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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.

SUBMITTER: Miller BS

PROVIDER: S-EPMC3869397 | biostudies-literature | 2011 May

REPOSITORIES: biostudies-literature

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

Miller Bradley S BS Freeze Hudson H HH Hoffmann Georg F GF Sarafoglou Kyriakie K

Molecular genetics and metabolism 20110203 1

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 ro ...[more]

PMID: 21334936

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