Dr Jan Idkowiak MD, PhD, MRCPCH

Dr Jan Idkowiak

Institute of Metabolism and Systems Research
Clinical Associate Professor in Paediatric Endocrinology and Diabetes
Honorary Consultant in Paediatric Endocrinology and Diabetes

Contact details

Address
College of Medical and Dental Sciences
Institute of Metabolism and Systems Research
University of Birmingham
Edgbaston
Birmingham
B15 2TT
UK

Jan is Clinical Associate Professor in Paediatric Endocrinology and Diabetes, based at the IMSR and at the Department of Endocrinology at the Birmingham Children’s Hospital.

Jan is Programme Director of the Welcome Trust/ NIHR Clinical Research Facility (Paediatrics) and he also leads the West Midlands Childhood Obesity (Complications of Excess Weight, CEW) Service at Birmingham Children’s Hospital.  

His main research focuses on androgen metabolism. His main interest is how children and adolescents with androgen excess conditions, such as premature adrenarche and Polycystic Ovary Syndrome (PCOS), develop metabolic complications. His other key interest are inborn errors of steroidogenesis, in particular conditions affecting androgen generation. He combines clinical phenotyping and genetic analysis with in vitro functional studies to enhance our understanding of the molecular basis of androgen biosynthesis.

Qualifications

  • 2019: Certificate of Completion of Training (CCT), General Medical Council, UK
  • 2015: PhD in Molecular Medicine, University of Birmingham
  • 2014: Member of the Royal College of Paediatrics and Childhood (MRCPCH)
  • 2007: MD in Medicine/ Developmental Biology, University of Halle-Wittenberg, Germany
  • 2005: Medical State Exam (equivalent to MBChB), University of Halle-Wittenberg, Germany

Biography

Jan qualified in Medicine from the University of Halle-Wittenberg, Germany, in 2005. He obtained an MD with distinction (‘summa cum laude’) on molecular studies discovering novel mechanisms of axial patterning and head formation in mammals in 2007 from the University of Halle-Wittenberg, Germany. From 2005-2009, Jan was trained in Paediatrics and Paediatric Endocrinology and Diabetes at the Children’s Hospital at the University of Dresden, Germany. In 2009 he obtained a Research Training Fellowship from the European Society for Paediatric Endocrinology (ESPE) to study adrenarche at the Centre for Endocrinology, Diabetes and Metabolism at the University of Birmingham under supervision for Prof Wiebke Arlt. In 2011, Jan was successful in obtaining an MRC-funded Research Training Fellowship to do his PhD in the same group in Birmingham. His PhD entitled ‘Molecular Regulation of Adrenal Androgen Biosynthesis’ was awarded in 2015. After completing his training in General Paediatrics, Jan joined the Institute of Metabolism and Systems Research in 2017 as a NIHR-funded Clinical Lecturer to expand his studies on androgen metabolism in children. He was successful in obtaining a prestigious Starter Grant for Clinical Lecturers from the Academy of Medical Sciences, UK, in 2018.

Jan was appointed as Clinical Associated Professor at the IMSR in 2022, when he also became Programme Director of the Birmingham NIHR/ Wellcome Trust Clinical Research Facility (Paediatrics) in 2022, a dedicated unit based at the Birmingham Children’s Hospital delivering early-phase/ experimental medicine studies in children and young people.

Teaching

  • MBChB – Endocrinology
  • Postgraduate Teaching in Paediatrics – Paediatric Endocrinology
  • OSCEs – Senior Examiner
  • Senior Academic Tutor, BCH Teaching Academy

Postgraduate supervision

Jan is interested in supervising medical students studying for intercalated degrees, as well as doctoral research students in the following areas:

  • Adrenal disorders in Paediatrics
  • Metabolic Dysfunction and Childhood Androgen Excess Conditions
  • Other aspects of Clinical Paediatric Endocrinology and Diabetes

If you are interested in studying any of these subject areas please contact Jan on the contact details above.

