Gender Identity and Assignment Recommendations in Disorders of Sex Development (DSD) Patients: 20 years’ Experience and Challenges

Gender assignment in infants and children with disorders of sex development (DSD) is a stressful situation for both patient/families and medical professionals. The purpose of this study was to investigate the results of gender assignment recommendations in children with DSD in our clinic from 1999 through 2019. The mean age of the 226 patients with DSD at the time of first admission were 3.05 ±4.70 years. 50.9% of patients were 46,XY DSD, 42.9% were 46,XX DSD and 6.2% were sex chromosome DSD. Congenital adrenal hyperplasia (majority of patients had 21-OH deficiency) was the most common etiological cause of 46,XX DSD. In 46,XX patients, 87 of 99 (89.7%) were recommended to be raised as a female, 6 as a male, and 4 were followed up. In 46,XY patients, 40 of 115 (34.8%) were recommended to be raised as a female, and 70 as male (60.9%). In sex chromosome DSD patients, 3 of 14 were recommended to be raised as a female, 9 as a male. The greatest difficulty in making gender assignment recommendations were in the 46 XY DSD group. We present 20 years of experience in DSD gender assignment recommendations, and find that the etiologic diagnosis, psychiatric gender orientation, expectation of the family, phallus length and Prader stage were effective in the gender assignment in DSD cases (especially the first two factors). It is important to share these experiences among the medical professionals who are routinely charged with this difficult task in multidisciplinary councils.