Pubertal development in ALG6 deficiency (congenital disorder of glycosylation type Ic).
Mol Genet Metab
; 103(1): 101-3, 2011 May.
Article
in En
| MEDLINE
| ID: mdl-21334936
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.
Full text:
1
Database:
MEDLINE
Main subject:
Puberty
/
Congenital Disorders of Glycosylation
/
Glucosyltransferases
/
Membrane Proteins
Type of study:
Diagnostic_studies
Limits:
Adolescent
/
Female
/
Humans
Language:
En
Year:
2011
Type:
Article