Hereditary Male Pseudohermaphroditism Associated with an Unstable Form of 5α-Reductase

Hereditary male pseudohermaphroditism associated with an unstable form of 5 alpha-reductase.

The properties of 5alpha-reductase have been compared in genital skin fibroblasts cultured from five patients from three families (Los Angeles, Dallas, and Dominican Republic) in which hereditary male pseudohermaphroditism has been established to result from deficient conversion of testosterone to dihydrotestosterone. Despite the fact that 5alpha-reductase was immeasurable in a homogenate of ep...

Male Pseudohermaphroditism

Molecular diagnosis of 5alpha-reductase-2 gene mutation in two Indian families with male pseudohermaphroditism.

AIM To identify the genotype of two Indians with male pseudohermaphroditism. METHODS Standard radioimmunoassay procedure was used for estimating hormonal levels. Conventional cytogenetic analysis was carried out for diagnosing the genetic sex in these subjects with genital ambiguity. Molecular analysis was carried out by standard polymerase chain reaction procedure using different sets of pri...

Male Pseudohermaphroditism Presented with Sudden Cardiac Arrest

Torsades de pointes is a life-threatening arrhythmia associated with a number of causes, but is very rare among endocrinologic disorders. We report a case of male pseudohermaphroditism with hyperaldosteronism due to a 17α-hydroxylase deficiency presented with sudden cardiac arrest.

Male pseudohermaphroditism secondary to panhypopituitarism.

An infant with a 46XY karyotype was born with ambiguous genitalia, including microphallus and perineal hypospadias. A female gender was assigned due to extreme failure of development of the external genitalia. Subsequent investigations demonstrated panhypopituitarism, and it is believed that severe gonadotrophin deficiency was responsible for the intersex state. This case illustrates the need t...