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

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

Research output: Contribution to journalArticlepeer-review

20 Scopus citations


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 languageEnglish (US)
Pages (from-to)101-103
Number of pages3
JournalMolecular Genetics and Metabolism
Issue number1
StatePublished - 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 .


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


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