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. 2024 Aug 23;16(8):e67571. doi: 10.7759/cureus.67571

Table 3. Final diagnosis and frequency of 150 patients with DSD.

CAH: congenital adrenal hyperplasia, DSD: disorders of sex development

*Of the total from each row. **3-beta hydroxysteroid dehydrogenase deficiency (three patients), 17-alpha hydroxylase deficiency (four patients). ***29 out of 38 patients (76.3 %) have karyotype (45 X0), and nine (23.6%) have (45X,46XX) mosaic karyotype.

Class   Diagnosis Number (%*)
  46, XY DSD Androgen insensitivity syndrome 31 (59.6)
5-Alpha reductase deficiency 7 (13.5)
CAH (rare)** 7 (13.5)
Gonadal dysgenesis 7 (13.5)
46, XX DSD Classic CAH 33 (78.6)
Gonadal dysgenesis 6 (14.3)
Ovotesticular DSD 3 (7.1)
Sex chromosomal DSD Turner*** syndrome 38 (67.9)
Klinefelter syndrome 15 (26.8)
Mixed gonadal dysgenesis 3 (5.4)
Total   150 (100)