Thirty-eight-year follow-up of two sibling Lipoid Congenital Adrenal Hyperplasia patients due to homozygous Steroidogenic Acute Regulatory (STARD1) protein Mutation. Molecular structure and modeling of the STARD1 L275P mutation.

Thirty-eight-year follow-up of two sibling Lipoid Congenital Adrenal Hyperplasia patients due to homozygous Steroidogenic Acute Regulatory (STARD1) protein Mutation. Molecular structure and modeling of the STARD1 L275P mutation.

Objective: Review the impact of StAR (STARD1) mutations on steroidogenesis and fertility in LCAH patients. Examine the endocrine mechanisms underlying the pathology of the disorder and the appropriate therapy for promoting fertility and pregnancies.Design: Published data in the literature and a deta...

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Bibliographic Details
Main Author: Jean-Guy Lehoux
Format: Article
Language:English
Published: Frontiers Media S.A. 2016-11-01
Series:Frontiers in Neuroscience
Subjects:
Cholesterol
Fertility
Pregnancy
therapy
molecular structure
steroidogenic acute regulatory protein
Online Access:http://journal.frontiersin.org/Journal/10.3389/fnins.2016.00527/full

Internet

http://journal.frontiersin.org/Journal/10.3389/fnins.2016.00527/full

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