A retrospective hospital-based study was conducted at the Pediatric Endocrine Division, King Khalid University Hospital (KKUH), King Saud University, Riyadh, Saudi Arabia, during the period July 1983 and June 2017.
Methods: Medical records of patients who were diagnosed with DSD were retrospectively reviewed. Data included the etiological diagnosis, clinical history, physical examination, results of laboratory and radiological investigations, medical and surgical options offered, and results of follow-up. Laparoscopy or laparotomy with gonadal biopsies was done when appropriate.
Results: During the period under review, a total of 203 patients with Disorders of Sex Development (DSDs) were evaluated. Their ages ranged between one day and 13 years. Hundred- thirty-nine (68.5%) patients were genetic females (46 XX). Congenital Adrenal Hyperplasia (CAH) is the most common, in 137(98.5%) patients.
Conclusion: Disorders of sex development are a group of heterogeneous conditions with variable aetiologias. Many patients with DSD have a good quality of life and lead a near-normal life, though some have not. The severity of the disorder, initial evaluation and follow-up by a specialized multidisciplinary team, good psychological support, and proper education were important. Finally, sex assignments should be made early after a thorough investigation.
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Published on: Sep 24, 2024 Pages: 14-17
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DOI: 10.17352/ijcem.000061
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