Definition:
17-beta-hydroxysteroid dehydrogenase deficiency-3 is a rare disorder of sexual development which affects the biosynthesis of testosterone which can produce male pseudohermaproditism (intersexuality) of genetically male infants and children .This autosomal recessive medical condition can bring about great effects in the primary and/or secondary sex attributes among male and female individuals.
Diagnosis:
Diagnosis of male pseudohermaphroditism due to 17-beta-hydorxysteroid dehydrogenase deficiency-3 is often detected due to absence of the first menstruation that is generally expected to come about in all female persons and when they gradually display common characteristic of a male person reaching puberty including acne, male musculature, and development of male voice characteristics. In the course of the examination, the medical practitioner will discover the testis in the inguinal channel.
Symptoms and Signs:
17-beta-hydroxysteroid dehydrogenase deficiency-3 has clinical manifestations of indefinite and unclear external genitalia that can appear as a large clitoris or small penis or complete female genitalia at birth. This is a result of the male sexual differentiation impairment in 46, XY persons. Complete absence of male sexual differentiation can result to the development of female external genitalia. Prior to detection, these children will be brought up and nurtured as females.
Causes:
Male pseudohermaphroditism due to 17-beta-hydroxysteroid dehydrogenase deficiency-3 is caused by gene mutations originating in the 17Beta Hydroxysteroid dehydrogenase.
:
malepseudohermaphroditismdueto17betahydroxysteroiddehydrogenasedeficiency
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