Table 1.

ZNRF3 variants detected by exome sequencing of DSD patients

Variable	Patient 1	Patient 2	Patient 3	Patient 4	Patient 5
Ancestry	Tunisian	North African	Indian	Indian	North African
Karyotype	46,XY	46,XY	46,XY	46,XY	46,XY
Age at presentation	17 y	16 y	19 y	17 y	Birth
External genitalia	Female	Female	Female	Female	Perineal hypospadias
Internal genitalia	Hypoplastic uterus	Uterus present	Absent uterus	Absent uterus	Male
Gonads	Not seen by US	“streak” gonad	Not seen by US	Not seen by US	Intrascrotal testis
Endocrine data (reference values)	T, 0.13 ng/mL (2.7 to 9); FSH, 132 U/L (ND to 13.5); LH, 35.9 U/L (2.4 to 13)	T, 0.2 ng/mL (2.7 to 9); FSH, 37 U/L (ND to 13.5); LH, 42 U/L (2.4 to 13)	NA	NA	3 mo: T, 0.96 ng/mL (0.75 to 4.0); FSH < 0.4 U/L (ND to 13.5); AMH AMH 1,305 pmol/l (100–3,300)
ZNRF3 mutation	Splice site exon8:c.2767+5G > A	c.1661G > A p.Ser554Asn	c.2302A > G p.Arg768Gly	c.2302A > G p.Arg768Gly	c.1861T > G p.Arg621Ser
Allele Freq (ExAC) and Population	Novel	Novel	0.00487 South Asian	0.00487 South Asian	0.00003258 European
Diagnosis	Suspected 46,XY gonadal dysgenesis	46,XY Complete gonadal dysgenesis	46,XY DSD	46,XY DSD	46,XY DSD

Normal range refers to the range of basal levels in control subjects matched according to age and chromosomal sex with the case subjects. AMH, anti-Müllerian hormone; FSH, follicle stimulating hormone; LH, luteinizing hormone; NA, not available; ND, not detectable; T, testosterone; US, ultrasound.