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

Julie Sarfati , Camille Vatier (1, 2) , Isabelle Keller , Jérome Guéchot , Christine Bellanné-Chantelot , Sophie Christin-Maitre

1 SU - Sorbonne Université
2 CRSA - Centre de Recherche Saint-Antoine

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.

Keywords: 21 hydroxylase deficiency adrenal tumors azoospermia TARTs; 21 hydroxylase deficiency; adrenal tumors; azoospermia; TARTs

Domains: Life Sciences [q-bio]

Julie Sarfati, Camille Vatier, Isabelle Keller, Jérome Guéchot, Christine Bellanné-Chantelot, et al.. Severe Congenital Adrenal Hyperplasia Presenting as Bilateral Testicular Tumors and Azoospermia in the Third Decade of Life. Journal of the Endocrine Society, 2018, 2 (9), pp.997 - 1000. ⟨10.1210/js.2018-00103⟩. ⟨hal-03982827⟩