Familial Syndrome of Primary Testicular Insufficiency with Normal Virilization, Blindness, Deafness and Metabolic Abnormalities

Abstract

In spite of the presence of small testes and elevated urinary gonadotropin levels, two brothers with a new syndrome of familial hypogonadism had normal secondary sex characteristics. Associated findings were blindness, deafness and several metabolic abnormalities, including hyperuricemia and elevated serum triglyceride and pre-beta-lipoprotein values. Testicular-biopsy specimens showed small hyalinized tubules and abundant Leydig cells. The plasma testosterone levels of both siblings were below the adult male range, but similar to those of adolescent males with established signs of masculinization. Chorionic gonadotropin in large doses did not raise the plasma testosterone level, suggesting decreased Leydig-cell reserve. This syndrome resembles that described by Alstrom and his co-workers, but is clearly distinguishable from other known types of familial hypogonadism.