Diagnosis and treatment of the heterosomal type of disorders of sexual development

Abstract

Objective To enhance the understanding of diagnosis and treatment of heterosomal type of disorders of sexual development. Methods A retrospective analysis of the clinical data of 39 cases of children with the heterosomal type of disorders of sexual development was conducted in the Department of Urology and Department of Endocrinology of Children′s Hospital of Chongqing Medical University from February 1996 to February 2016, including age, gender, chromosome karyotype, manifestation, surgery and biopsy results and postoperative follow-up situation, etc. Results Among the 39 cases(with mean age of 5.3 years old, ranging from 8 months to 18 years old), 23 cases were boys, 11 cases were girls, and 5 cases were unknown.After treatment, 28 cases were boys, 9 cases were girls, and 2 cases were unknown.In the 39 cases, 6 cases (15.4%) were Turner syndrome, 9 cases (23.1%) were Klinefelter syndrome, 16 cases (41.0%) were mixed gonadal dysgenesis, 7 cases (18.0%) were 46, XX/46, XY mosaicism and 1 case (2.6%) was chromosomal structure abnormality.In 32 cases who received gonadal biopsy, 25 cases were urethroplasty and/or removal of the uterus, vagina and ovaries, 7 cases followed by clitoroplasty and/or orchidectomy; 3 cases underwent only urethroplasty and 4 cases received no surgical treatment.Twenty-one cases of surgical patients (65.6%) were followed up, in which 2 cases of urethroplasty occurred urinary fistula paruria and abnormal micturition repeatedly after 1 year; 4 cases who had been raised by females presented a good situation. Conclusions Combined with high sensitivity and high specificity of chromosome examination method performed for early diagnosis, selection of an appropriate therapy and long-term follow-up are significant to the children with heterosomal type of disorders of sexual development. Key words: Disorders of sexual development; Diagnosis; Therapy