Hypogonadotropic hypogonadism associated with retinitis pigmentosa in a female sibship: evidence for gonadotropin deficiency.

Abstract

Three hypogonadotropic female siblings, aged 19, 19 (twins), and 22 yr, with primary amenorrhea, lack of secondary sexual development, and retinitis pigmentosa were evaluated to determine hypothalamic-pituitary-ovarian function and anterior pituitary hormone release. Spontaneous LH, FSH, PRL, TSH, GH, cortisol (F), dehydroepiandrosterone (DHEA), and DHEA sulfate (DHEA-S) secretory patterns were determined by assay of hourly blood samples obtained over a 24-h period. Studies of stimulated release of anterior pituitary hormones included: gonadotropin response to LRF (two 10 µg iv pulses at 2-h intervals) before and after 1) estradiol benzoate (5 µg/kg- 12 h, im for 5 days) and 2) repetitive low dose LRF (0.025 µg/kg. 2 h, iv for 5 days); PRL and TSH responses to TRH (500 µg iv bolus); and GH and F responses to an insulin tolerance test (0.1 U/kg). Ethinyl estradiol (50 µg/day, orally) was administered for 4 weeks, after which endocrine evaluation was repeated. The mean basal levels of LH and FSH were simila...