ESPE Abstracts

Introduction: 45,X/46,XY mosaicism is rare difference/disorder of sex development(DSD) with an incidence of 1.7 per 10,000 newborns. Children with this type of DSD have varying phenotype of internal and external genitalia/ gonads, Turner-like features and increased risk of gonadal malignancy posing great clinical challenge.

Case presentation: A 13-year-old girl was referred for primary amenorrhea. She had been investigated for ambiguous genitalia during infancy with a Prader score of 2 and a palpable gonad on right side. Investigations during mini-puberty showed elevated gonadotrophins-follicular stimulating hormone (FSH)-29 mIU and leutinising hormone (LH)- 12.5 mIU/ml) with high testosterone (2.5ng/ml). Serum 17-hydroxy progesterone levels were normal. Laparoscopy revealed normal appearing right gonad with streaky left gonad and a rudimentary uterus. Her karyotype was 45, X[14]/46, X, der(X) t(X:?Y)[6], with positive SRY gene. She had undergone clitoroplasty at 3 years of age and had been registered and raised as a girl. She was lost to medical follow-up after surgery. On examination, she was below mid-parental height, with Turner-like phenotype. Secondary sexual characteristics were absent with no features of virilization. She had normal intellect with female gender identity. Investigations revealed persistently high gonadotrophins with a delayed bone age. Cardiac and renal anomalies were excluded and growth hormone therapy started. Considering the risk of malignancy, bilateral gonadectomy was done, and histology showed right side testes with immature seminiferous tubules. There was no identifiable gonadal tissue on left side or evidence of germ cell neoplasia. Hormone replacement therapy (HRT) was commenced at 14 years of age. Psychological support and counselling were arranged.

Conclusion: Multidisciplinary approach with tailored management for each patient with parent and patient input is necessary in this condition for various issues including gender assignment, need/timing of surgical interventions, HRT and other medical/psycho-social issues.