Endocrine Abstracts

Introduction: Mixed gonadal dysgenesis (MGD) is a rare form of difference in sex development (DSD) characterised by mosaic karyotype of 45,X/46,XY and dysgenetic gonads. Gender dysphoria can be associated, the frequency of which is unknown. We describe 2 cases of MGD with gender dysphoria and the conundrum around pubertal induction.

Case 1: An 8-year-old, reared as a girl, presented with longstanding concerns about appearance of external genitalia. She was increasingly identifying as a boy. She had clitorophallic enlargement (2 cm), common urogenital sinus and no palpable gonads. Biochemical investigations showed pre-pubertal gonadotrophins, undetectable testosterone, normal urine steroid profile and normal AMH/Inhibin B. The karyotype was 45,X/46,XY. Laparoscopy showed dysgenetic gonads leading to bilateral gonadectomy. The histology did not show evidence of malignancy.

Case 2: A term baby with DSD was noted to have clitoro-phallic enlargement (1.5cm), chordee, urogenital sinus and a left palpable gonad. Karyotype was 45,X/46,XY and female sex of rearing was assigned. Laparoscopy showed a right streak gonad, an abnormal left testis, right hemi-uterus and fallopian tube. Gonadal biopsy did not show any germ cell tissue. Following extensive MDT discussion and parental input, bilateral gonadectomies and clitoral reduction surgery was performed at 11 months. At 3 years, they were displaying tomboy behaviour and subsequently, the patient started identifying as male. They were referred to a specialised gender identity service where they expressed preference of testosterone as the hormone of choice for pubertal induction.

Discussion: The commencement of puberty in these 2 patients who have been raised as females but identify themselves as males during middle childhood, in the absence of gonads will be solely reliant on induction with exogenous sex hormones. Inducing puberty with testosterone in line with childhood gender identity, may pose ethical dilemmas as they are not of legal consent-giving age. Waiting until legal consent age can potentially entail a risk of significant psychosocial and sexual issues surrounding delaying puberty. Case 2 had a clitoral reduction, which poses a further challenge to gender reassignment in terms of possible surgical outcomes in the future, which may influence decision making regarding hormonal induction of puberty.