ESPE Abstracts

Objective: Mixed gonadal dysgenesis (MGD) (45,X,46,XY mosaicism) is a rare chromosomal disorders of sexual development (DSD). In this article, single center data were evaluated.

Material Method: From the files of ten patients followed up with the diagnosis of mixed gonadal dysgenesis, complaints and physical examination findings, laboratory tests, chromosome analysis, FISH results, ultrasound, laparoscopy, pathology reports, multidisciplinary council decisions were reviewed. According to the gonadal dysgenesis classification; it was defined as bilateral streak gonad complete gonadal dysgenesis (CGD), one gonad streak one gonad dysplastic gonad mixed gonadal dysgenesis (MGD), bilateral dysplastic testis partial gonadal dysgenesis (PGD) (1). The treatment dose, duration and height gains of the patients receiving growth hormone therapy were evaluated.

Results: The mean age at presentation of the patients was 6.15 (±6.05) years, and the age at presentation ranged from 6 months to 17.5 years. The mean height sds of the patients was -1.34 (±1.56), mean body weight sds -0.23 (±1.43), mean BMI sds was 0.47 (±1.02). Five patients presented with ambiguous genitalia, four patients had short stature, and one patient had amenorrhea. Five patients were completely female phenotype, and five patients were insufficiently virilized male phenotype. External masculinization score (EMS) changes between 1 and 6.5 (2). Seven patients underwent gonadal biopsy. Four of these patients were classified as CGD, two as MGD, and one as PGD. With the decision of the multidisciplinary council, it was decided to raise six patients as girls and four patients as boys. Gonadectomy was performed on the patients who were decided to be raised as girls. Since four of these patients had short stature, growth hormone (45 mcg/kg/day) treatment was started after gonadectomy (3). One patient did not have short stature, and one patient did not come for regular follow-ups. Height gain of the patients was 29.4 (±14.67)cm, height SDS gain was 0.42 (±0.49). Additional estradiol treatment was given to five patients. Short stature was not detected in patients who were planned to be raised as males.

Conclusion: The mixed gonadal dysgenesis phenotype is very diverse. Gender decision of cases with ambiguous genitalia should be made by the multidisciplinary council at an early stage. Growth hormone therapy improves adult height in short girls (3). Therefore, early diagnosis is important for appropriate treatment and follow-up.