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 5 Classification of individuals with 21-OHD (CYP21A2) and other CAH according to genotype

Total	0	A	B	C	No mutation or not classified	Other CAH	Sum
All	55	81	75	30	92	14	347
46,XX	31	44	42	27	70^a	12^b	226
46,XY	24	37	33	3	22^c	2^d	121

This classification includes severity of 21-OHD according to genotype. 21-OHD shows a spectrum ranging from 0 = salt-wasting to C = non-classical when performing genotype-phenotype correlations
^aThese include no mutation (n = 68) and “not classified” (n = 2)
^bThese include STAR defect (n = 1), POR deficiency (POR) (n = 2), 3ß-HSD deficiency (HSD3B2) (n = 2), 11ß-OHD deficiency (CYP11B1) (n = 6) and unknown other (n = 1)
^cThese include only no mutation (n = 22)
^dThese include 11ß-OHD deficiency (CYP11B1) (n = 2)

ISSN: 1472-6823