrenal Hyperplasia Due to P450 Oxidoreductase Deficiency.. ENDOCRINE REVIEWS, Vol. 31(3)
• Reisch N, Dhir V, Berry AA, Krone N, Taylor AE, Nogueira EF, Malunowicz EM, Hindmarsh PC, Wudy SA, Taylor NF , Stewart PM et al (2010) Evidence for the Existence and Significance of an Alternative Pathway towards Androgen Synthesis in the Human Fetal Adrenal.. ENDOCRINE REVIEWS, Vol. 31(3)
• Taylor AE, Biehl M, Hahner S, Libe R, Hughes BA, Stiekema H, Schneider P, Smith DJ, Krone N, Porfiri E , Opocher G et al (2010) Urinary Steroid Profiling as a High-Throughput Screening Tool for the Detection of Malignancy in Patients with Adrenal Tumors.. ENDOCRINE REVIEWS, Vol. 31(3)
• Aji A, Colyer S, Burn S, Dimitri P, Wright N, Krone N & Elder C () The relationship of baseline, incremental and peak cortisol following a Short Synacthen Test - single-centre analysis of three years' data. Endocrine Abstracts
• Idkowiak J, Mohamed Z, Allen S, Chandran H, McCarthy L, Kirk J, Cole T & Krone N () Pitfalls in the diagnosis of an infant with 46,XX DSD with Congenital Adrenal Hyperplasia due to Cytochrome P450 Oxidoreductase deficiency - the value of simultaneous genetic analysis to the diagnosis in DSD. Endocrine Abstracts
• Mannion P, Elhassan Y, Smith K, Webster R, Saraff V, Barrett T, Shaw N, Krone N, Dias R, Kershaw M , Kirk J et al () Mass spectrometry-based assessment of childhood androgen excess in 487 consecutive patients. Endocrine Abstracts
• Webb EA, Saraff V, Hughes L, Allen S, Cole T, Dattani MT, Hughes IA, Kirk JMW, Fews G & Krone NP () The role of a next generation sequencing panel in the diagnostic pathway in disorders of sex development. Endocrine Abstracts

Preprints

• Marchi D, Santhakumar K, Markham E, Li N, Storbeck K-H, Krone N, Cunliffe VT & van Eeden FJM () Bidirectional crosstalk between Hypoxia-Inducible Factor and glucocorticoid signalling in zebrafish larvae, Cold Spring Harbor Laboratory.
• Eachus H, Subramanya D, Jackson HE, Wang G, Berntsen K, Ashton J-P, Esposito U, Seifuddin F, Pirooznia M, Elhaik E , Krone N et al () Regulation of neuron-specific gene transcription by stress hormone signalling requires synaptic activity in zebrafish, Cold Spring Harbor Laboratory.
• Reisch N, Taylor AE, Nogueira EF, Asby DJ, Dhir V, Berry A, Krone N, Auchus RJ, Shackleton CHL, Hanley NA & Arlt W () Alternative pathway androgen biosynthesis and human fetal female virilization, Cold Spring Harbor Laboratory.