Related Experiment Video
Updated: Jul 19, 2026

Establishment of Zone-Enriched Primary Cultures from the Mouse Adrenal Cortex
Published on: May 8, 2026
Congenital lipoid adrenal hyperplasia caused by a frame-shift mutation in the steroidogenic acute regulatory protein
Anastasios Papadimitriou1, Ioanna Fountzoula, Georgia Tzortzatou
1Endocrine Clinic, First Department of Pediatrics, Penteli Children's Hospital, Athens 152 36, Greece. lix@ath.forthnet.gr
Abstract:
We present a female patient who, at the age of 35 days, presented with adrenal insufficiency with salt loss. Clinical and endocrinological investigation (low to normal levels of all adrenal steroids and raised ACTH) and imaging studies suggested congenital lipoid adrenal hyperplasia. The diagnosis was confirmed by molecular analysis that showed a frame-shift mutation 947/InsA/948 in exon 7 of the steroidogenic acute regulatory protein (StAR) gene. The patient is thriving under glucocorticoid and mineralocorticoid replacement therapy. She is now 10.5 years old and has not presented any signs of puberty.
Related Concept Videos
Adrenal Gland Disorders
Adrenal insufficiency, characterized by insufficient cortisol and aldosterone production, leads to conditions like Addison's disease. This disorder, affecting the adrenal cortex, exhibits symptoms such as skin bronzing, dehydration, low blood pressure, fatigue, and weight loss. Congenital adrenal hyperplasia, a genetic ailment causing...
Cushing Syndrome II: Pathophysiology
Cushing Syndrome I: Introduction
Alternative RNA Splicing
There are five types of alternative RNA splicing that vary in the ways the pre-mRNA segments are removed or retained in the mature mRNA. The first...
Regulation of Nuclear Protein Sorting
Smooth Endoplasmic Reticulum
The ER provides optimal conditions for synthesizing steroid hormones and lipids, such as phospholipids and triglycerides. Traditionally, lipid metabolism was considered to be a smooth ER function. However, there is no direct evidence to prove that rough ER is completely excluded from lipid...