title: Pubertal development in ALG6 deficiency (congenital disorder of glycosylation type Ic).
abstract: Information on the hypothalamic pituitary ovarian axis in congenital disorders of glycosylation (CDG) females is scarce. Varying hormonal profiles and degrees of virilization in CDG females suggest a spectrum of yet unidentified mechanisms affected by impaired N-glycosylation. We describe an ALG6D woman who completed puberty with normal gonadotropins and testosterone levels, no virilization, and regular menses. Hormonal follow-up of CDG females is necessary to improve our understanding of the role of glycosylation in pubertal development.
authors.affiliation: The Division of Endocrinology, Department of Pediatrics, University of Minnesota Amplatz Children's Hospital, Minneapolis, MN 55455, USA. mille685@umn.edu
authors.forename: Bradley S
authors.initials: BS
authors.lastname: Miller
authors.forename: Hudson H
authors.initials: HH
authors.lastname: Freeze
authors.forename: Georg F
authors.initials: GF
authors.lastname: Hoffmann
authors.forename: Kyriakie
authors.initials: K
authors.lastname: Sarafoglou
mesh_terms: D000293:Adolescent; D018981:Congenital Disorders of Glycosylation / Q000175:diagnosis / Q000201:enzymology* / Q000235:genetics; D005260:Female; D005964:Glucosyltransferases / Q000172:deficiency* / Q000235:genetics; D006720:Homozygote; D006801:Humans; D008565:Membrane Proteins / Q000172:deficiency* / Q000235:genetics; D009154:Mutation / Q000235:genetics; D011627:Puberty / Q000235:genetics / Q000378:metabolism*
chemical_list: D008565:Membrane Proteins; C498467:ALG6 protein, human; D005964:Glucosyltransferases