Presentation, progression, and predictors of ovarian insufficiency in classic galactosemia.

ABSTRACT: Classic galactosemia (CG) is an inherited metabolic disorder that affects about 1 in 50,000 live births in the United States and many other countries. With the benefit of early detection by newborn screening and rapid dietary restriction of galactose, generally achieved by removing dairy from the diet, most affected infants are spared the acute and potentially lethal symptoms of disease. Despite early detection and life-long dietary intervention, however, most patients grow to experience a constellation of long-term complications that include premature ovarian insufficiency in the vast majority of girls and young women. Our goal in the study reported here was to define the presentation, progression, and predictors of ovarian insufficiency in a cohort of 102 post-pubertal girls and women wi

SUBMITTER: Frederick AB 

PROVIDER: S-EPMC6128750 | biostudies-literature | 2018 Sep

REPOSITORIES: biostudies-literature