Ovarian function in girls and women with GALT-deficiency galactosemia.
Primary or premature ovarian insufficiency (POI) is the most common long-term complication experienced by girls and women with classic galactosemia; more than 80% and perhaps more than 90% are affected despite neonatal diagnosis and careful lifelong dietary restriction of galactose. In this review we explore the complexities of timing and detection of galactosemia-associated POI and discuss potential underlying mechanisms. Finally, we offer recommendations for follow-up care with current options for intervention.
Fridovich-Keil
Judith L
JL
Department of Human Genetics, Emory University School of Medicine, Atlanta, GA, USA. jfridov@emory.edu
Gubbels
Cynthia S
CS
Spencer
Jessica B
JB
Sanders
Rebecca D
RD
Land
Jolande A
JA
Rubio-Gozalbo
Estela
E
D000293:Adolescent; D000328:Adult; D000818:Animals; D002648:Child; D044127:Epigenesis, Genetic; D004926:Escherichia coli / Q000378:metabolism; D005260:Female; D005640:Follicle Stimulating Hormone / Q000378:metabolism; D005690:Galactose / Q000378:metabolism; D005693:Galactosemias / Q000175:diagnosis* / Q000235:genetics*; D006801:Humans; D010053:Ovary / Q000473:pathology; D016649:Primary Ovarian Insufficiency / Q000235:genetics; D011627:Puberty; D018805:Sepsis / Q000235:genetics
D005640:Follicle Stimulating Hormone; D005690:Galactose