Clinical, laboratory, radiological and genetic evaluation of patients admitted to the Pediatric Endocrinology Polyclinic with gender development disorder between 1999 and 2018

Aim: The aim of this study is to evaluate patients followed with a diagnosis of gender development disorder (GDD) in our clinic in terms of clinical, laboratory, radiological, pathological and genetic aspects and to present their follow-ups with a multi-disciplinary approach. Material and Method: The polyclinic files of 91 patients between the ages of 0 and 18 who were admitted to İnönü University Faculty of Medicine, Department of Pediatrics, Department of Pediatric Endocrinology and Diabetes polyclinics between the years 1999 and 2018 and who were thought to have GDD were evaluated retrospectively. The cases' ages, anamneses, family history, anthropometric measurements, physical examination results, laboratory results, radiological imaging results, genetic analysis results and pathology results were examined from their polyclinic file information. The cases were divided into three groups according to Chicago Classification as 46, XX GDD, 46, XY GDD and genus chromosome GDD. Etiologic distribution was determined with the diagnoses by using clinical, laboratory, imaging methods, genetic analysis and gonad pathology findings. Results: As a result of the etiological classification of 91 cases who presented with GDD; 32 (35.2%) were found to have 46, XX GDD, 34 (37.4%) were found to have 46, XY GDD, and 25 (27.5%) were found to have genus chromosome GDD. When 32 cases with 46, XX GDD were evaluated etiologically, 27 (84,4%) were diagnosed with congenital adrenal hyperplasia (CAH) [17 (53.1%) with 21-hydroxylase deficiency, 10 (31.3%) with 11beta-hydroxylase deficiency], 3 were diagnosed with mullerian agenesis and 2 were diagnosed with gonadal dysgenesis. When the etiologies of 34 cases with 46, XY GDD were evaluated, 12 cases were diagnosed with androgen insensitivity syndrome [10 with partial androgen insensitivity syndrome (29,4%), 2 with complete androgen insensitivity syndrome (5,9%)], 7 (20,6%) cases were diagnosed with gonadal dysgenesis, 4 (11,8%) cases were diagnosed with 5-Alpha reductase deficiency, 3 (8,8%) cases were diagnosed with 17α-OHE, 3 (8,8%) cases were diagnosed with ovotesticular GDD, 2 (5,9%) cases were diagnosed with isolated perineal hipospadias, 1 (2,9%) case was diagnosed with lipoid congenital adrenal hyperplasia, 1 (2,9%) case was diagnosed with vanishing testicles and 1 (2,9%) case was diagnosed with mixed gonadal dysgenesis. When the etiologies of cases with genus chromosome GDD were examined, classical Turner syndrome (45, X0) and its variants [45,X0 /46,XY, 45,X0/46,XX, 45,X0/46,X İ(xq9), 45,X0/46,X del (X) (p21/2), 46,X (xq10)] were found in 22 cases (88,0%), Klinifelter syndrome (47, XXY) was found in 2 cases (8,0%) and 45,X0/46, XY Mixed Gonadal Dysgenesis was found in 1 case (4,0%). Conclusion: The distribution of our cases was found to be in parallel with the literature. In our study, the largest number of cases had 46, XY GDD, followed by 46, XX GDD and genus chromosome GDD. The majority of 46, XX GDD cases were found to be KAH cases. 21-OHE was found the most among KAHs. It was found that a great majority of 46,XY GDD cases consisted of androgen synthesis/effect disorder. When ADS cases were evaluated, KADS cases were found the most frequently. The most frequent genus chromosome GDD cases were TS and variants.