Urzola A, Leger J, Czernichow P
Department of Pediatric Endocrinology and Diabetology, Robert Debré Hospital, Paris, France.
Horm Res. 1999;51(2):101-4. doi: 10.1159/000023324.
This paper reports 3 cases of congenital GH deficiency with male pseudohermaphroditism. All 3 showed a normal male karyotype, hypospadias of different degrees, and, for 2 of them, micropenis. No müllerian structure was individualized since pelvic ultrasound and genitography were normal. Patient 1 was born with multiple anomalies and patient 3 showed partial agenesia of the corpus callosum. Only 1 patient showed complete anterior pituitary deficiency. Gonadotropin defects were not investigated. We postulate that GH might play a role in early testosterone stimulation, and thus in male sexual differentiation.
本文报告了3例先天性生长激素缺乏伴男性假两性畸形的病例。所有3例均表现为正常男性核型、不同程度的尿道下裂，其中2例伴有小阴茎。由于盆腔超声和生殖器官造影正常，未发现苗勒管结构。患者1出生时伴有多种畸形，患者3表现为胼胝体部分发育不全。仅1例患者表现为完全性垂体前叶功能减退。未对促性腺激素缺陷进行研究。我们推测生长激素可能在早期睾酮刺激中起作用，从而在男性性别分化中起作用。
