ESPE Abstracts

Background: This is a case of an 18 year old phenotypic female of Bolivian origin with a 46,XY karyotype, uterus and menstruation with estrogen replacement. She was initially diagnosed with androgen insensitivity based on Leuprolide and HCG stimulation testing results. With menstruation, other etiologies are being considered.

Case presentation: She presented with clitoromegaly and moderate posterior labial fusion (Prader III). Laboratory evaluation at 6–7 months showed a 46,XY karyotype from peripheral blood. Leuprolide stimulation testing showed a baseline LH concentration of 19.6 ng/dl which stimulated to 105.3 ng/dl. HCG stimulation testing showed an elevated baseline testosterone of 161 ng/dl which further stimulated to 553 ng/dl. The presence of a uterus was shown by pelvic ultrasound and confirmed by MRI. The patient was initially diagnosed with androgen insensitivity and the decision was made to rear the patient as a female. She then underwent bilateral gonadectomy, clitoral reduction, and correction of the urogenital sinus by urethral advancement and flap vaginoplasty. Pathology of the gonads showed infantile testes bilaterally. The karyotype from cells cultured from skin and gonads was 46,XY. Genetic testing for androgen receptor defects was negative. Transdermal oestradiol was administered starting at 14 years to induce breast development and continued. She received two courses of progesterone without menstrual bleeding. She later had a menses 11 months after her last course of progesterone.

Objective and hypotheses: The aim is to elucidate a genetic defect leading to this patient’s presentation.

Method: SNP array analysis was performed and whole exome sequencing is being performed.

Results: SNP array analysis was unremarkable. Whole exome sequencing results are pending.

Conclusion: The presence of a functional uterus is unusual in this patient with a 46,XY disorder of sexual differentiation and biopsy confirmed testes. SNP array analysis and whole genome sequencing may be useful in determining the etiology of DSD in this patient and other atypical cases of DSD.