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Images Figs. 18-21 Figs. 11-13 Figs. 14-17 Figs. 6-10 Figs. 1-5

A case is described of the complete form of the Laurence-Moon syndromehypogonadism, polydactyly, obesity, mental retardation and retinitis pigmentosa-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 LaurenceMoon syndrome is unsatisfactory. A suggestion that linked genes may account for the various manifestations of the S}nidrome is also untenable. The condition appears consistent with an autosomal recessive pleiotropic gene, varying in penetrance and expressivity.