Severe Congenital Adrenal Hyperplasia Presenting as Bilateral Testicular Tumors and Azoospermia in the Third Decade of Life - Archive ouverte HAL Accéder directement au contenu
Article Dans Une Revue Journal of the Endocrine Society Année : 2018

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

Résumé

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.
Fichier principal
Vignette du fichier
js.2018-00103.pdf (137.16 Ko) Télécharger le fichier
Origine : Fichiers éditeurs autorisés sur une archive ouverte

Dates et versions

hal-03982827 , version 1 (10-02-2023)

Identifiants

Citer

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⟩
16 Consultations
5 Téléchargements

Altmetric

Partager

Gmail Facebook X LinkedIn More