Search

everythingexperts & clinicslearnresearchcommunity

for

Search:↓

A woman with a unique syndrome similar to TRPS has a genetic change near the TRPS1 gene, affecting its regulation.

A man with KID syndrome developed a rare cancer in a long-term skin infection.

A woman's small ovarian tumor causing high androgen levels was missed by several scans but found during surgery.

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

A rare case of Cushing's syndrome and pheochromocytoma requires careful re-evaluation to avoid complications.

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

A person with Werner syndrome was initially thought to just have female pattern hair loss.

Congenital adrenal hyperplasia may be linked to adrenal myelolipoma.

Rare seminoma found in a 33-year-old woman with atypical genitalia and no Y chromosome.

A six-year-old boy with excessive hair growth and other symptoms may have a genetic link on chromosome 17q, requiring regular medical follow-ups.

Evaluate prolactin levels with androgen and thyroid tests to rule out endocrine issues in patients with SAHA syndrome symptoms.

A 36-year-old woman with low potassium levels was found to have Cushing disease, and after treatment, her potassium levels normalized.

Variants in the CCDC47 gene are linked to trichohepatoneurodevelopmental syndrome.

The study found that males with KFSD had severe skin and eye symptoms, while female carriers had milder symptoms.

Two new mutations in the CDH3 gene cause hair loss and vision problems in a young girl.

MRI can show unusual brain changes in adrenomyeloneuropathy.

A young boy's uncombable hair is due to a rare genetic condition that usually improves over time.

Digital access to medical info can help identify rare conditions.

A mutation in the KRT25 gene causes woolly hair and hair loss.

A pregnant woman with Cushing Syndrome got worse and sadly passed away.

Two new mutations in the AR gene linked to severe androgen insensitivity were found.

VHL disease can cause early paragangliomas, needing lifelong monitoring.

A mutation in the KRTHB5 gene causes hair and nail issues.

A 72-year-old man with sudden taste issues and hair growth was diagnosed with a severe stomach cancer and died within 5 months.

Woodhouse-Sakati Syndrome can include unique symptoms like liver issues and low growth hormone.

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

The man's diarrhea was caused by a rare disorder called Cronkhite-Canada syndrome, which improved with specific medications.

Airway issues can occur in Conradi–Hünermann–Happle syndrome and can be managed with minimally invasive procedures.

A woman's excessive hair growth was linked to a rare case of high testosterone caused by a prolactin-producing pituitary tumor.

A patient with Cronkhite-Canada Syndrome developed colon cancer that spread to the liver, showing the need for regular cancer checks in such patients.