IMPE Abstracts

Introduction: 5 alpha reductase deficiency is an autosomal recessive genetic disorder recognized as a rare cause of disorder of sexual differentiation that is limited to males mostly. Phenotype of patients associated with this is usually small phallus, bifid scrotum, urogenital sinus with perineal hypospadias and undescended testes. At puberty, phallus size increases and viralization occurs. We here present 2 genetically proven cases from Pakistan with this rare diagnosis which demanded high index of suspicion and early diagnosis so to avoid the social dilemma faced by patients.

Case 1: A five year old child reared as a male who presented to us with the complaint of atypical genitalia since birth. Phenotypically he had no dysmorphic features with average height and built. Genital examination showed EMS score of 5.5 with small phallus fused asymmetrical labioscrotal folds with poor rugae, penoscrotal hypospadias and left undescended testes white right testes was palpable in labioscrotal folds. His HCG stimulation test revealed normal response whereas his genitogram showed male type urethra. Karyotyping showed 46XY normal male and genetic analysis showed two pathogenic variants of SRD5A2 gene associated with autosomal recessive form of steroid 5 alpha reductase deficiency. Parents decided to rear the child as male so the child was started on testosterone cream with plan for orchidopexy and repair of hypospadias.

Case 2: Index case 5 months old child reared initially as a female presented to us with concerns regarding atypical genitalia noted since birth. Phenotypically child no dysmorphic facies and EMS score of 5 having labioscrotal fold not fused in midline, small phallus and bilateral gonads palpable in scrotal folds. HCG stimulation test showed normal response whereas genitogram showed male type urethra. Karyotyping showed 46XY normal male and genetic analysis showed one homozygous pathogenic variant in SRD5A2 gene associated with autosomal recessive steroid 5 alpha reductase deficiency. After the results of genetic workup diagnosis was disclosed to parents and they decided to rear the child as male. We started the child on testosterone cream and repair of hypospadias was done.