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Mol Genet Metab. 2011 May;103(1):101-3. doi: 10.1016/j.ymgme.2011.01.016. Epub 2011 Feb 3.

Pubertal development in ALG6 deficiency (congenital disorder of glycosylation type Ic).

Author information

1
The 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.

PMID:
21334936
PMCID:
PMC3869397
DOI:
10.1016/j.ymgme.2011.01.016
[Indexed for MEDLINE]
Free PMC Article
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