Table 2.

Characteristics of the four patients with successful pregnancies.

Patient (DOB)x	1 (09/1992)	2 (02/1987)	3 (07/1976)	4 (11/1962)
Mutation GAL 1-P (under diet)	Q188R/Q188R 3 mg/100 mL	Q188R/other 0.1 mg/100 mL	NA (classical form) NA	NA 1.7 mg/100 mL
Adherence to diet	Yes	Yes	Yes	Yes
Puberty Menstrual cycles	Spontaneous Short (15 days)	Spontaneous NA	Spontaneous Secondary amenorrhea at age 26 years old	Spontaneous Secondary amenorrhea at age 41 years old
Age at testing	19 years old	25 years old	36 years old	NA
AMH, ng/mL (normal 14-48)	0.3	–	<0.4	NA
FSH, IU/L (normal <20)	6	5.5	41.3	NA
Estradiol, pg/mL (normal 100–1400)	45	27	<17	NA
Ultrasound	RO 23·13 mm LO 19 mm Scarce follicles	RO several follicles	RO 28·20 mm 4 follicles LO 19·13 mm 3 follicles	NA
Pregnancy
Spontaneous	2	2	1	1
Stimulation	0	0	2	0
Miscarriage	1 (6 weeks)	0	0	0
Ovarian cryopreservation	No	Yes, at age 13 years old	No	No
Age at delivery	22 years old	19 years old/22 years old	27 years old/32 years old/33 years old	24 years old
Time to pregnancy	4 months	6 months	3 months	2 years

DOB, date of birth; Gal 1-P, galactose 1-phosphate level in erythrocytes; LO, left ovary; NA, not available; RO, right ovary.