Familial Gynecomastia

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Abstract
Three related male subjects presenting a previously un-described syndrome including prominent gynecomastia were studied. Chromosomal analysis revealed a normal male karyotype. Testicular biopsies showed tubular maturation arrest and decreased number of Leydig cells. Biopsy of the breast tissue was compatible with estro-genic stimulation. 17-OHCS (17-hydroxy corticosteroid) and 17-keto-steroids were normal as was urinary 17-ketosteroid fractionation. The excretion of estriol was consistently elevated in each subject. Estrone and estradiol were within normal limits. Assay of total gonadotropins as well as specific assay of FSH (follicle-stimulating hormone) and LH (luteinizing hormone) revealed very low gonadotropin excretion. Other parameters of pituitary function were normal. One subject was treated with suppressive doses of glucocorticoid for 4 months and another subject received chorionic gonadotropin in large doses for 4 months. No masculinization occurred in either subject although both subsequently evidenced rapid masculinization with testosterone administration. The family pedigree suggested that the syndrome was carried as a sex-linked recessive or a sex-limited auto-somal dominant. It is concluded that in this family gynecomastia is a genetic trait associated with secondary suppression of gonadotropins, and that the testes produce inadequate amounts of androgens and are the most likely site of increased estrogen production.
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