Everything about 17-beta-hydroxysteroid Dehydrogenase Deficiency totally explained
17-beta-hydroxysteroid dehydrogenase deficiency-3 is a rare
disorder of sexual development affecting
testosterone biosynthesis, which can produce impaired
virilization (traditionally termed
male pseudohermaphroditism) of genetically male infants and children and excessive virilization of female adults.
It is an
autosomal recessive condition and is one of the few disorders of sexual development that can affect the
primary and/or
secondary sex characteristics of both
males and females.
Prevalence
In the Netherlands, 17-beta-hydroxysteroid dehydrogenase deficiency is estimated to occur 1:147.000 newborns.
Clinical characteristics
17-beta-hydroxysteroid dehydrogenase deficiency-3 is clinically characterized by either ambiguous external genitalia or complete female external genitalia at birth; as a consequence of impaired male sexual differentiation in 46,XY individuals. Further investigations on ambiguous genitalia will eventually lead to findings of
intersexuality. Severely impaired
virilization (often complete absence of male sexual differentiation) can lead to development of female external genitalia. These children are raised as female, and their diagnosis is often discovered when there's absence of menarche (first menstruation) and when they begin to virilize during puberty (slowly become more like a man; deepening of the voice, acne, male musculature etc). At careful examination, testis can often be found in the inguinal channel.
Biochemistry
17-beta-hydroxysteroid dehydrogenase deficiency-3 is biochemically characterized by decreased levels of testosterone and increased levels of androstenedione as a result of the defect in conversion of androstenedione into testosterone. This leads to clinically important higher ratio of androstenedione to testosterone (A'dion/T) (see figure).
Genetics
17-beta-hydroxysteroid dehydrogenase deficiency-3 is caused by gene mutations found in the
17Beta Hydroxysteroid dehydrogenase (17BHSD3). 17BHSD3 deficiency-3 is an autosomal recessive disorder.
Further Information
Get more info on '17-beta-hydroxysteroid Dehydrogenase Deficiency'.
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