Article
Pubertal development in ALG6 deficiency (congenital disorder of glycosylation type Ic).
Molecular genetics and metabolism - 1 May 2011
Miller Bradley S, Freeze Hudson H, Hoffmann Georg F, Sarafoglou Kyriakie
Abstract excerpt
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....
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.