Screening of Y chromosome microdeletions in 46,XY partial gonadal dysgenesis and in patients with a 45,X/46,XY karyotype or its variants

Table 1 Clinical data from 15 patients with 46,XY partial gonadal dysgenesis

Case	Sex assignment	Current age (years)	Age at first *visit*(months)	Urethral meatus	Vaginal introitus	Right gonad (site,type)	Left gonad (site, type)
1	M	14	0.5	PS	-	LS, DT	LS, S
2	M	20	8	SCR	-	LS, DT	LS, DT
3	F	4	2.5	Normal male	-	AB, DT	I, DT
4	F	16	0.2	SCR	-	AB, DT	AB, S
5	M	9	0.7	Norrnal male	-	I,NB¹	I, NB¹
6	M	25	4	SCR	-	LS, DT	LS, DT
7	F	19	204	SCR	-	AB, DT	AB, DT
8	M	15	8	Normal male	-	AB, S	AB, DT
9	M	23	1.7	PS	-	LS, NB	I, DT
10	M	2.5	25	PS	-	LS, T	AB, S
11	M	17	6	PS	-	I, S	I, DT
12	M	4	6	SCR	-	LS, T	AB, DT
13	M	12	144	PS	-	LS, DT	LS, DT

- absent, + present, AB abdominal, DT dysgenetic testis, F female, I inguinal, LS labioscrotal, M male, NB not biopsied, PER perineal, PS penoscrotal, S streak, SCR scrotal, T testis.
¹High FSH levels in the first months of life and infancy.

ISSN: 1471-2350