Initial Assessment Of Brain Sex In Children With 46 XY Disorders Of Sex Development

ObjectiveBecause of ambiguous genitalia in patients with 46,XY Disorder of Sex Development (46,XY DSD), it is usually difficult to assign gender for them. In clinic, the gender assignment of these patients is often depended on the structure of genitalia, and sometimes followed the willing of the parents. However the gender assigned by the physician and parents is not always matching to the own willing of patients. The aim of the study is to assess the brain sex in the patient with 46,XY DSD by the sex psychological assessment inventory, providing an important basis for their gender assignment.MethodRetrospective analyzing the clinical information of 40 patients with 46,XY DSD between 2000 and 2009. The patients go into observation group with:(1)chromosome karyotype 46,XY and SRY gene positive; (2)external genitalia is perineal hypospadias, equivocal or completely female vulva。All of them aged 1～20 years old (median 10.5 years), of them 16 cases<5 years and 24 cases≥5 years. The control group includ 46 patients with phimosis, hydronephrosis, aged 1～17 years old (median 9 years). Of them, 20 cases<5 years and 26 cases>5 years. For those younger than 5 years old. Brain sex was assessed using the Pre-School Activities Inventory (PSAI). The Children's Sex Role Inventory (CSRI) was used in case of older than 5 years of age. The outcome was assessed for the patient individually and collected via personal and parents'interview and a written questionnaire. Statistics analysis was done in the difference between the two groups by the Pearsonχ2 test.ResultsIn observation group aged younger than 5 years,10 cases with perineal hypospadias,4 cases equivocal external genitalia and 2 cases completely female vulva. The previously assigned gender was male in 12, female 4 cases。Of those patients, The brain sex was masculinization in 13 cases, feminization in 3. The coincidence rate of assigned gender and brain sex was 81.3%. Of the control group, the brain sex was all masculinization and the coincidence rate was 100%. Statistics analysis was done in the difference between the two groups by the Pearsonχ2 test and the P value is 0.671. There is no statistical difference.Of those patients aged older than 5 years, there were 24 patients in the observation group,16 cases have perineal hypospadias,10 cases equivocal external genitalia and 8 cases completely female vulva. The previously assigned gender was male in 11 cases, female 13. The brain sex assessment was masculinization in 15 cases, feminization 8, androgynous 1.The coincidence rate between assigned gender and brain sex was 75%. there were 26 patients of the control group.all of them the brain sex were masculinization. The coincidence rate was 100%. Statistics analysis was done in the difference between the two groups by the Pearson x 2 test and the P value is 0.490. There was no statistical difference.ConclusionThe brain sex can be assessed by using the PSAI and CSRI for patients below and above 5 years of age respectively.it is an important basis for gender assignment. The assigned gender by the structure of genitalia is not always matching the brain sex.