Lipoid Congenital Adrenal Hyperplasia With a Novel StAR Gene Mutation.

Ayman A BakkarAbdulaziz AlsaediNaglaa M KamalEnad AlthobaitiLujain A AboulkhairAbdullah M AlmalkiShaima A AlsalmiQaydah AlharthiSara A AbosabieSalma As Abosabie

Published in: Clinical medicine insights. Endocrinology and diabetes (2023)

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.

Keyphrases

liver failure
transcription factor
copy number
genome wide
respiratory failure
protein protein
aortic dissection
drug induced
gene expression
mechanical ventilation