Disorders of Sexual Development: Presentation and Categorization at Allied Hospital / Punjab Medical College Faisalabad, Pakistan

Abstract

Background: Ambiguous genitalia is a condition in which external genitalia of the patients are ambiguous (not clearly male or female) or their external genitalia do not match with the chromosomal sex. It’s a rare condition and its incidence is 1.7%, or others say 1/5500 live births. Current nomenclature defines it as “disorder of sexual development” (DSD). It is generally divided into six categories; 46 XY DSD,46 XX DSD, chromosomal DSD, ovo-testicular DSD, 46 XY complete gonadal dysgenesis & 46XX testicular DSD. I_DSD registry (Glasgow) is the largest organization which registers such cases for clinical research and standardizes the information. Data from 51 centers from 36 countries across the globe is being uploaded there. Urology Department of Allied Hospital Faisalabad is the only center from Pakistan which registers its cases. Objectives: To identify and categorize different presentations of DSD according to the standard nomenclature. 2-To register the cases of DSD to I-DSD registry in Glasgow to be included in further clinical research. Study Design: Retrospective study. Settings: Urology Department Allied Hospital Faisalabad, Pakistan. Duration: From 01-09-2008 to 31-08-2019. Inclusion Criteria: All the patients with indeterminate sex / ambiguous genitalia presenting to OPD of Allied hospital Faisalabad irrespective of age Exclusion Criteria: Patients previously operated for DSD / with unrecorded data at first presentation. Methodology: Relevant data was retrieved from patients’ charts taken from hospital records, with the permission of hospital administration to publish their data. Patients had been evaluated with history/examination for phenotypical sex, with karyotyping for chromosomal sex, and ultrasonography & hormonal analysis (serum testosterone, FSH, LH and Estradiol) for gonadal sex. Specific tests like 17-OH levels performed in selected patients (CAH). Gender assignment was done according to chromosomal sex, after counselling of parents and adult patients. Results: Total 34 patients were enrolled. Mean age at presentation was 16.38 ± 9.38 years (range 10 months to 42 years). Nine of 34 patients were brought up as females, one as intersex and 24 as males. After categorization of various clinical presentations according to standard nomenclature, 27(79.4%) belonged to 46XY DSD category, 03(8.80%) to 46XX DSD, 02 (5.88%) to chromosomal DSD, 01(2.90%) was 46XY complete gonadal dysgenesis and 01(2.90%) patient belonged to ovo-testicular DSD. None of the patients had 46XX testicular DSD. Among the presumed female patients, six were chromosomally male and were having perineal hypospadias and were later assigned the male gender. Among the presumed male patients, two were diagnosed as CAH patients with XX genetic makeup. Three patients were having exstrophy epispadias complex, 15 patients were having perineal hypospadias (majority with undescended testes) and 7 had penoscrotal hypospadias. Conclusion: Identification & categorization of indeterminate sex and gender assignment is mandatory for social & psychological well-being of patients and their families.