Table 2.

Phenotype of Women with POF Carrying FIGLA Mutations

Patient	Variant	Age∗ (yrs)	Karyotype	FSH (IU/L)	LH (IU/L)	E2 (pg/ml)	Additional Information
S8	p.Ala4Glu	22	46,XX	70.0a; 78.5b	19.5a; 24.7b	44.2a; 31.8b	Perimenopausal syndrome; TV-B: Streak left ovary; right ovary not visualized
S13	p.G6fsX66	36	46,XX	48.1a; 50.6b	32.1a; 11.5b	28.0a; 22.0b	Perimenopausal syndrome; TV-B: Ovaries not visualized
S58	p.Ala4Glu	32	46,XX	95.7a; 135.7b	42.9a; 47.1b	42.0a; 27.3b	TV-B: Small uterus and bilateral streak ovaries
S69	p.140 delAsn	27	46,XX	70.4a; 89.6b	28.8a; 45.2b	17.0a; 11.2b	TV-B: Small uterus and small right ovary devoid of follicles; left ovary not visualized

FIGLA denotes factor in the germline alpha; FSH denotes follicle-stimulating hormone; LH denotes luteinizing hormone; E₂ denotes estradiol; TV-B denotes Transvaginal ultrasonography.

^∗Age at exposure.

^aSerum levels; initial value.

^bSerum levels; repeat value.