Abstract

A REVIEW ON 5-ALPHA-REDUCTASE 2 DEFICIENCY IN NEWBORNS

Reshma Rajan*, Dhanya Dharman and Shaiju S Dharan

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Abstract

5α-reductase type 2 deficiency (5αRD) is an autosomal recessive hereditary disease of the group of 46, XY disorders of sex development (DSD) characterised by lack of masculinisation in XY individuals due to failure to convert testosterone to dihydrotestosterone, the bioactive androgen. Clinical presentation of these children vary from normal male genitalia to a completely female genitalia. Most of the children with 5AR2D are raised as females and gender conversion to male happens at around puberty due to masculine and voice changes caused by testosterone. Early diagnosis is beneficial in treating this problem. Elevated testosterone: DHT ratio with administration of beta human chorionic Gonadotropin (HCG) is the gold standard test in diagnosis of this defect. Most patients of 5 alpha reductase 2 deficiency are considered infertile, but with recent advancements in assisted reproductive techniques a few 5AR2D have been successful in giving birth to their offsprings.

Keywords: 5AR2D, offspring, masculinisation, dihydrotestosterone, atypical genitalia.