Non-classical lipoid adrenal hyperplasia presenting as hypoglycemic seizures
Author:
Affiliation:
1. Department of Pediatric Neurosciences, Surya Hospitals, Jaipur, India
2. Department of Pediatric Endocrinology, Surya Hospitals, Jaipur, India
3. Department of Pediatric Intensive Care, Surya Hospitals, Jaipur, India
Abstract
Publisher
Walter de Gruyter GmbH
Subject
Endocrinology,Endocrinology, Diabetes and Metabolism,Pediatrics, Perinatology and Child Health
Link
https://www.degruyter.com/document/doi/10.1515/jpem-2020-0211/pdf
Reference24 articles.
1. Nonclassic congenital lipoid adrenal hyperplasia: a new disorder of the steroidogenic acute regulatory protein with very late presentation and normal male genitalia;J Clin Endocrinol Metabol,2006
2. 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;Front Neurosci-Switz,2016
3. Spontaneous feminization in a 46, XX female patient with congenital lipoid adrenal hyperplasia due to a homozygous frameshift mutation in the steroidogenic acute regulatory protein;J Clin Endocrinol Metab,1997
4. Clinical, genetic, and functional characterization of four patients carrying partial loss-of-function mutations in the steroidogenic acute regulatory protein (StAR);J Clin Endocrinol Metab,2010
5. Disorders in the initial steps of steroid hormone synthesis;J Steroid Biochem Mol Biol,2017
Cited by 2 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献
1. Steroidogenic acute regulatory protein (STAR) deficiency: Our experience and systematic review for phenotype–genotype correlation;Clinical Endocrinology;2024-02-18
2. Clinical and functional analyses of the novel STAR c.558C>A in a patient with classic lipoid congenital adrenal hyperplasia;Frontiers in Genetics;2023-01-17
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