ESPE Abstracts

Introduction: Swyer syndrome is a rare disorder of sexual differentiation with a primary amenorrhea resulting from gonadal dysgenesis. It is characterized by the presence of normal female phenotype with 46 XY caryotype. Females with Swyer syndrome have female external genital organs, and streak gonads that should be removed due to their high malignization potential. Instead of gonads, girls with Swyer syndrome have “gonadal streaks”, in which the ovaries do not develop properly (aplasia) and are replaced by fibrous tissue. Due to lack ovaries, girls with Swyer syndrome do not produce sex hormones estrogens and will not undergo puberty without hormone replacement therapy.

Case Report: A 16-year-old kazakh girl with a lead complain on a lack of menstruation was admitted to the pediatric endocrinology department. Physical examination revealed normal female external genitalia but lack of breast growth, scanty pubic and axillary hair. Karyotype twice: 46 XY. A pelvic ultrasound (transabdominal) revealed abnormality of the development of the internal genitals: uterine hypoplasia. MRI of pelvic organs showed a rudimentary uterus with a lack of structural differentiation of tissues. Ovarian aplasia. Molecular cytogenetic study using DNA probes (FISH method): In 100% of the studied interphase nuclei of peripheral blood lymphocyte cells, one copy of the DXZ1 and DYZ3 genes corresponding to the X and Y chromosomes were found, indicating a male karyotype. Hormonal profile confirmd hypergonadotropic hypogonadism specific for this syndrome: estradiol 9.20 pg/ml (25.00 - 345.00), testosterone 0.31 ng/ml (0.15 - 0.40), FSH 67.31 mIU/mL (1.00 - 7.40), LH 37.94 mIU/mL (0.50 - 15.00). The patient underwent laparoscopic surgery: the first was a right-sided oophorectomy with a biopsy of the left gonad, vaginoscopy, cystoscopy, the second was a left-sided gonadectomy, tubectomy on the right also with biopsy.

Conclusion: The results of the biopsy revealed dysgenesis of both gonads with multiple calcifications of the left gonad. After total gonadectomy and absence of malignization risks hormone replacement therapy by estradiol drugs at the dosage 5 μg/kg/day was prescribed to patient with correction of dosage after 6 months.