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. 2023 May 26:16:11795514231167059.
doi: 10.1177/11795514231167059. eCollection 2023.

Lipoid Congenital Adrenal Hyperplasia With a Novel StAR Gene Mutation

Ayman A Bakkar  1 , Abdulaziz Alsaedi  1 , Naglaa M Kamal  2 , Enad Althobaiti  1 , Lujain A Aboulkhair  3 , Abdullah M Almalki  1 , Shaima A Alsalmi  1 , Qaydah Alharthi  4 , Sara A Abosabie  5 , Salma As Abosabie  6
Affiliations

Lipoid Congenital Adrenal Hyperplasia With a Novel StAR Gene Mutation

Ayman A Bakkar et al. Clin Med Insights Endocrinol Diabetes. .

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.

Keywords: Lipoid congenital adrenal hyperplasia; StAR gene; novel.

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Conflict of interest statement

The author(s) declared no potential conflicts of interest with respect to the research, authorship, and/or publication of this article.

Figures

Figure 1.
Figure 1.
MRI showed bilateral prominent adrenal glands.
Figure 2.
Figure 2.
Patient’s whole exome sequencing.
See this image and copyright information in PMC

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