Introduction: Congenital idiopathic hypogonadotropic hypogonadism is a rare genetic disorder caused by an isolated defect in GnRH secretion by the hypothalamus or, less frequently, by a defect in the action of GnRH on pituitary gonadotropes. The majority of cases are sporadic but there are also family forms. We report a case of one family.
Case report: These are 2 brothers with a family history of primary infertility in the maternal uncle. An 18-year-old girl who consults for primary amenorrhea and a 15-year-old boy admitted for micropenis. There was no anosmia, no tumoral syndrome, nor signs of pituitary insufficiency. The general examination did not show any growth retardation or dysmorphic syndrome, the genital examination in the boy revealed a 2 cm micropenis, non palpable testicles and a Tanner of G1P2. The Tanner in the girl was S1P2 without any abnormality. The hormonal assessment confirmed an isolated hypogonadotropic hypogonadism. Pituitary MRI was normal in both patients. The karyotype was normal in the brother. Abdominal-pelvic MRI showed ectopic testicles in the inguinal orifices. The girl was given estrogen/progesterone, her brother Testosterone Enanthate, he was referred in the same time to urology for orchydopexy.
Discussion: The diagnosis of congenital hypogonadotropic hypogonadism is usually easy. Etiological diagnosis is a field of research based essentially on genetic studies, especially in family forms. Early diagnosis requires vigilance of the parents, as well as prenatal consultations to anticipate treatment.
18 - 21 May 2019
European Society of Endocrinology