Table 2. Genotype en phenotype of patients with 45,X/46,XY (or variant) raised male.

Age£	Age Δ££	Karyotype	EMS	Associated features	Cardiovascular
21 y	10 y	45,X/46,X,der(Y)	12	short stature,**	normal
24 y	7 y	45,X/46,X,idic(Y)(q11.21)	12	short stature	bicuspid aortic valve
				cubitus valgus
				short metacarpals
				short metatarsals
				neurocognitive disorder
11 y	10 y	45,X/46,X,idic(Y)(p11.32)	12	short stature	bicuspid aortic valve
				short neck	mildly dilated AoAsc
				shield thorax	prolonged QTc (465 ms)
				short metacarpals	high heart rate (95/min)
				short metatarsals
				Scoliosis
				ADHD
				recurrent otitis
1 y	prenatal	46,X,i(Y) (pter→q11:q11→pter)	12	cleft lip and palate	normal
10 y	1 y	45,X/46,XY	10	short stature	bicuspid aortic valve
				short, webbed neck	dilated AoAsc
				shield thorax	impaired systolic function
				short metacarpals	prolonged QTc (482 ms)
				short metatarsals	high heart rate (94/min)
				recurrent otitis
19 y	1 y	45,X/46,XY	10	short stature,**	right arteria lusoria
3 y	prenatal	45,X/46,X,i(Y)(p10)	10	short stature	bicuspid aortic valve
				multicystic kidney	mildly dilated AoAsc
				recurrent otitis
10 y	neonatal	45,X/46,XY	8	short stature	VSD
				short neck	bicuspid aortic valve
				shield thorax	dilated AoAsc
				short metacarpals	high heart rate (99/min)
				short metatarsals
				horseshoe kidney
5 y	neonatal	arrYq11.223q11.223/XO	6		normal
2 y	neonatal	45,X/46,X,isoYp	5	recurrent otitis	normal

^£age at the moment of examination in years,

^££age at the moment of diagnosis.

^**more clinical data are not available.

AoAsc ascending aorta.

EMS external masculinisation score.