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A 21-year-old male with a rare genetic disorder experienced sudden hair loss and high DHEAS levels, likely due to a condition similar to PCOS, usually seen in women.

Truncating mutations in the C2orf37 gene cause Woodhouse–Sakati syndrome.

A woman was the first known case to have both polycystic ovary syndrome and autoimmune polyglandular syndrome type 2, suggesting a need to check for both conditions in similar patients.

A baby with KID syndrome died from infections and organ failure at 18 months old.

A small change in the TRPS1 gene leads to a less severe form of a syndrome affecting hair, nose, and finger development.

A new mutation in the MBTPS2 gene causes a mild form of IFAP syndrome.

An 80-year-old woman with Cronkhite-Canada syndrome had multiple polyps and symptoms like diarrhea, hair loss, nail issues, and dark skin.

Björnstad syndrome can cause hair loss similar to androgenetic alopecia, and treatment with baricitinib and minoxidil may help.

A patient with Werner syndrome showed a range of aging-like symptoms and metabolic issues, underscoring the need for early detection and treatment.

The gene for Clouston syndrome in a large Indian family is located in the 13q11-q12.1 region.

A woman with Parry-Romberg syndrome developed new curly hair on one side of her scalp, a condition not previously linked to the syndrome.

Dermatologists should consider congenital syndromes like TRPS in young adults with early hair loss.

A family was found with both Trichorhinophalangeal syndrome and Loose Anagen Syndrome, suggesting a genetic connection.

Ectopic adrenal rests can cause androgen excess after adrenalectomy and may need targeted surgery.

Atrichia with papular lesions causes irreversible hair loss from infancy and is often misdiagnosed.

A 13-year-old girl's masculine symptoms improved after surgery for a rare adrenal tumor that produced male hormones.

Precocious puberty can signal familial adenomatous polyposis.

A new mutation in the DCAF17 gene was found in a Chinese family, causing Woodhouse-Sakati syndrome and diabetes.

Mutations in the POC1A gene can cause a unique form of extreme insulin resistance and short stature.

A 39-year-old woman developed uncombable hair syndrome after taking oral contraceptives.

A specific gene variant causes severe skin issues and increases infection risk, requiring careful medical monitoring.

Newborn screening and gene therapy are expected to improve outcomes for Omenn syndrome patients.

Severe genetic variants in children with a specific adrenal condition match predicted symptoms well, but milder variants do not.

The infant likely has Hay-Wells syndrome and needs genetic testing and heart screening.

A 2-year-old girl had a hair disorder not shared by her identical twin.

Alopecia areata may be linked to kidney issues, but more research is needed.

Woolly hair syndrome is a genetic condition causing frizzy, fragile hair.

Arab APS1 patients have unique and recurrent AIRE gene mutations.

A pregnant woman with Werner's syndrome died during childbirth, but her baby survived and did not have the syndrome.