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Abstract Background Disorders of sex development (DSD) comprise a wide range of conditions with varying features and pathophysiology that most often present in the newborn or the adolescent. Affected newborns are born with ambiguous genitalia, whereas adolescents present with atypical sexual development during the pubertal years. Aim of the Work To study the clinical and biochemical profile of patients with 46, XY disorders of sex development. Patients and Methods This was a descriptive study, conducted on 50 patients with 46, XY DSD attending the Pediatric Endocrinology clinic, Children's Hospital, Ain Shams University were recruited from April 2019 till April 2020. Results In our study 88% of cases were reared as males, while 12% were reared as females. The mean age at diagnosis was 2.48 ± 1.33 years with a range of 1-7 years. Parental consanguinity was present in 28 (56.0%) patients and a positive family history in 10 (20.0%). Mean external masculinization score (EMS) in our study was 3.30 ± 1.81 and ranged from 0 to 9 with a median of 3. The mean of stimulated Testosterone / Dihydrotestosterone (T/DHT) ratio was 17.5 (7.8-26) and ranged between 1.5 and 66.6. The median of Anti Mullerian Hormone (AMH) was 56 ng/ml and ranged between 19.08 and 105 ng/ml. There was correlation between EMS final score and stimulated DHT (r = 0.54, P = 0.000). Of note 6 (12.0%) patients had reconstruction of scrotum, 7 (14%) had undergone inguinal hernia repair, 12 (24%) had undergone correction of hypospadias, 6 (12.0%) bilateral gonadectomy,6 (12.0%) left orchiopexy, 3 (6.0%) right orchiopexy and 10 (20%) bilateral orchiopexy. Conclusion Due to the overlapping clinical and biochemical parameters in various subsets of DSD, only a preliminary etiological diagnosis can be made in some cases. Genetic examination with long-term follow-up are needed for a precise diagnosis. Management of these patients is multidisciplinary which needs an endocrinologist, gynecologist, psychologist, pediatrician, and clinical geneticist.
Ali et al. (Sat,) studied this question.