Related Experiment Video
Updated: Feb 6, 2026

Clinical Examination Protocol to Detect Atypical and Classical Scrapie in Sheep
Published on: January 19, 2014
[Non-classic lipoid adrenal hyperplasia: clinical cases report]
I G Sichinava1, E S Demina2, E M Sharibzhanova3
1Pirogov Russian National Research Medical University.
None:
Lipoid adrenal hyperplasia (LAH) is a rare severe form of congenital adrenal hyperplasia, which is caused by mutations in the STAR gene (8p11.2), encoding the transport protein StAR. The defect of the StAR protein leads to a total disruption of adrenal and gonadal steroidogenesis. The division into the classic form of the disease, in which all steroidogenesis is disrupted, and the non-classic, in which only adrenal steroidogenesis is usually disrupted, is a generally accepted classification of LAH. We report two cases of patients with clinical and laboratory data indicating a non-classic LAH. Both patients with 46,XY karyotype presented late (at 5 and 3 years) manifestation of clinical symptoms and had normal male external genitalia. Homozygous mutation p.R188C in one patient and compound heterozygous mutations p.R188C and p.R272H in the other were identified by molecular genetic assay. STAR genetic testing allowed to diagnose non-classic LAH in differential diagnosis of hypocorticism.
Related Concept Videos
Classical Conditioning
Ivan Pavlov observed that dogs...
Anatomy of the Adrenal Glands
These glands possess a distinctive yellow tinge due to the stored cholesterol and fatty acids required for hormone synthesis. They are encased in a fibrous capsule and cushioned by fat.
The adrenal gland comprises two distinct...
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...
Hormones of the Adrenal Glands
The adrenal cortex, a powerhouse of hormone synthesis, generates over two dozen corticosteroid hormones. The zona glomerulosa produces mineralocorticoids, exemplified by aldosterone, influencing the electrolyte composition of body fluids. The synthesis of glucocorticoids such as cortisol and...
Principles of Classical Conditioning
During the...
Classical Conditioning in Daily Life
John B. Watson and Rosalie Rayner famously demonstrated the development of fear through classical conditioning in their experiment with Little Albert. They paired the...

