Sarfati Julie, Vatier Camille, Keller Isabelle, Guéchot Jérome, Bellanné-Chantelot Christine, Christin-Maitre Sophie
Assistance Publique-Hôpitaux de Paris, Hôpital Saint Antoine, Paris, France.
Service d'Endocrinologie et Médecine de la Reproduction, Paris, France.
J Endocr Soc. 2018 Jul 4;2(9):997-1000. doi: 10.1210/js.2018-00103. eCollection 2018 Sep 1.
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 () 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.
经典型21-羟化酶缺乏症（21OHD）通常在出生时通过男性患者的失盐或性早熟来诊断。在此，我们报告一例32岁男性患者，其表现为无精子症和双侧睾丸肿瘤。睾丸手术后他被转诊至我们的内分泌科。其促性腺激素检测不到。液相色谱-串联质谱法显示血清孕酮水平升高、17-羟孕酮（17OHP）水平升高（255 ng/mL）以及17OHP代谢产物水平升高，提示为经典型21OHD。他的血压正常。分子分析显示21-羟化酶基因存在纯合大片段转换。此外，肾上腺CT扫描显示双侧肾上腺有大量、不均匀且不对称的肿块，内有钙化。我们的病例报告表明，经典型21OHD可在成年晚期被诊断出来，表现为无精子症和巨大肾上腺肿瘤，并伴有17OHP升高。
