Participation of adults with disorders/differences of sex development (DSD) in the clinical study dsd-LIFE: design, methodology, recruitment, data quality and study population

Table 3 Classification of participants according to the Chicago classification

Diagnosis group	n	Classification	Gender			Sum
Diagnosis group	n	Classification	Female	Male	Other	Sum
Sex chromosome DSD	301	Turner syndrome
		Monosomy: 45,X	150	0	0	150
		Mosaics: 45,X/46,XX	31	0	0	31
		Isochromosomes: 45,X/46,X,i(Xq) \| 46,X,i(Xq) \| 45,X/46,X,i(Xq)/47,X,i(Xq)	59	0	0	59
		Deletions: 45,X/46,X,del(X) \| 46,X,del(X)	19	0	0	19
		Polyploidy: 45,X/46,XX/47,XXX \| 45,X/47,XXX \| 45,X/46,XX/47,XXX/48,XXXX	16	0	0	16
		Ring material: 45,X/46,X,r(X)	12	0	0	12
		Not classified	4	0	0	4
		Unknown	10	0	0	10
	45	45,X/46,XY conditions	31	14	0	45
	218	Klinefelter syndrome
		47,XXY	1	199	4	204
		47,XXY/46,XY	0	5	1	6
		47,XXY/46,XX	0	3	0	3
		Other	0	3	0	3
		Unknown	0	2	0	2
	1	47,XYY^a	0	1	0	1
XY DSD	222	XY, Complete GD	20	0	1	21
		XY, Partial GD	12	25	0	37
		XY, Ovotesticular DSD	3	2	0	5
		CAIS	69	0	2	71
		PAIS	17	18	0	35
		3ß-HSD deficiency	1	1	0	2
		17β-HSD III deficiency	9	0	2	11
		5α-RD II deficiency	2	1	1	4
		17α-hydroxylase/17,20-lyase deficiency	1	0	0	1
		Unknown steroid synthesis defect	1	1	0	2
		Hypospadias	0	24	1	25
		XY DSD not classified	7	1	0	8
XX DSD	21	XX gonadal dysgenesis	20	0	0	20
	21	XX ovotesticular DSD	1	0	0	1
	226	CAH (21-hydroxylase deficiency)
		Salt-wasting	109	2	0	111
		Simple virilizing	65	1	0	66
		Non-classical	33	1	0	34
		not to classify	3	0	0	3
		Other CAH
		STAR deficiency	1	0	0	1
		3β-HSD deficiency	2	0	0	2
		11β-hydroxylase deficiency	5	1	0	6
		POR deficiency	2	0	0	2
		Unknown	1	0	0	1
	6	46,XX testicular and unknown DSD	0	6	0	6
		Sum	717	311	12	1040

GD gonadal dysgenesis, PAIS partial androgen insensitivity, CAIS complete androgen insensitivity, 3ß-HSD 3β-hydroxysteroid dehydrogenase, 17β-HSD III 17β hydroxysteroid dehydrogenase III, 5α-RD II 5α-reductase II, STAR steroidogenic acute regulatory protein, POR cytochrome P450 oxidoreductase. ^aThe patient with 47,XYY, although not belonging to the Chicago classification, is included, as he displays gonadal dysgenesis as Klinefelter syndrome

ISSN: 1472-6823