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.
Bibliographical noteFunding 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 .
- Congenial disorder of glycosylation
- Inborn errors of metabolism