A homozygous R262Q mutation in the gonadotropin-releasing hormone receptor presenting as reversal of hypogonadotropic hypogonadism and late-onset hypogonadism

摘要

Congenital hypogonadotropic hypogonadism (HH) is caused by the lack or deficient number of hypothalamic gonadotropin-reieasing hormone (GnRH) neurons, disturbed secretion or action of GnRH, or both. Up to 10% of patients with congenital HH may recover, usually in their mid 20s. Relatively little is known about the factors that lead to the recovery of endogenous gonadotropin secretion in such reversal variants, but androgen exposure seems to play a role. Similarly, the duration of reversal may be variable, and the factors affecting the function of the hypothalamic-pituitary-gonadal axis in these patients are difficult to characterize and would require long clinical and biochemical follow-up.