Boys with familial gonadotrophin-independent sexual precocity with premature maturation of Leydig and germ cells have enlargement of their penis and virilisation, but only minimal enlargement of their testes since there is predominant stimulation of Leydig cells and relatively less enlargement of the seminiferous tubules ΓÇô the tissue most responsible for the pubertal enlargement of the testes. These patients have elevated testosterone levels but suppressed gonadotrophin levels. The condition is also known as testotoxicosis.
Preliminary reports suggest that these patients have circulating Leydig cell stimulatory factor, but the nature of this factor has not yet been determined. Remarkably, these children achieve only a small decrease in final height and, when they reach adulthood, fertility is achieved as demonstrated by the familial nature of this disorder (sex-limited autosomal dominant condition).
