Endocrine Abstracts

Introduction: 46,XX disorder of sexual development (DSD) is a rare cause of sex reversal. Only a few hundred cases have been described. The clinical spectrum can be divided into 3 groups of males according to genital appearance: normal male, atypical variants such as hypospadias or cryptorchidism, and those with both male and female genitalia.

Subcategories of 46,XX DSD include ovotesticular DSD, which is characterised by the presence of both testicular and ovarian tissue in the gonads of the same individual and testicular DSD characterised by a full development of both gonads as testes without any evidence of ovarian tissue. Most cases (~80%) have normal external genitalia at birth and are usually diagnosed after puberty when they present with hypogonadism, gynaecomastia and/or infertility. They usually have normal pubic hair, normal penile size but small testes and sterility due to azoospermia. Approximately 10% of affected individuals have mild or severe genital ambiguity.

Case Series: We present our series of 10 men, 1 with CAH, 1 with SRY translocation, 3 confirmed SRY negative and 5 with as yet unknown SRY status. Two of the individuals are brothers. Gonadal status included 3 men with gonadal dysgenesis and 4 ovotestes. Genitalia appearance comprised 1 hypospadia, 1 normal genitalia with infertility and 1 virilisation requiring a penile implant.

Discussion: Because central London has such a genetically diverse population and as our centre has a longstanding interest in DSD we have found a spectrum of conditions under the heading of 46,XX DSD. As genetic diagnosis improves so the precision of our knowledge of each condition will develop. Management requires a multidisciplinary approach with specialist urology, endocrinology and psychology input.