Long-term follow-up results of patients operated due to disorders of sex developments

It was aimed to reveal the follow-up results of the patients who were operated with the diagnosis of disorders of sex development (DSD) and compare them with the literature. Patients who underwent surgery due to DSD in Gaziantep University Faculty of Medicine, Department of Pediatric Surgery between 2009 and 2020 were included in the study. Patients were identified by scanning the file information backwards. Demographic and clinical characteristics of the patients who came to the outpatient clinic, their surgeries, surgical complications, post-surgical satisfaction and concerns of the families, hormone values checked during diagnosis and d2/d4 finger measurements were recorded in the follow-up system. A total of 62 patients were included in the study. %58 of the patients were diagnosed with 46XX DSD, %40 with 46XY DSD, and %2 with mixed gonadal dysgenesis. All 46XX DSD patients were diagnosed with congenital adrenal hyperplasia and 21- hydroxylase deficiency constituted %89 of them, while androgen insensitivity syndromes constituted %72 of 46XY DSD patients. While %65 of the patients had a family history, %73 had consanguineous marriage. The most common comorbid disease was epilepsy with %8. While the mean age of operation of 46XX DSD patients was 29 months, 46XY DSD patients were 73 months. It was seen that DSD was diagnosed with high accuracy by looking at the levels of total testosterone, antimullerian hormone and 17-hydroxy progesterone. It has also been observed that there is an inverse ratio between androgen exposure and the d2/d4 finger ratio. Almost all 46XX DSD patients underwent feminizing genitoplasty, while %72 of 46XY DSD patients underwent masculinizing genitoplasty. Complication rates were found to be lower and satisfaction rates were higher with a single-stage operation in the early period in patients with suitable anatomy and especially for whom feminizing genitoplasty would be performed. The most common surgical complication was urethral stenosis (%30) in patients who underwent masculinizing genitoplasty. Despite the fact that 94% of families were satisfied with the cosmetic appearance after surgery,65% were worried about the child's sex life in the following years. As a result, DSD is a group of diseases that should be managed with a multidisciplinary approach, together with the family, and require long-term follow-up. Although there is no consensus on the timing and method of surgery, the results of one-stage surgery in the early period were found to be positive. Key words: disorders of sex development, genitoplasty, congenital adrenal hyperplasia, androgen insensitivity syndromes, d2/d4 finger ratio