ESPE Abstracts

Disorders of sexual development can be suspected from birth if there is genital ambiguity, but sometimes the diagnosis in girls is made at puberty due to lack of pubertal development or primary amenorrhea. Making the correct diagnosis has its relevance in sexual identity, in the initiation of the correct hormone replacement therapy and in its possible association with malignant gonadal tumors. We describe 2 cases with unusual presentation of girls with female phenotype and 46XY karyotype.

Clinical cases: The first case is an 8-year-old girl who was found to have a 46 XY karyotype during a study for anemia. She was referred to the endocrinologist. She underwent a physical examination, with female external genitalia. Hormonal examination showed elevated gonadotropins, with low testosterone and undetectable inhibin-B and AMH. Ultrasound and abdominal MRI showed prepubertal uterus and ovaries without follicular differentiation, leading to the suspicion of Swyer syndrome (genetic study not completed). The family is informed of the diagnosis, and of the need for hormone replacement therapy in the near future. Given the risk of malignization of the gonads, a consensus was reached (surgery, endocrinologist and geneticist) to perform a prophylactic gonadectomy. Prophylactic bilateral gonadectomy was performed (initially). The anatomo-pathological study showed a right dysgerminoma with vascular invasion and left gonadoblastoma. A PET-FDG extension study was performed and was negative. The second case, a Brazilian girl of 11 years old, in Spain since 2 years ago, referred to Endocrinology for absence of uterus detected in Brazil in study of bilateral inguinal hernia at the age of 3 years. Two maternal aunts have total androgen insensitivity syndrome (CAIS). Examination with infantile female external genitalia. Laboratory tests with elevated testosterone, pubertal gonadotropins, inhibin-B and normal AMH; ultrasound and abdominal MRI with absence of uterus and presence of blind vagina, with intra-abdominal gonads (later report from Brazil with gonadal biopsy compatible with testis). Genetics requested, with pathogenic variant in hemizygosis c.2668G>A, compatible with CAIS. Gonadectomy is not indicated for the moment to favor breast development.

Conclusion: Frequently, in patients with female phenotype but 46XY karyotype the diagnosis is delayed until puberty or adulthood, when amenorrhea, pubertal delay, or infertility appears. Although both syndromes have the same phenotype and karyotype, the management of both is conditioned by the risk of gonadal malignancy and the possibility of developing pubertal changes. These cases require multidisciplinary assessment (endocrinologists, surgeons, radiologists, geneticists, and psychologists) for their correct management.