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

Bradley S. Miller; Hudson H. Freeze; Georg F. Hoffmann; Kyriakie Sarafoglou

doi:10.1016/j.ymgme.2011.01.016

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

Bradley S. Miller, Hudson H. Freeze, Georg F. Hoffmann, Kyriakie Sarafoglou

Pediatrics - Endocrine and Diabetes

Research output: Contribution to journal › Article › peer-review

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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.

Original language	English (US)
Pages (from-to)	101-103
Number of pages	3
Journal	Molecular Genetics and Metabolism
Volume	103
Issue number	1
DOIs	https://doi.org/10.1016/j.ymgme.2011.01.016
State	Published - May 2011

Bibliographical note

Funding Information:
HHF is funded through the National Institutes of Health ( R01 DK55615 ), The Rocket Williams Fund , and the Sanford Children's Health Research Center Professorship .

Keywords

ALG6
Aromatase
Congenial disorder of glycosylation
Glycosylation
Hormone
Puberty
Inborn errors of metabolism

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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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AU - Hoffmann, Georg F.

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

Abstract

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Keywords

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