Lipoid Congenital Adrenal Hyperplasia With a Novel StAR Gene Mutation-Reference-Cited by-同舟云学术

Lipoid Congenital Adrenal Hyperplasia With a Novel StAR Gene Mutation

Published:2023-01 Issue: Volume:16 Page:117955142311670
ISSN:1179-5514
Container-title:Clinical Medicine Insights: Endocrinology and Diabetes
language:en
Short-container-title:Clin Med Insights Endocrinol Diabetes

Author:

Bakkar Ayman A¹,Alsaedi Abdulaziz¹,Kamal Naglaa M²^ORCID,Althobaiti Enad¹,Aboulkhair Lujain A³,Almalki Abdullah M¹,Alsalmi Shaima A¹,Alharthi Qaydah⁴,Abosabie Sara A⁵,Abosabie Salma AS⁶

Affiliation:

1. Alhada Armed Forces Hospital, Taif, Saudi Arabia

2. Kasr Alainy Faculty of Medicine, Cairo University, Cairo, Egypt

3. Ministry of Health, Madinah, Saudi Arabia

4. Ministry of Health, Taif, Saudi Arabia

5. Faculty of Medicine, Charité – Universitätsmedizin Berlin, Berlin, Germany

6. Faculty of Medicine, Julius-Maximilians-Universität Würzburg, Bavaria, Germany

Abstract

Lipoid congenital adrenal hyperplasia (LCAH) is characterized by disturbance of adrenal and gonadal steroidogenesis (OMIM:201710). It is caused by mutation in the Steroidogenic Acute Regulatory Protein (StAR). We report a classic case of LCAH in a neonate (46, XY) with phenotypic female genitalia who presented with significant salt loss with a novel homozygous variant mutation c.745-1G>C p. in StAR gene.

Publisher

SAGE Publications

Subject

General Medicine

Link

http://journals.sagepub.com/doi/pdf/10.1177/11795514231167059

Reference20 articles.

1. Congenital lipoid adrenal hyperplasia: the human gene knockout for the steroidogenic acute regulatory protein

2. CONGENITAL ADRENAL HYPERPLASIA DUE TO DEFICIENT CHOLESTEROL SIDE-CHAIN CLEAVAGE ACTIVITY (20, 22-DESMOLASE) IN A PATIENT TREATED FOR 18 YEARS

3. Role of Steroidogenic Acute Regulatory Protein in Adrenal and Gonadal Steroidogenesis

4. The Pathophysiology and Genetics of Congenital Lipoid Adrenal Hyperplasia

5. 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

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