[Leydig cell hypoplasia].
The Leydig cell hypoplasia is a rare and well defined form of male pseudohermaphroditism with autosomal recessive inheritance pattern. An inadequate fetal testicular Leydig cell differentiation and, consequently a low androgenic production during intra uterine and post natal periods, result in absence or incomplete virilization in patients with 46,XY karyotype. These patients exhibit a wide clinical spectrum, ranging from complete female external genitalia to male external genital with micropenis, low serum testosterone levels associated with high LH levels. Inactivating mutations of the LH/hCG receptor gene have been identified in affected families in the last decade. However, the low frequency of inactivating mutations in this gene, and the lack of segregation of intragenic polymorphisms among affected members from families with typical phenotype of Leydig cell hypoplasia, suggest the genetic heterogeneity of this condition.
Latronico
Ana Claudia
AC
Laboratório de Hormônios e Genética Molecular, LIM/42, Hospital das Clínicas, Faculdade de Medicina, USP, São Paulo, SP. anacl@usp.br
Costa
Elaine Maria Frade
EM
Mendonça
Berenice B
BB
Arnhold
Ivo Jorge Prado
IJ
D012734:Disorders of Sex Development / Q000175:diagnosis / Q000235:genetics; D006801:Humans; D007985:Leydig Cells / Q000473:pathology; D008297:Male