Familial male hypogonadism is a highly heterogeneous category from which some disorders such as Reifenstein syndrome (312300), Kallmann syndrome (see 308700), isolated gonadotropin deficiency, and some other entities can be separated. The presence of an autosomal recessive form ... Familial male hypogonadism is a highly heterogeneous category from which some disorders such as Reifenstein syndrome (312300), Kallmann syndrome (see 308700), isolated gonadotropin deficiency, and some other entities can be separated. The presence of an autosomal recessive form is suggested by the occurrence of parental consanguinity (Nowakowski and Lenz, 1961).
Ferriman (1954) described a possibly distinct form in 2 sons of first-cousin parents. First-degree hypospadias, small penis, gynecomastia, markedly diminished secondary sexual characteristics, and normal-sized testes were described. In all respects except the parental consanguinity suggesting recessive inheritance, ... Ferriman (1954) described a possibly distinct form in 2 sons of first-cousin parents. First-degree hypospadias, small penis, gynecomastia, markedly diminished secondary sexual characteristics, and normal-sized testes were described. In all respects except the parental consanguinity suggesting recessive inheritance, the disorder clinically resembled Reifenstein syndrome (312300).