SFEBES2018 Poster Presentations Adrenal and steroids (38 abstracts)
Mass spectrometry-based assessment of childhood androgen excess in 487 consecutive patients
Pascoe Mannion 1, , Yasir Elhassan 1, , Karen Smith 3 , Rachel Webster 3 , Vrinda Saraff 2, , Timothy Barrett 2, , Nick Shaw 1, , Nils Krone 2, , Renuka Dias 2, , Melanie Kershaw 2, , Jeremy Kirk 1, , Wolfgang Högler 1, , Ruth Krone 2, , Michael O’Reilly 1, , Wiebke Arlt 1, & Jan Idkowiak 1,
1Institute of Metabolism and Systems Research, University of Birmingham, Birmingham, UK; 2Centre for Endocrinology, Diabetes and Metabolism, Birmingham Health Partners, Birmingham, UK; 3Department of Clinical Biochemistry, University Hospitals Birmingham NHS Foundation Trust, Birmingham, UK; 4Department of Endocrinology and Diabetes, Birmingham Women’s and Children’s Hospital NHS Foundation Trust, Birmingham, UK; 5Academic Unit of Child Health, Department of Oncology & Metabolism, University of Sheffield, Sheffield, UK.
Background: Androgen excess in childhood is a common clinical presentation with potentially serious underlying pathology.
Objectives and Design: We have examined the diagnostic utility of simultaneous measurement of serum dehydroepiandrosterone sulfate (DHEAS), androstenedione (A4), and testosterone (T) to delineate the biochemical signatures of conditions underlying paediatric hyperandrogenism in a large tertiary care referral centre (2013–2017). Serum A4 and T were measured by tandem mass spectrometry, DHEAS by immunoassay; results were interpreted using Tanner-stage defined cut-offs. Patients with ≥1 increased androgen were clinically phenotyped.
Results: 1525 children underwent serum androgen measurements; in 487 children, DHEAS, A4, and T were measured simultaneously, with ≥1 increased androgen in 41% (n=199). Premature adrenarche (PA) was the most common diagnosis (42%), followed by polycystic ovary syndrome (PCOS) in 12.6% and congenital adrenal hyperplasia (CAH) in 7.0%. In 13% of children, the underlying cause could not be established. There was one case of adrenocortical carcinoma (ACC), identified by isolated DHEAS excess (28-fold above upper limit of normal). PA was characterised by raised DHEAS levels in 85% of cases. A4 was raised in 26% of PA children, T in only 9%. CAH was characterised by A4 excess in 86% of patients, whereas T was raised in 35% and DHEAS in only 21%. In adolescent PCOS, the distribution of androgen excess levels was similar for DHEAS, A4 and T (50, 42 and 42%, respectively).
Conclusions: PA was the commonest condition and characterised by DHEAS excess in the majority of cases. CAH most frequently presented with A4 excess and normal DHEAS. In adolescent PCOS, DHEAS, A4 and T excess are evenly distributed. ACC is extremely rare in childhood and isolated DHEAS excess should prompt urgent investigation. To our knowledge, this is the first systematic evaluation of androgen levels in a large cohort of children presenting with hyperandrogenism.
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Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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