Lipoid Congenital Adrenal Hyperplasia With a Novel StAR Gene Mutation.
- Citation:
- Bakkar, A. A., A. Alsaedi, N. M. Kamal, E. Althobaiti, L. A. Aboulkhair, A. M. Almalki, S. A. Alsalmi, Q. Alharthi, S. A. Abosabie, and S. A. Abosabie, "Lipoid Congenital Adrenal Hyperplasia With a Novel StAR Gene Mutation.", Clinical medicine insights. Endocrinology and diabetes, vol. 16, pp. 11795514231167059, 2023.
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.