The Laurence-Moon Syndrome With Germinal Aplasia of the Testis: Report of a Case and Review

Abstract

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.

The Pituitary Gland in the Laurence-Moon Syndrome

“…6 " 8,11 Early data from testicular biopsies are confusing, the histologic changes being compatible with either hypogonadotropic hypogonadism or germinal aplasia. 5,7,8,13 More recent evaluations of the hypothalamus-pituitary-gonadal axis of patients with these disorders suggest that the major defect is related to gonadal failure, endorgan insensitivity to gonadal steroids, or pituitary gonadotropin deficiency. Toledo and associates 4 published clear documentation of normal hypothalamus-pituitary endocrine function and testicular morphologic features; these findings suggest that an evolving primary gonadal disorder is present in patients with the Bardet-Biedl syndrome.…”

“…410 In much of the early literature, conclusions about the cause of the hypogonadism were based on measurements of urinary gonadotropins, and the results were frequently conflicting. 7,8 Recent studies have evaluated the hypothalamus-pituitary-gonadal axis more systematically, but these reports are too few, and in some cases contradictory, to offer a satisfactory explanation for the hypogonadism. 4,5 ' 9 ' 10 Testicular morphologic features have been assessed in several communications, 4 " 8,11 but very little information is available regarding the morphologic characteristics of the pituitary gland in patients with the Laurence-Moon syndrome.…”

“…7,8 Recent studies have evaluated the hypothalamus-pituitary-gonadal axis more systematically, but these reports are too few, and in some cases contradictory, to offer a satisfactory explanation for the hypogonadism. 4,5 ' 9 ' 10 Testicular morphologic features have been assessed in several communications, 4 " 8,11 but very little information is available regarding the morphologic characteristics of the pituitary gland in patients with the Laurence-Moon syndrome. 12,13 In this report, we describe the morphologic and immunocytochemical features of the pituitary gland of such a patient.…”

Familial syndrome of progressive cone dystrophy, degenerative liver disease and endocrine dysfunction

“…Only in patient 2 do we have exact information on the conditions during pregnancy. Tn the LMBB syndrome, the endocrine defects are sometimes described as target organ defect (OettlC et al 1960) and sometimes as a hypogonadotropic hypogonadism (Reinfrank & Nicols 1964). Recent studies on the LMBB syndrome (PCrez-Palacios et al 1977) suggest a hypothalamic defect in this disorder.…”

Reversible hypogonadism in Bardet-Biedl syndrome

“…Hypogonadism in males is one of the five cardinal features of BBS (3,4) being reported frequently (5)(6)(7). The pathogenesis of hypogonadism is not clear with evidence provided for hypothalamic-pituitary (8) as well as testicular dysfunction (9).…”