Search

everythinglearnresearchcommunity

for

Search:↓

A woman was diagnosed with a rare adrenal gland cancer that did not show usual hormone-related symptoms.

Rathke’s cleft cysts can rarely cause Cushing disease, and surgery can improve symptoms.

The patient likely has Chrousos syndrome, a rare condition causing insensitivity to glucocorticoids, requiring high-dose dexamethasone treatment.

Children with classic congenital adrenal hyperplasia have thicker heart fat and are at higher risk for heart problems and early atherosclerosis.

People with anhidrotic ectodermal dysplasia may get severe bronchitis if exposed to dust.

Dihydrotestosterone (DHT) worsens heart enlargement, and blocking it may help prevent heart issues.

"D-CHRAMPS syndrome" is a newly identified condition with multiple severe symptoms.

KID syndrome should be reclassified as an ectodermal dysplasia.

SCAD can indicate ANA-negative lupus, especially in women with unusual symptoms.

A deletion in the CDH3 gene causes a rare disorder with short hair and vision loss.

Children with classic congenital adrenal hyperplasia have thicker heart fat and more heart and blood vessel risk factors, especially if their condition is not well-controlled.

A new DSG4 gene mutation causes hair defects in a young girl.

RCVS should be considered in thunderclap headaches, and MRA and DSA are better for diagnosis than CT angiogram.

A 13-year-old with 46 XY DSD had ambiguous genitalia due to incomplete masculinization.

Understanding genetics is crucial for treating heart and skin diseases.

Androgens may increase arrhythmias in Brugada Syndrome, while Finasteride could reduce them.

Orbital decompression surgery for Graves' orbitopathy caused double vision in 19% of patients, with similar rates for two surgical methods.

A patient with Myotonic dystrophy type 1 had multiple tongue hemangiomas and was sensitive to anesthesia.

The study found a unique vein pattern around the aorta and two arteries in the right kidney.

Early recognition and multidisciplinary management of Whitaker syndrome can improve patient outcomes.

A gene mutation in mice causes increased mast cells and disorganized hair follicles in their skin.

A 2-year-old boy was diagnosed with a rare genetic condition causing fragile hair, intellectual issues, and short stature.

GERD symptoms are linked to acid exposure time and daytime sleepiness, influenced by ghrelin levels.

An infant with Hutchinson-Gilford Progeria Syndrome had successful surgery to fix breathing issues caused by a new genetic mutation.

Consider rare forms of CAH for accurate diagnosis and treatment.

A cat in Turkey had Ehlers-Danlos syndrome, showing very stretchy skin and easy bruising.

A new EDA gene variant causes X-linked hypohidrotic ectodermal dysplasia in a Chinese family.

A new genetic mutation was found causing hair and eye issues in a boy.

Danon disease can be hard to diagnose due to non-specific symptoms.