Abstract
The pathogenesis of ovarian failure in females with classical galactosemia is incompletely understood, but is likely due to prenatal toxic effects of galactose or its metabolites on the immature ovary. We studied two sisters on dietary galactose restriction since birth who had hypergonadotropic hypogonadism. Serum prolactin and T4 were normal and karyotypes were 46xx. AB, 17 yrs, had adrenarche at 12 yrs, thelarche at 13 yrs and menarche at 14 yrs, followed by irregular periods q 3-6 wks. BB, 16 yrs, had adrenarche at 13 yrs, but no thelarche or menarche. Bone age was 11 yrs. Pelvic U/S showed no ovarian tissue. Both girls had blood withdrawn every 10 min over 12 h (0900-2100) for pulsatile secretion of LH/FSH. BB was studied during two separate cycles: 5 and 22 days after the onset of menstrual flow. In spite of a mean intermenstrual length of 28.5 d (R 18-42 d), studies during a 6 month period in BB (pulsatile LH/FSH, weekly progesterone (P) levels, and basal body temperatures) showed no evidence of ovulation.
These studies show that ovarian failure may be variable in similarly treated siblings. Incomplete follicular maturation most likely explains the serial observations in the least affected sibling.
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Hopwood, N., Sauder, S., Beitins, I. et al. 171 VARIABLE EXPRESSION OF OVARIAN FAILURE IN GALACTOSEMIA. Pediatr Res 19, 632 (1985). https://doi.org/10.1203/00006450-198506000-00191
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DOI: https://doi.org/10.1203/00006450-198506000-00191