17-beta-hydroxysteroid dehydrogenase deficiency natural history, complications and prognosis

The characteristic phenotype at birth is an XY individual with female or ambiguous external genitalia. The majority of those affected have female external genitalia and consequently are raised as girls.

• The characteristic phenotype at birth is an XY individual with female or ambiguous external genitalia.
• The majority of those affected have female external genitalia and consequently are raised as girls.
• 17 beta hydroxysteroid dehydrogenase deficiency has two features;
  • Presence of wolffian duct derivatives (epididymus, vas deferens, and seminal vesicles).
  • Progressive virilization at the time of puberty, both of which depend on the action of testosterone.
• During puberty, individuals with this disease develop some male secondary sex characteristics, such as increased muscle mass, deepening of the voice, and development of male pattern facial and body hair.
• Some affected individuals may also experience gynecomastia. People with this disorder are generally infertile.^[1]

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