Etiology and Clinical Presentation of Disorders of Sex Development in Kenyan Children and Adolescents

Table 1

Etiological classification among karyotyped patients (n = 39).

Main category	Etiologic diagnosis	N	Final gender assignment	Age at final gender assignment (years)
Sex chromosome DSD (n = 2)	45,XO/46,XY mixed gonadal dysgenesis	1	Male	2
	45,X Turner and variants	1	Unassigned
46,XY DSD (n = 19)	Disorder of androgen synthesis/action	6	Male	0.2, 0.3 (2 patients), 0.5, 1.5, and 2
	Disorder of testosterone biosynthesis	4	Male	2, 4, 5, and 9
	5α-Reductase deficiency	2	Male	0.4 and 1.5
	Syndromic associations	2	Male	0.2 and 0.3
	Gonadal regression	1	Male	9
	Partial androgen insensitivity syndrome	1	Male	3
	Not established	3	2 male, 1 unassigned	0.2 and 0.3
46,XX DSD (n = 18)	Ovotesticular DSD	6	4 male	0.1, 0.8, 2, and 8
			1 female	12
	Testicular DSD	5	3 male, 2 unassigned	0.4, 1, and 3
	Congenital adrenal hyperplasia	3	Female	1, 4, and 7
	Ovarian dysgenesis (right)	1	Female	9
	Syndromic associations	1	Female	0.3
	Iatrogenic (non-CAH androgen excess in syndromic baby)	1	Female	0.1
	Not established	1	Female	2