Endocrine Abstracts

Introduction: 46,XX, SRY-negative sex reversal is among the rarest forms of DSD. Management is complicated by the psychological issues that patients and families face.

Case report: A boy born to healthy, non-consanguineous parents had bilateral inguinal testes since birth. By 2 years of age both testes were impalpable. The boy was referred for orchidopexy during which a left hypoplastic gonad and a tubular structure were found. Histology showed fragments of an ovary, Fallopian tube and uterine body. The right side was not explored. Further investigations revealed 46,XX, SRY-negative karyotype and no testosterone response to hCG stimulation test. MRI demonstrated a hypoplastic uterus, blind-ending vagina, and right ovary. Genetic analysis was recommended but not performed. The boy first presented to our clinic at 11.1 years with recent weight gain and breast enlargement. On examination he had impalpable gonads, hypoplastic scrotum, micropenis, EMS 6.5, II stage pubic hair and gynecomastia. Hormonal investigations showed undetectable testosterone, oestradiol and AMH, LH - 3.39 mIU/ml (0.8-7.6) and FSH - 14.4 mIU/ml (0.7-11.1). A DSD-gene panel and WES analyses were negative. At 13.9 years, there were no signs of puberty. Hormonal results showed undetectable testosterone and oestradiol, LH - 23.8 mIU/ml, FSH - 53.2 mIU/ml. Pubertal induction with testosterone was initiated. On psychological assessment, he shared feeling different, but had male gender identity. Despite the numerous advice by the medical team, the parents refused to explain the condition to the boy and he was unaware of the presence of ovaries and uterus. At 15 years, he was progressing through puberty (P4, SPL 4.5 cm), had no gynecomastia and was growing appropriately. Since the right gonad was not explored, the histology and tumour risk remain unknown. For this reason, laparoscopy with gonadal biopsy/gonadectomy and Mullerian structure removal is necessary but the boy needs to be fully informed of his condition first.

Conclusion: Patients with DSD are at risk for life-long health issues but these cannot be properly addressed if the child/adolescent is not aware of their condition. Emphasis should be given on the importance of informing the child early on in an age-appropriate way with psychological support.