Surgery in Chinese children affected by 45,X/46,XY disorders of sex development: A 20-year experience in a single center

Abstract

Background: Children affected by 45,X/46,XY mosaicism have a wide spectrum in their phenotypes. Although surgery has a role in management, there is no universally agreed strategy. Methods: We conducted a retrospective review in a tertiary center on the surgical management and its long-term outcomes in children with the karyotype 45,X/46,XY or its variants over a 20-year study period. Patients were divided into 4 groups based on their phenotypes. Results: 22 children(female=13, male=9) were included in the study, and were grouped as I)female phenotype(n = 11), II)ambiguous external genitalia(n = 2), III)undervirilized male with hypospadias(n = 6), and IV)normal male phenotype(n = 3). 19/22(86%) underwent gonadal surgeries(bilateral gonadectomy=15; unilateral gonadectomy=1; testicular biopsy=3) and 8/22(36%) underwent genitalia reconstructive surgeries(hypospadias repair=6; feminizing surgery=2). Gonadal germ cell tumors were detected in 55%, 50% and 50% of Group I, II and III respectively. 3/6 patients required reoperations for complications after hypospadias repairs. None of the patients had recurrence of germ cell tumors after gonadectomy. All the patients who had reached late adolescence or adulthood maintained their genders as their sex of rearing. Conclusions: Majority of 45,X/46,XY children benefit from timely gonadal surgery while genitalia reconstructive surgery can be considered in selected patients. Surgical management can be strategized by patients' phenotypes.