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Updated: Jun 4, 2026

Determining Bile Duct Density in the Mouse Liver
Published on: April 30, 2019
Pubertal development in ALG6 deficiency (congenital disorder of glycosylation type Ic)
Bradley S Miller1, Hudson H Freeze, Georg F Hoffmann
1The Division of Endocrinology, Department of Pediatrics, University of Minnesota Amplatz Children's Hospital, Minneapolis, MN 55455, USA. mille685@umn.edu
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.
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