Abstract

Introduction: Disorders of sex development (DSD) is a group of diseases that includes many problems such as hormonal disorders and psychosocial differences. The etiology is quite heterogeneous. Early and accurate diagnosis is important for the management of endocrine, surgical and psychosocial problems. In this study, it was aimed to review the clinical profile, etiological classification, diagnostic hormone parameters and anthropometric measurements of patients with DSD and the management of these patients.

Methods: The genetic and hormonal parameters of the patients who were operated for DSD in our clinic between 2009 and 2020 were evaluated retrospectively. Patients with 46 XX and 46 XY-DSD were divided into two groups. Diagnosis and operation ages of the patients and their surgeries were examined. With the questions directed to the parents through the prepared family interview form, consanguineous marriage, family history, surgical complications and recurrent urinary tract infections, their children's satisfaction with their external genitalia and their concerns about their future sexual lives were questioned. The right hand 2nd and 4th finger lengths of the patients (d2/d4) were measured and the two groups were compared with each other and with the values of boys and girls who applied to our outpatient clinic for reasons other than DSD.

Results: Thirty-six (59%) of the patients were 46 XX-DSD, 25 (41%) were 46 XY-DSD, and their mean age was 83 (13-1992 months), 114 (35-252 months) months, respectively. Parental consanguinity was 80% in the 46 XX-DSD group, while it was 64% in the 46 XY-DSD group. Family history was 64% and 68%, respectively. A statistically significant difference was found in the Anti-Mulerian Hormone and 17-OH progesterone values measured at the time of diagnosis of the two groups (p<0.00). There was a statistically significant difference between right hand d2/d4 ratios DSD and control groups (p=0.005). However, there was no difference between the two groups with DSD. The satisfaction of the parents about the external genitalia appearance of the patient after surgery was found to be 90% in those who underwent feminizing genitoplasty and 100% in those who underwent masculinizing genitoplasty. While their concerns about their future sexual life were 63% in the 46 XX-DSD group who underwent genotypeappropriate genitoplasty, 46 XY-DSD was found to be 51%. While their concerns about their future sexual life were 63% in the 46 XX-DSD group who underwent genotype-appropriate genitoplasty, 46 XY-DSD was found to be 51%. All those who underwent genitoplasty in a direction different from their genotype were anxious.

Conclusion: Since DSD is often inherited, consanguineous marriage and family history should be questioned and genetic counseling should be offered to these families. Right hand d2/d4 ratio can give important clues in the diagnosis of DSD in cases with suspicious genitalia, but it has no diagnostic value in the differentiation of 46 XX and 46 XY-DSD. DSD can be diagnosed with high accuracy by looking at Anti-Müllerian Hormone, Testosterone and 17-OH progesterone values together with genotype determination. High satisfaction results can be obtained with one-stage surgery in the early period.

Cite as: Tekin A, Zeytun H, Özokutan BH. Cinsiyet Gelişim Kusurlarında Tanısal Parametrelerin Belirlenmesi ve Opere Edilen Hastaların Uzun Dönem Takip Sonuçları. Coc Cer Derg/Turkish J Ped Surg 2022;36(3):12-18. doi: 10.29228/JTAPS.63001