Research

During his PhD, Jan has examined various monogenic disorders associated with androgen excess and deficiency. Through a combination of in vivo and in vitro molecular studies, Jan has characterised enzymes and co-factors of the androgenic pathway, in particular the electron donor P450 oxidoreductase (POR), cytochrome B5 (CYB5A) and the central androgen producing enzyme P450 cytochrome (CYP) 17A1. In addition, Jan has explored the clinical and molecular role of sulfation and desulfation of the principal androgen precursor dehydroepiandrosterone (DHEA) by examining enzymes and co-factor PAPSS synthases and Steroid Sulfatase. As key methodologies, Jan employs mass-spectrometry steroid profiling as a central diagnostic tool to unravel disease signatures of androgen deficiency and excess conditions.

Currently, Jan is conducting clinical studies to look into the metabolic risk profile of children with common androgen excess conditions, such as premature adrenarche (PA) and adolescent polycystic ovary syndrome (PCOS). He is Chief investigator of the DUCHESS Study (Defining Disorders Underlying Childhood Androgen Excess), a deep phenotyping study in children with PA and PCOS. Jan employs multi-steroid hormone profiling and global untargeted metabolomics combined with a clinical deep phenotyping approach to discover to what extend idiopathic androgen excess conditions pre-dispose to metabolic risk.

Other activities

  • Since 2022: Member of the Working Group ‘Ens@t Paeds’, European Network for the Study of Adrenal Tumours
  • Since 2022: Member of the e-Learning Committee, European Society of Paedaitric Endocrinology (ESPE)
  • Since 2021: Member of the Working Group ‘Differences of Sexual Development’, European Society of Paediatric Endocrinology (ESPE)
  • Since 2016: Steering Group Member of the Centre for Endocrinology, Diabetes and Metabolism (CEDAM), Birmingham Health Partners
  • 2016-2019: Trainee Representative for Birmingham, Intercalating Academic Training Group (ICAT), Universities Birmingham, Warwick and Keele
  • Since 2016: Member of the Scientific Committee of the Birmingham Children’s Hospital Research Foundation

Publications

Recent publications

Article

Riedmeier, M, Antonini, S, Benoit, C, Deal, CL, Martin, F, Figueiredo, BC, Nazli Gonc, E, Härtel, C, Idkowiak, J, Kurlbaum, M, de Krijger, R, Ribeiro, RC, del Rivero, J, Schlegel, P-G, Thompson, LDR, Yalcin, B & Wiegering, V 2024, 'Isosexual precocious pseudopuberty during mitotane treatment in a child with adrenocortical carcinoma: A case report', Pediatric Hematology Oncology Journal. https://doi.org/10.1016/j.phoj.2024.03.005

Idkowiak, J, Smyth, A, Mundy, L, Wanaguru, A, Gleeson, H & Högler, W 2022, 'Breast satisfaction in adult women with Turner Syndrome: – an international survey employing the BREAST-Q questionnaire', Clinical Endocrinology, pp. 1-9. https://doi.org/10.1111/cen.14755

Pemberton, JS, Kershaw, M, Dias, R, Idkowiak, J, Mohamed, Z, Saraff, V, Barrett, TG, Krone, R & Uday, S 2021, 'DYNAMIC: dynamic glucose management strategies delivered through a structured education program improves time in range in a socioeconomically deprived cohort of children and young people with type 1 diabetes with a history of hypoglycemia', Pediatric Diabetes, vol. 22, no. 2, pp. 249-260. https://doi.org/10.1111/pedi.13155

Sun, M, Mueller, JW, Gilligan, LC, Taylor, AE, Shaheen, F, Noczyńska, A, T'Sjoen, G, Denvir, L, Shenoy, S, Fulton, P, Cheetham, TD, Gleeson, H, Rahman, M, Krone, NP, Taylor, NF, Shackleton, CHL, Arlt, W & Idkowiak, J 2021, 'The broad phenotypic spectrum of 17α-hydroxylase/17,20-lyase (CYP17A1) deficiency: a case series', European Journal of Endocrinology , vol. 185, no. 5, pp. 729-741. https://doi.org/10.1530/EJE-21-0152

Pemberton, J, Kershaw, M, Dias, R, Idkowiak, J, Mohamed, Z, Saraff, V, Barrett, T, Krone, R & Uday, S 2020, 'DYNAMIC: DYNAmic glucose Management strategies delivered through a structured education program improves time In range in a socioeconomically deprived cohort of Children and young people with type 1 diabetes with a history of hypoglycaemia: DynamicGM improves TIR in type 1 diabetes', Pediatric Diabetes.

