Ambiguous Genitalia in 46 XY Disorder of Sex Development: a Challenging Case of Partial Androgen Insensitivity Syndrome

Abstract

Ambiguous genitalia, micropenis with hypospadias-hypoplastic major labia, hypoplastic Mullerian duct, primary amenorrhea and assigned as women but a male karyotype is a clinical presentation in 46 XY disorder of sex development (DSD) due to partial androgen insensitivity syndrome (PAIS). We reported a case of ambiguous genitalia with under-masculinized male in PAIS. A case report with a literature review of ambiguous genitalia in 46 XY DSD PAIS at Nusa Tenggara Barat Academic General Hospital. A 14-year-old girl presented with ambiguous genitalia and primary amenorrhea. Physical examination revealed Tanner I breast development with Tanner IV pubic hair development, micropenis (2,9 cm) along with hypoplastic major labia, hypospadias and external urethra orifice on the superior vestibulum. Abdominal CT scan revealed a hypoplastic uterus and an indecisive interpretation between immature ovary and testicle on both side where an ovary should be found in normal female. Laboratory result revealed normal testosterone level for male (332 ng/dL), normal estrogen level for female (130 pg/mL), high LH (54,7 mIU/mL), high FSH (>110 mIU/mL), and karyotyping 46 XY chromosome. We suggested comprehensive management to undergo hormonal examination, analysis gonad function, diagnostic laparoscopy for internal genitalia, DNA examination, and also with DSD team that distinguished differentials from 46 XY ovotesticular disorder, 46 XY mixed gonadal dysgenesis, and 5a-reductase type 2 deficiency. The collaborative multidisciplinary approach with appropriate expertise and communication to the parent, are needed to decision regarding gender assignment and avoiding confronted patient.