ESPE Abstracts

Background: Partial gonadal dysgenesis with a 46,XY karyotype (46,XY PGD) is a disorder of sex development (DSD) associated with abnormal development of the gonads. It is characterized by abnormally developed external genitalia with or without Mullerian structures. The degree of abnormality varies from a female phenotype with clitoral hyperplasia to a male phenotype with isolated hypospadias. The incidence is unknown. In 20-30% of patients, gonadoblastoma or invasive germ cell neoplasm develops.

Case report: A 11- year- 4 month-old girl was admitted to the Department of Pediatrics, Endocrinology, Diabetology with Cardiology Devision of the Medical University of Bialystok for diagnosis of a change in voice timbre that had been present for about six months. On physical examination, except for a low voice and hypertrophied clitoris, there were no significant abnormalities. Hormonal studies confirmed high levels of androgens and gonadotropins. Due to the high level of testosterone, the diagnosis was expanded with genetic testing - a normal male karyotype was obtained - 46,XY. Pelvic imaging studies showed a small uterus, a gonad in the right groin suggestive of a testis, and a non-specific tissue structure in the left inguinal region. The patient had the abnormal gonads removed and hormonal treatment was administered.

Results: 1. Patients with abnormal genitalia require genetic diagnosis. 2. Hormonal treatment for patients with a uterus present is estrogen and progesterone, and in girls without a uterus, only estrogen is used. 3. Prophylactic gonadectomy before puberty should be performed in patients with a 46,XY karyotype to avoid androgenization and the development of gonadal malignancies.