Dr Jan Idkowiak MD, PhD, MRCPCH

Dr Jan Idkowiak

Institute of Metabolism and Systems Research
NIHR Academic Clinical Lecturer in Paediatric Endocrinology

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 an NIHR Clinical Lecturer in Paediatric Endocrinology, based at the IMSR and at the Department of Endocrinology at the Birmingham Children’s Hospital. His research focuses androgen metabolism. He is interested in inborn errors of steroid metabolism, 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. Jan’s other key interest is the link between paediatric androgen excess and metabolic dysfunction.

Qualifications

Clinical Academic Lecturer in Paediatric Endocrinology:

 

PhD in Molecular Medicine 2015, University of Birmingham

MRCPCH 2014

MD in Medicine/ Developmental Biology 2007, University of Halle-Wittenberg, Germany

Medical State Exam (equivalent to MBChB) 2005, 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.

Teaching

MBChB – Endocrinology

Postgraduate Teaching in Paediatrics – Paediatric Endocrinology

OSCEs – Senior Examiner

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 and adolescent polycystic ovary syndrome (PCOS). 

Other activities

Since 2016 - Executive Board Member of the Centre for Endocrinology, Diabetes and Metabolism (CEDAM), Birmingham Health Partners

Since 2016 - 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

Baranowski E, Arlt W and Idkowiak J (2018) Monogenic Disorders of Steroidogenesis [in special edition: The Adrenal Gland]. Horm Res Paediatr. 2018;89(5):292-310

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. J Biol Chem. 2018 Jun22; 293(25):9724-9735

Elhassan YS, Idkowiak J, Smith K, Asia M, Gleeson H, Webster R, Arlt W and O’Reilly MW (2018) Causes, Patterns and Severity of Androgen excess in 1205 consecutively recruited women. J Clin Endocrinol Metab. 2018 Mar 1;103(3):1214-1223

Idkowiak J, Taylor AE, Subtil S, O'Neil DM, Vijzelaar R, Dias RP, Amin R, Barrett TG, Shackleton CH, Kirk JM, Moss C, Arlt W (2016) Steroid Sulfatase Deficiency and Androgen Activation Before and After Puberty. J Clin Endocrinol Metab. 2016 Jun;101(6):2545-53

Torchen LC, Idkowiak J, Fogel NR, O'Neil DM, Shackleton CH, Arlt W, Dunaif A (2016) Evidence for Increased 5α-Reductase Activity During Early Childhood in Daughters of Women With Polycystic Ovary Syndrome. J Clin Endocrinol Metab. 2016 May;101(5):2069-75

Jühlen R, Idkowiak J, Taylor AE, Kind B, Arlt W, Huebner A, Koehler K (2015) Role of ALADIN in human adrenocortical cells for oxidative stress response and steroidogenesis. PLoS One. 2015 Apr 13;10(4):e0124582 

Mueller JW, Gilligan LC, Idkowiak J, Arlt W, Foster PA (2015) The Regulation of Steroid Action by Sulfation and Desulfation. Endocr Rev. 2015 Oct;36(5):526-63

Oostdijk W, Idkowiak J, Mueller JW, House PJ, Taylor AE, O'Reilly MW, Hughes BA, de Vries MC, Kant SG, Santen GW, Verkerk AJ, 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. J Clin Endocrinol Metab. 2015 Apr;100(4):E672-80

Reisch N, Idkowiak J, Hughes BA, Ivison HE, Abdul-Rahman OA, Hendon LG, Olney AH, Nielsen S, Harrison R, Blair EM, Dhir V, Krone N, Shackleton CH, Arlt W (2013) Prenatal diagnosis of congenital adrenal hyperplasia caused by P450 oxidoreductase deficiency. J Clin Endocrinol Metab. 2013 Mar;98(3):E528-36. doi: 10.1210/jc.2012-3449. Epub 2013 Jan 30.

Lavery GG, Idkowiak J, Sherlock M, Bujalska I, Ride JP, Saqib K, Hartmann MF, Hughes B, Wudy SA, De Schepper J, Arlt W, Krone N, Shackleton CH, Walker EA, Stewart PM (2013) Novel H6PDH mutations in two girls with premature adrenarche: 'apparent' and 'true' CRD can be differentiated by urinary steroid profiling. Eur J Endocrinol. 2013 Feb 1;168(2):K19-26. doi: 10.1530/EJE-12-0628. Print 2013 Feb.

For a full list of Dr Idkowiak's publications.

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