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]