Clinical and laboratory profile of patients with disorders of sex development: Experience from two tertiary care hospitals in Bangladesh
Abstract
Disorders of sex development (DSD) are relatively rare conditions where gender assignment remains uncertain, presented with ambiguous genitalia in newborns, and atypical sex development in adolescents. Management remains a challenge for all professionals involved and largely depends on the participatory factors responsible for the causation of the disorders.
Patients and Methods: All patients with the complaint of atypical features of sex development, attending the pediatric endocrine unit of two tertiary level hospitals in Dhaka city, in a period of 24 months from May 2017 to May 2019 were incorporated in this study and their clinical, hormonal and cytogenetic findings have been documented.
Results: Among 77 DSD patients under this study, there were 43 (55.84%) 46, XX DSD cases, 30 (38.96%) 46, XY DSD cases, and 4 (5.19%) sex chromosome DSD cases. The age of presentation ranged from 0 days to 19 years with a mean of 2.29±4.2 years. Only 16.9% of the cases presented in their neonatal period. Almost all (98.7%) patients featured genital ambiguity. Congenital Adrenal Hyperplasia (CAH) had been found in all of the 46, XX DSD cases and in 1 sex chromosome DSD case. Among the patients with 46, XY DSD, 5 patients had PAIS (Partial Androgen Insensitivity Syndrome), 5 patients had CAIS (Complete Androgen Insensitivity Syndrome), 3 patients had 5αRD (5α Reductase Deficiency) and 5 patients had GD (Gonadal Dysgenesis). The gender of rearing was male in 25 (32.5%) cases and female in 52 (67.5%) cases. During the study period, 12 (15.58%) patients had undergone surgical intervention, 35 (45.54%) patients had been referred for surgery, 36(46.8%) patients were under hormonal therapy, and for 2 (2.6%) patient’s operation had been planned.
Conclusions: As according to the finding of this study, AIS was the most common etiological findings among 46, XY DSD cases, and CAH was exclusively present among all 46, XX DSD cases.
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References
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