OBJECTIVE:
Y-chromosome gonadal dysgenesis (GD) is a rare subgroup of disorders of sexual development (DSD) which results from underdeveloped testis, which may consist heterogenous symptoms. They are phenotypically classified into 2 groups as complete and partial; while karyotypic description was as 46,XY GD and 45,X/46,XY GD.
METHODS:
Thirty eight cases were followed-up between 1998 and 2016. The age of admission were within 0 to 17,16 decimal years. Clinical and laboratory findings as well as follow-up characteristics of cases were evaluated retrospectively from the patient reports.
RESULTS:
There were 26 cases (4 complete, 22 partial) in the 46,XY GD group, and 12 cases (4 complete, 8 partial) in 45,X/46,XY GD group. The mean age at admission were; 6.2±4.6 years for all cases. Patients with complete GD in the 45,X/46,XY GD group were diagnosed earlier that the patients with complete GD in the 46,XY group (11 years of age vs 14,31 years of age). There was no additional findings in 55% of all patients. Additional clinical findings, mainly short stature, were detected in 75% of the patients in the 45,X/46,XY GD and 30% of the patients in the 46,XY GD groups. All patients with complete 46,XY and 45,X/46,XY GD were raised as females. There was no gender dysphoria in patients that were raised as females, except one. Gonadectomy was applied to the 14 patients with a mean age of 8.75±2.3 years and gonadal pathology results were normal in all cases with no malignency.
CONCLUSION:
Y-chromosome GD is a very heterogenous clinical and genetic disorder with different aspects in diagnosis, treatment, and also for approach to additional problems. Whether having syndromic features or not, associated clinical features may lead to earlier diagnosis, especially in complete form of GD than others. Challenges in the long-term follow-up of patients make impossible to evaluation of appropriateness of sex of rearing decision. Decision of gonadectomy during first decade of these patients seems to be a preventive factor for tumoral development which are usually seen during second decade.