title: FSH isoform pattern in classic galactosemia.
abstract: Female classic galactosemia patients suffer from primary ovarian insufficiency (POI). The cause for this long-term complication is not fully understood. One of the proposed mechanisms is that hypoglycosylation of complex molecules, a known secondary phenomenon of galactosemia, leads to FSH dysfunction. An earlier study showed less acidic isoforms of FSH in serum samples of two classic galactosemia patients compared to controls, indicating hypoglycosylation. In this study, FSH isoform patterns of five classic galactosemia patients with POI were compared to the pattern obtained in two patients with a primary glycosylation disorder (phosphomannomutase-2-deficient congenital disorders of glycosylation, PMM2-CDG) and POI, and in five postmenopausal women as controls. We used FPLC chromatofocussing with measurement of FSH concentration per fraction, and discovered that there were no significant differences between galactosemia patients, PMM2-CDG patients and postmenopausal controls. Our results do not support that FSH dysfunction due to a less acidic isoform pattern because of hypoglycosylation is a key mechanism of POI in this disease.
authors.affiliation: Department of Pediatrics, Maastricht University Medical Center, Maastricht, The Netherlands.
authors.forename: Cynthia S
authors.initials: CS
authors.lastname: Gubbels
authors.forename: Chris M G
authors.initials: CM
authors.lastname: Thomas
authors.forename: Will K W H
authors.initials: WK
authors.lastname: Wodzig
authors.forename: André J
authors.initials: AJ
authors.lastname: Olthaar
authors.forename: Jaak
authors.initials: J
authors.lastname: Jaeken
authors.forename: Fred C G J
authors.initials: FC
authors.lastname: Sweep
authors.forename: M Estela
authors.initials: ME
authors.lastname: Rubio-Gozalbo
mesh_terms: D000368:Aged; D016022:Case-Control Studies; D002845:Chromatography / Q000379:methods; D005260:Female; D005640:Follicle Stimulating Hormone / Q000097:blood* / Q000737:chemistry*; D005693:Galactosemias / Q000097:blood* / Q000150:complications; D006031:Glycosylation; D006801:Humans; D006863:Hydrogen-Ion Concentration; D008875:Middle Aged; D017698:Postmenopause; D016649:Primary Ovarian Insufficiency / Q000097:blood / Q000150:complications; D020033:Protein Isoforms
chemical_list: D020033:Protein Isoforms; D005640:Follicle Stimulating Hormone
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