Severe Congenital Adrenal Hyperplasia Presenting as Bilateral Testicular Tumors and Azoospermia in the Third Decade of Life

Journal of the Endocrine Society
Julie SarfatiSophie Christin-Maitre

Abstract

Classic forms of 21-hydroxylase deficiency (21OHD) are usually diagnosed at birth by salt wasting or precocious puberty in male patients. Here we report the case of a 32-year-old male patient who presented with azoospermia and bilateral testicular tumors. He was referred to our endocrine unit after testicular surgery. His gonadotropins were undetectable. Liquid chromatography-tandem mass spectrometry revealed a high serum progesterone level, high 17-hydroxyprogesterone (17OHP) (255 ng/mL), and high levels of 17OHP metabolites, suggesting a classic form of 21OHD. His blood pressure was normal. Molecular analysis showed a homozygous large 21-hydroxylase gene (CYP21A2) conversion. Furthermore, an adrenal CT scan revealed voluminous, heterogeneous bilateral and asymmetric adrenal masses containing calcifications. Our case report illustrates the fact that a classic form of 21OHD can be diagnosed in late adulthood, manifested by azoospermia and large adrenal tumors, associated with elevated 17OHP.

References

Mar 2, 2010·The Journal of Clinical Endocrinology and Metabolism·Nicole ReischFelix Beuschlein
Dec 14, 2011·European Journal of Endocrinology·Henrik FalhammarMarja Thorén
Jul 10, 2013·The Journal of Clinical Endocrinology and Metabolism·Richard J Auchus, Wiebke Arlt
Feb 28, 2015·International Journal of Endocrinology·Nathalie LaunayPaul Legmann
Jun 4, 2017·Lancet·Diala El-MaoucheDeborah P Merke

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