Table 1.

Patient data for genotype and timing of POI.

Patient no.	Genotype	Spontaneous menses	Time of amenorrhea	Hormone replacement therapy	Anti-Müllerian hormone (AMH)	Ovary images
1	Q188R/Q212X	Prepubertal	Prepubertal	Not indicated at this time	Low at 7 months and age 4	N/A
2	Q188R/Q188R	Yes	~16 years	Yes, periods stopped when hormones stopped	Low at age 28	N/A
3	S135L/IVS2-2G	Prepubertal	Prepubertal	Not indicated at this time	Low at ages 5–11	N/A
4	Q188R/R258C	Yes	None, regular periods	No	Normal range at age 16	N/A
5	Q188R/Q188R	Yes	~16 years	Yes, periods stopped when hormones stopped	Low at age 25	N/A
6	Q188R/unknown	Yes	21 years	Birth control as contraception	Low at ages 18–27	Yes; smaller than postmenopausal volume at age 27
7	Q188R/Q188R	Yes	None, regular periods	Yes, periods regular on birth control	Low at ages 18–22	N/A
8	Q188R/E203K	Yes	Unknown	No	High at ages 9–13	N/A
9	Q188R/Q188R	Yes	~16 years	Unknown	N/A	N/A
10	R201H/M336L	Yes	Unknown	Unknown	N/A	N/A
11	Q188R/Q188R	Yes	No	Birth control as a contraceptive	N/A	Yes; scan for second pregnancy at > 30 years of age showed no visible ovaries