Steroid 5α-Reductase Deficiency in Man: An Inherited Form of Male Pseudohermaphroditism
Дефицит стероидной 5α-редуктазы у человека: наследственная форма мужского псевдогермафродитизма
1974-12-27
SCID: 54.1/jdacj2gg
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5alpha-reductase activityautosomal recessive inheritancedihydrotestosterone decreasemale pseudohermaphroditismsteroid 5α-reductase deficiency
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Abstract (AI)
In male pseudohermaphrodites born with ambiguity of the external genitalia but with marked virilization at puberty, biochemical evaluation reveals a marked decrease in plasma dihydrotestosterone secondary to a decrease in steroid 5alpha-reductase activity. In utero the decrease in dihydrotestosterone results in incomplete masculinization of the external genitalia. Inheritance is autosomal recessive.
Key Findings
1
In utero reduction of DHT causes incomplete masculinization of the external genitalia.
2
Male pseudohermaphrodites with ambiguous external genitalia but marked virilization at puberty have markedly decreased plasma dihydrotestosterone (DHT).
3
The condition is inherited in an autosomal recessive manner.
4
The decreased plasma DHT is secondary to reduced steroid 5α-reductase enzymatic activity.
Research Object
Steroid 5α-reductase deficiency in humans (inherited autosomal recessive form associated with male pseudohermaphroditism)
Research Subject
Reduced steroid 5α-reductase activity causing decreased plasma dihydrotestosterone leading to incomplete masculinization of external genitalia and virilization at puberty in affected genetic males
Publication Details
Publication Date
1974-12-27
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