Lipoid Congenital Adrenal Hyperplasia With a Novel StAR Gene Mutation

Ayman A Bakkar; Abdulaziz Alsaedi; Naglaa M Kamal; Enad Althobaiti; Lujain A Aboulkhair; Abdullah M Almalki; Shaima A Alsalmi; Qaydah Alharthi; Sara A Abosabie; Salma As Abosabie

doi:10.1177/11795514231167059

Lipoid Congenital Adrenal Hyperplasia With a Novel StAR Gene Mutation

Clin Med Insights Endocrinol Diabetes. 2023 May 26:16:11795514231167059. doi: 10.1177/11795514231167059. eCollection 2023.

Affiliations

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.

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