Lack of gonadotropic response to pulsatile gonadotropin-releasing hormone in isolated hypogonadotropic hypogonadism associated to congenital adrenal hypoplasia.

Congenital adrenal hypoplasia (AH) is a rare condition, known to be associated with isolated hypogonadotropic hypogonadism (IHH). Three studies have reported attempts to stimulate gonadotropin secretion with pulsatile gonadotropin-releasing hormone (GnRH) in a total of 4 patients presenting such a syndrome, with conflicting results. In the present study, one patient with idiopathic IHH and AH was treated with pulsatile sc GnRH--doses ranging from 2.5 to 10.0 micrograms/pulse, every 90 min--during 8 weeks in an attempt to induce puberty. The prepubertal basal plasma levels of LH, FSH and testosterone, and saliva testosterone levels remained unaltered throughout treatment, at all doses of GnRH tested. The gonadotropin response to an acute iv GnRH administration (0.1 mg) also remained at the prepubertal level after pulsatile GnRH treatment. No circulating anti-GnRH antibodies were detected. The absence of gonadotropic response to exogenous pulsatile GnRH suggests that the IHH of patients with AH is due to an abnormal pituitary function rather than to a lack of endogenous GnRH.