Abstract
A 22-year-old woman had polyostotic fibrous dysplasia (POFD) and idiopathic hypothalamic hypogonadotropic hypogonadism (isolated gonadotropin deficiency). Recurrent fracture of dysplastic bone during childhood was associated with primary amenorrhea, clinical and laboratory evidence of estrogen deficiency, and subnormal circulating and urinary gonadotropin levels during adolescence. Gonadorelin (luteinizing hormone-releasing hormone) stimulation initially showed a luteinizing hormone (LH) response but absent follicle-stimulating hormone (FSH) response. After three months without estrogen and progesterone and after four days of gonadorelin "priming," a subsequent gonadorelin infusion produced an enhanced LH and FSH response. All other tests of peripheral and trophic hormone levels and pituitary trophic hormone reserves were normal. Whereas POFD is known to occur with sexual precocity and other endocrinopathies, to our knowledge this is the first report of its association with isolated gonadotropin deficiency.
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