THE LAURENCE-MOON SYNDROME WITH GERMINAL APLASIA OF THE TESTIS: REPORT OF A CASE AND REVIEW

Publisher Website
Google Scholar
Abstract
A case is described of the complete form of the Laurence-Moon syndrome[long dash]hypogonadism, poly-dactyly, obesity, mental retardation and retinitis pigmentosa[long dash]in which the hypogonadism included germinal aplasia. Pituitary function was normal, as shown by the presence of adult Sertoli and Leydig cells in the testes, and a high-normal urinary excretion of follicle-stimulating hormone and 17-ketosteroids. The germinal aplasia is considered therefore to be a primary defect and not secondary to a pituitary lesion. The evidence in the literature for hypopituitarism as the cause of the hypogonadism in the Laurence-Moon syndrome is unsatisfactory. A suggestion that linked genes may account for the various manifestations of the syndrome is also untenable. The condition appears consistent with an autosomal recessive pleiotropic gene, varying in penetrance and expressivity.

This publication has 6 references indexed in Scilit: