408 Cases of Genital Ambiguity Followed by Single Multidisciplinary Team during 23 Years: Etiologic Diagnosis and Sex of Rearing

Table 2

Frequencies of initial and final sex distributed according to aetiologic diagnosis of 408 consecutive cases of DSD with ambiguous genitalia followed at GIEDDS, UNICAMP, between January 1989 and December 2011.

	Etiologic diagnosis	Age 6 months	Initial sex			Final sex
			M	F	I	M	F
46,XX ovarian DSD	Congenital adrenal hyperplasia	50	7	36	26	0	69
	Isolated clitoromegaly	14	0	10	9	0	19
	Teratogenic	1	0	2	0	0	2
	Syndromic	6	0	7	3	0	10
	Idiopathic	3	0	3	2	0	5
46,XY testicular DSD	Hypogonadotropic hypogonadism	4	12	0	0	12	0
	Defect in the LH/hCG receptor	0	0	2	0	0	2
	Defective synthesis of testosterone	1	1	3	0	1	3
	Androgen insensitivity
	Total	2	0	14	1	0	15
	Partial	4	9	0	1	9	1
	5-Reductase type 2 deficiency	5	2	12	6	13	7
	Muller duct persistence	1	4	0	0	4	0
	Teratogenic	3	4	0	1	5	0
	Syndromic	21	29	1	10	39	1
	Idiopathic	33	57	1	19	76	1
Disorders of gonadal development	Ovotesticular DSD	8	13	4	5	10	12
	Mixed gonadal dysgenesis	13	17	1	7	17	8
	Partial gonadal dysgenesis
	SRY mutation	1	0	0	2	2	0
	WT1 mutation	2	1	2	2	3	2
	NR5A1 mutation	4	4	2	3	8	1
	Undefined cause	8	11	3	8	18	4
	46,XX testicular DSD	1	2	0	1	3	0
	Testicular regression syndrome	0	6	1	0	6	1
Others	Epispadias	2	4	0	0	4	0
	Penis malformation	2	3	0	2	5	0
	Clitoris malformation	2	0	5	1	0	6
	Multiple malformations	2	2	0	2	3	1
Total		193	189	108	111	238	170