Disorders of sex development: Ambiguous genitalia and partial androgen insensitivity syndrome

Abstract

Background - Disorders of sex development (DSDs) also known as “intersex” are congenital conditions in which chromosomal, gonadal, and anatomical development mismatch. One in 4,500 infants is born with abnormalities of external genitalia, which are mostly unexplained in molecular terms. Androgen insensitivity syndrome (AIS) is a common cause of DSDs. Objective - One of the three broad subdivided phenotypes of AIS are partial androgen insensitivity syndrome (PAIS). Feminization (i.e., undermasculinization) of the exterior genitalia at birth, secondary abnormal secondary sexual development at puberty, and infertility in individuals with 46, XY karyotype are the proof. In males, PAIS is common to observe a micropenis, hypospadias, and cryptorchidism. Women who have clitoromegaly and fused labia during puberty are characterized as individuals with PAIS. Case - We reported a 13-year-old child with the chief complaint of primer amenorrhea. The patient was a girl but not yet got her menstruation. Patient was referred by a Endocrinology Fertility and Reproductive Consultant of OBGYN who had done chromosomal and hormonal analysis. We performed a laparoscopic explorative study where we did not find uterus, fallopian tubal, and ovaries. But, we found testis in the inguinal canal. Conclusion - Decisions regarding gender assignment are still confronted between patient’s family and medical staff. The ambiguity of genital, physical, and psychosocial adjustment for sex assignment can determine the prognosis.