{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,4]],"date-time":"2025-11-04T23:02:14Z","timestamp":1762297334783},"reference-count":72,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2008,7,25]],"date-time":"2008-07-25T00:00:00Z","timestamp":1216944000000},"content-version":"vor","delay-in-days":54,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Annals of the New York Academy of Sciences"],"published-print":{"date-parts":[[2008,6]]},"abstract":"<jats:p>Hereditary galactosemia is a biochemical genetic disease due to a deficiency of galactose\u20101\u2010phosphate uridyltransferase (GALT) enzyme activity (OMIM 606999). Acute manifestations occur in the neonatal period and are, with rare exceptions, related to lactose ingestion. They include poor feeding and growth, emesis, jaundice, liver disease, bleeding diathesis, anemia, renal tubulopathy, cataracts, encephalopathy and death from <jats:italic>E. coli<\/jats:italic> sepsis. Chronic manifestations, which also develop in prospectively treated patients, involve (<jats:italic>a<\/jats:italic>) the brain, resulting in delayed language acquisition, speech defects, and learning problems, and (<jats:italic>b<\/jats:italic>) the ovary, in the majority of females, producing hypergonadotropic hypogonadism. The serum FSH level is elevated in infancy\/early childhood in many, but not all patients with a severe phenotype. There are few reports of patients with classic galactosemia having undergone pregnancy, labor, and delivery. The pathologic findings in the ovary, including a persistence of primordial follicles and streak gonads, have been variable. The etiology of primary ovarian insufficiency (POI) in galactosemia is unknown. Clinical surveillance includes screening for abnormalities in ovarian function at an early age. Treatment consists of estrogen\/progesterone supplementation at the appropriate age. Reduced BMD has been reported. Future research is needed (1) to delineate the mechanisms behind reduced ovarian function in these young women; (2) to determine the timing of the lesion: prenatal, postnatal, and both pre\u2010 and postnatal; (3) to determine whether elevated galactose\u20101\u2010phosphate is both necessary and sufficient to induce primary ovarian insufficiency; and (4) to understand the mechanism(s) behind the reduced BMD seen in children and adolescents with galactosemia.<\/jats:p>","DOI":"10.1196\/annals.1429.038","type":"journal-article","created":{"date-parts":[[2008,6,23]],"date-time":"2008-06-23T22:08:18Z","timestamp":1214258898000},"page":"112-117","source":"Crossref","is-referenced-by-count":36,"title":["<i>Galactosemia and Amenorrhea in the Adolescent<\/i>"],"prefix":"10.1111","volume":"1135","author":[{"given":"Gerard T.","family":"Berry","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2008,7,25]]},"reference":[{"key":"e_1_2_10_2_2","volume-title":"Online Metabolic and Molecular Bases of Inherited Disease\u2010 OMMBID","author":"Fridovich\u2010Keil J."},{"key":"e_1_2_10_3_2","volume-title":"Inborn Metabolic Diseases \u2013 Diagnosis and Treatment","author":"Berry G.T.","year":"2006"},{"key":"e_1_2_10_4_2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM198104233041702"},{"key":"e_1_2_10_5_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2265.2007.03073.x"},{"key":"e_1_2_10_6_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(79)90658-5"},{"key":"e_1_2_10_7_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(79)92598-4"},{"key":"e_1_2_10_8_2","first-page":"1021","article-title":"Ovarian failure in galactosemia","volume":"2","author":"Hoefnagel D.","year":"1979","journal-title":"Lancet"},{"key":"e_1_2_10_9_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(81)90763-7"},{"key":"e_1_2_10_10_2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM198108203050819"},{"key":"e_1_2_10_11_2","first-page":"321","article-title":"Ovarian insufficiency and galactosemia","volume":"39","author":"Dessart Y.","year":"1982","journal-title":"Arch. 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