ESPE Abstracts

Background: One of the crucial aspects of the management of disorders of sex development is the assessment of the risk of malignant transformation of a dysgenetic gonad.

Objective and hypotheses: The PCR analysis of germ-cell risk factors as the presence of the TSPY gene may be helpful in decision making of an early gonadectomy.

Results: We report a 46,Xdel(Y)p11.3 girl with gonadal dysgenesis, that was referred to the Department of Pediatric Endocrinology because of discordance between the karyotype assessed by amniocentesis and the postnatal phenotype. The prenatal diagnosis was performed because of the presence of generalized fetal oedema, multiple pulmonary cysts, agenesis of nasal bone on the ultrasound, and revealed 46,XY karyotype. After birth the diagnosis of congenital cystic adenomatoid malformation was established. A girl presented with dysmorphic features (lymphoedema of the feet, epicanthus, micrognathia, and skin malformation on the head) and female external genitalia. The laboratory tests revealed high plasma concentration of FSH (39.1 mIU/ml), normal of LH (4.4 mIU/ml), low of estradiol (8 pg/ml), and testosterone (0.71 nmol/l). The ultrasound visualized the prepubertal uterus, but no ovaries were found. The postnatal karyotype confirmed the deletion of the part of the short arm of Y chromosome – 46,Xdel(Y)p11.3. The PCR analysis confirmed the presence of the deletion encompassing SRY and ZFY1 genes located in short arm of Y chromosome. Moreover, it enabled detection of four genetic markers including TSPY gene located in GBY locus (gonadoblastoma region on Y chromosome). The follow-up was discontinued until the time the patient was 3 years old, when she underwent bilateral adnexectomy. The histopathological examination revealed gonadoblastoma.

Conclusion: We confirmed the association between the presence of the TSPY gene and the development of the pre-malignant lesion as carcinoma in situ– gonadoblastoma in a girl with gonadal dysgenesis at an early age.