Idkowiak, J, Elhassan, YS, Mannion, P, Smith, K, Webster, R, Saraff, V, Barrett, TG, Shaw, NJ, Krone, N, Dias, RP, Kershaw, M, Kirk, JM, Högler, W, Krone, RE, O'Reilly, MW & Arlt, W 2019, 'Causes, patterns and severity of androgen excess in 487 consecutively recruited pre- and post-pubertal children', European Journal of Endocrinology , vol. 180, no. 3, pp. 213-221. https://doi.org/10.1530/EJE-18-0854

Storbeck, K-H, Schiffer, L, Baranowski, E, Chortis, V, Prete, A, Barnard, L, Gilligan, L, Taylor, A, Idkowiak, J, Arlt, W & Shackleton, C 2019, 'Steroid metabolome analysis in disorders of adrenal steroid biosynthesis and metabolism', Endocrine Reviews, vol. 40, no. 6, pp. 1605-1625. https://doi.org/10.1210/er.2018-00262

Elhassan, Y, Idkowiak, J, Smith, K, Asia, M, Gleeson, H, Webster, R, Arlt, W & O'reilly, M 2018, 'Causes, patterns, and severity of androgen excess in 1205 consecutively recruited women', The Journal of clinical endocrinology and metabolism, vol. 103, no. 3, pp. 1214-1223. https://doi.org/10.1210/jc.2017-02426

Mueller, JW, Idkowiak, J, Gesteira, TF, Vallet, C, Hardman, R, van den Boom, J, Dhir, V, Knauer, SK, Rosta, E & Arlt, W 2018, 'Human DHEA sulfation requires direct interaction between PAPS synthase 2 and DHEA sulfotransferase SULT2A1', Journal of Biological Chemistry, vol. 293, no. 25, pp. 9724-9735. https://doi.org/10.1074/jbc.RA118.002248

Arlt, W & Idkowiak, J 2018, 'Monogenic disorders of adrenal steroidogenesis', Hormone Research in Paediatrics, vol. 89, pp. 292–310. https://doi.org/10.1159/000488034

Arlt, W, Torchen, L, Idkowiak, J, Fogel, N, O'Neil, D, Shackleton, C & Dunaif, A 2016, 'Evidence for Increased 5α-Reductase Activity During Early Childhood in Daughters of Women with Polycystic Ovary Syndrome', Journal of Clinical Endocrinology and Metabolism, vol. 101, no. 5, pp. 2069-2075. https://doi.org/10.1210/jc.2015-3926#sthash.9Wp6MrQ4.dpuf

Idkowiak, J, Taylor, AE, Subtil, S, O'neil, DM, Vijzelaar, R, Dias, RP, Amin, R, Barrett, TG, Shackleton, CHL, Kirk, JMW, Moss, C & Arlt, W 2016, 'Steroid sulfatase sulfatase deficiency and androgen activation before and after puberty', Journal of Clinical Endocrinology and Metabolism, vol. 101, no. 6, pp. 2545-53. https://doi.org/10.1210/jc.2015-4101

Oostdijk, W, Idkowiak, J, Mueller, JW, House, PJ, Taylor, AE, O'reilly, MW, Hughes, BA, De Vries, MC, Kant, SG, Santen, GWE, Verkerk, AJMH, Uitterlinden, AG, Wit, JM, Losekoot, M & Arlt, W 2015, 'PAPSS2 deficiency causes androgen excess via impaired DHEA sulfation—in vitro and in vivo studies in a family harboring two novel PAPSS2 mutations', Journal of Clinical Endocrinology and Metabolism, vol. 100, no. 4, pp. E672-E680. https://doi.org/10.1210/jc.2014-3556

Review article

Balagamage, C, Arshad, A, Elhassan, YS, Ben Said, W, Krone, RE, Gleeson, H & Idkowiak, J 2023, 'Management aspects of congenital adrenal hyperplasia during adolescence and transition to adult care', Clinical Endocrinology. https://doi.org/10.1111/cen.14992

Subramanian, A, Idkowiak, J, Toulis, K, Thangaratinam, S, Arlt, W & Nirantharakumar, K 2021, 'Pubertal timing in boys and girls born to mothers with gestational diabetes mellitus: a systematic review', European Journal of Endocrinology, vol. 184, no. 1, pp. 51–64. https://doi.org/10.1530/EJE-20-0296

View all publications in research portal