Nils KroneDr Nils P Krone MD FRCPCH

Reader in Paediatric Endocrinology and Honorary Consultant Paediatric Endocrinologist

Academic Unit of Child Health
Department of Oncology & Metabolism
University of Sheffield
Sheffield Children's Hospital
Western Bank

Tel  (+44) 0114 271 7508
Fax (+44) 0114 275 5364



Nils Krone graduated from the Ludwig-Maximilian’s University, Munich, Germany, where he was also awarded his MD for studies into the genotype-phenotype correlation in congenital adrenal hyperplasia. He has trained in General Paediatrics and Paediatric Endocrinology at the University Children’s Hospital, Munich and University of Kiel Children’s Hospital, Germany (1999-2006).

He has been working at the University of Birmingham as Wellcome Trust Clinician Scientist (2006-2011) and Senior Clinical Lecturer (2011-2015). Nils was appointed at the University of Sheffield in 2015. He has worked since 2007 as Honorary Consultant Paediatric Endocrinologist at Birmingham Children’s Hospital, where he led the adrenal and disorders of sex development (DSD) clinical service. In addition, to his clinical commitments at Sheffield Children’s Hospital, he is part of the multidisciplinary DSD clinical team at Birmingham Children’s Hospital.

Research interests

His main clinical interests are inborn errors of steroidogenesis, congenital adrenal hyperplasia, disorders of sex development (DSD), and PCOS; his main research interests are on inborn errors of steroid hormone biosynthesis and steroid hormone metabolism in health and disease.

Current efforts of his work concentrate on the implementation of model systems to study genetic variants and the integration of diagnostic methods in adrenal disease and DSD. His group has implemented various in vitro assays to study enzymatic defects in steroidogenesis. The most recent work of his group explores the consequences of disrupted steroid hormone synthesis and action on whole organism employing zebrafish as a model organism in translational steroid hormone research (Endocrinology 2013; Endocrinology 2016). This research is based at the Bateson Centre.

The main focus of this clinical research program is on CAH. He leads on a multicentre, 17 tertiary paediatric endocrine centres in the UK, NIHR RD TRC funded project to establish the evidence basis on the current health status in children and young people with congenital adrenal hyperplasia in the UK. In addition, he works on a program to improve health care deliver for children and young people with adrenal conditions and DSD.

Professional activities


National committees (selected):

  • Chair of the Disorders of Sex Development Special Interest Groups of The British Society of Paediatric Endocrinology and Diabetes (BSPED DSD SIG) (since 2014, Founding Member of the BSPED DSD SIG 2011-2013)
  •  Member of the Society for Endocrinology Program Organising Committee (since 2016)
  •  Member, Clinical guideline development "Diagnosis of disorders of sexual development (DSD); Member of Joint Society for Endocrinology/ BSPED DSD taskforce (2009-2011); revision of guidance in 2015

International Activities (selected):

Current projects

1. Understanding the systemic consequences to disrupted steroidogenesis.
2. Defining the role of mitochondrial redox regulation of steroid hormone biosynthesis.
3. Health status of children and young persons with congenital adrenal hyperplasia (CAH-UK).

Key publications

Nils has published over 80 peer reviewed papers, which have been cited over 2,500 times (google scholar, h-index 28). In addition, he has published numerous textbook chapters on clinical topics with the main focus on congenital adrenal hyperplasia (CAH) and disorders of sex development (DSD).

1. Krone N, Braun A, Roscher AA, Knorr D, Schwarz HP. Predicting phenotype in steroid 21-hydroxylase deficiency? Comprehensive genotyping in 155 unrelated, well defined patients from southern Germany. J Clin Endocrinol Metab 85:1059-65 (2000)

2. Krone N, Braun A, Weinert S, Peter M, Roscher AA, Partsch CJ, Sippell WG. Multiplex minisequencing of the 21-hydroxylase gene as a rapid strategy to confirm congenital adrenal hyperplasia. Clin Chem 48:818-25 (2002)

3. Riepe FG, Tatzel S, Sippell WG, Pleiss J, Krone N. Congenital adrenal hyperplasia: the molecular basis of 21-hydroxylase deficiency in H-2(aw18) mice. Endocrinology 146:2563-74 (2005)

4. Krone N, Grischuk Y, Muller M, Volk RE, Grotzinger J, Holterhus PM, Sippell WG, Riepe FG. 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. J Clin Endocrinol Metab 91:2682-8 (2006)

5. Parajes S, Loidi L, Reisch N, Dhir V, Rose IT, Hampel R, Quinkler M, Conway GS, Castro-Feijóo L, Araujo-Vilar D, Pombo M, Dominguez F, Williams EL, Cole TR, Kirk JM, Kaminsky E, Rumsby G, Arlt W, Krone N. Functional Consequences of Seven Novel Mutations in the CYP11B1 Gene - Four Mutations Associated with Non-Classic and Three Mutations Causing Classic 11β-Hydroxylase Deficiency J Clin Endocrinol Metab 95:779-788 (2010)

6. Parajes S, Kamrath C, Rose IT, Mooij CM, Dhir V, Arlt W, Krone N. 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). J Clin Endocrinol Metab 96:E1798-1806 (2011)

7. Krone N, Rose IT, Willis DS, Hodson J, Wild SH, Doherty EJ, Hahner S, Parajes S, Stimson RH, Han TS, Carrol PV, Conway GS, Walker BR, MacDonald F, Ross RJ, Arlt W for the United Kingdom Congenital adrenal Hyperplasia Adult Study Executive (CaHASE). 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. J Clin Endocrinol Metab 98: E346-254 (2013)

8. Parajes S, Griffin A, Rose IT, Taylor AE, Miguel Estrada I, Arlt W, Muller F, Krone N. Redefining the Initiation and Maintenance of Zebrafish Interrenal Steroidogenesis by Characterizing the Key Enzyme Cyp11a2. Endocrinology 154:2702-11 (2013)

9. Reisch N, Högler W, Parajes Castro S, Taylor A, Rose IT, Dhir V, Arlt W, Krone N. A diagnosis not to be missed: Non-classic steroid 11β-hydroxylase deficiency presenting with premature adrenarche and hirsutism. J Clin Endocrinol Metab 98:E1620-1625 (2013)

10. Griffin A, Parajes S, Weger M, Zaucker A, Taylor AE, O'Neil DM, Müller F, Krone N. Ferredoxin 1b (Fdx1b) is the essential mitochondrial redox partner for cortisol biosynthesis in zebrafish. Endocrinology. 2015 Dec 9:en20151480. [Epub ahead of print]

For a full list of publications please visit myPublications