[Gender selection and postoperative follow-up analysis in 85 children with 46, XY disorders of sex development].

Abstract

Objective: To understand the gender selection and prognosis of children with 46, XY disorders of sex development (DSD) after surgery, and to provide reference for future clinical decision-making. Methods: Data of 85 (80 males and 5 females) postoperative patients with 46, XY DSD with follow-up age of 6(4,11) years who were treated at the Department of Endocrinology, Genetics and Metabolism of Beijing Children s Hospital Affiliated to Capital Medical University during the period from September 2009 to April 2018 were retrospectively analyzed. The patients were grouped based on diagnosis. The basis of postoperative gender selection, patient satisfaction and related factors, gender characteristics, and adolescent development were analyzed. The Pre-school Activities Inventory or the Children s Sex Role Inventory were used in the analysis of gender tendency. Mann-Whitney U test was used to compare postoperative gender satisfaction of different factors. The Kruskal-Wallis method was used to compare the postoperative gender satisfaction of each group. Fisher s test was used to compare the follow-up status of male children over 11 years old in each group. Results: Among the 85 patients, 62 individuals were raised as girls after birth, 9 were facultative and 14 as boys. According to the diagnosis, there were 31 individuals in group 1 (with 5α-reductase deficiency), 11 individuals in group 2 (with androgen insensitivity syndrome), 9 individuals in group 3 (with NR5A1 gene mutation), 4 individuals in group 4 (with hypergonadotropic gonadal dysplasia), and 30 indiviudals in group 5 (with unclear diagnosis and normal human choionic gonadotophin test). Among the 71 children who were raised as girls or facultative children after birth, 66 selected as boys, and 5 continued as girls (among them, 3 individuals were female with passive selection, and 2 individuals of testicular dysplasia with uterus in group 4 and 5 were female with active selection). Among the 71 patients faced with gender selection, only one was unsatisfied, that was a postoperative female. There was no significant difference in postoperative gender satisfaction among different disease diagnoses, surgical age and penis length (χ(2)(H)=6.007, P=0.199; Z=-0.860, P=0.390; Z=-0.438, P=0.661). Fifty-nine of the 85 cases completed the gender tendency scale test and 46 cases (78%) were consistent. In the male patients, 45 cases were consistent. Thirteen inconsistent patients (22%) were female or facultative after birth who were 5 years old or older. There was no stigmatization noticed in the inconsistent patients daily life and school social settings. There were 22 male patients aged 11 years and older. They were 13(12,16) years old. Fourteen (64%) individuals penile length reached the normal minimum, 15 (68%) individuals testicular volume were equal or more than 4 ml, 16 (73%) individuals sex hormones entered puberty levels, 12 (55%) individuals had been spermatorrhea, the age of first spermatorrhea was (13.3±2.4) years. They were satisfied and adaptable after surgery. There was no significant difference in the above indicators among the groups (χ²=2.999, P=0.694; χ²=7.278, P=0.086; χ²=5.597, P=0.358; χ²=6.904, P=0.127). Conclusions: The appropriate gender of 46, XY DSD patients was selected according to gonadal status after diagnosis. Regardless the diagnosis, the age of operation and the length of the penis at the first diagnosis, male patients were satisfied with the gender after the operation. A few of patients were inconsistent with the results of gender tendency scale test who were raised as girls or facultative children after birth, and they required sustained special attention. Some of the children showed natural adolescent development in males, and the prognosis may be ideal.