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Clin Med Insights Endocrinol Diabetes
; 16: 11795514231167059, 2023.
Article
in English
| MEDLINE
| ID: mdl-37255966
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.