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Endoscopy-assisted surgery for craniosynostosis showed excellent outcomes with minimal complications and most patients went home the day after surgery.

The patient had complex urinary tract issues and ambiguous genitalia, with physical features suggesting a hormonal imbalance.

MRI can show unusual brain changes in adrenomyeloneuropathy.

Masculinization in affected individuals occurs gradually after puberty due to hormone changes.

Doctors often diagnose Cushing's syndrome late, which worsens symptoms; earlier detection is needed.

Biotin treatment improves symptoms of biotinidase deficiency, but some neurological damage may be permanent.

Acitretin effectively prevented skin cancer in a patient with late-onset Rothmund-Thomson syndrome.

A woman's hyperandrogenism was caused by a genetic mutation leading to non-classic adrenogenital syndrome.

The twins' condition is unique and doesn't match any known syndromes.

Certain medications can cause serious side effects, including skin reactions, stroke, muscle disorders, tongue swelling, hair loss in women, and liver failure.

A rare, harmless skin tumor was found on a man's nose.

Hair-shaft abnormalities can indicate neurological disorders, some of which are treatable.

A new gene variant in a girl with Coffin-Lowry Syndrome may link the condition to early puberty.

The AR gene is linked to male-pattern baldness, TNFSF4 to heart disease, SLC19A3 to BBGD, MCT8 to a syndrome, and segmental duplications to genetic variation.

Gonadal dysgenesis, like Turner's and Klinefelter's syndromes, negatively affects bone health, but hormone treatments can help.

A rare ovarian tumor that produced testosterone caused a blood clot in the lungs and increased red blood cells in a woman.

Non-classic congenital adrenal hyperplasia (NCCAH) can mimic PCOS and requires genetic testing for proper diagnosis and treatment.

Localized dystrophic epidermolysis bullosa (DEB) can lead to scarring alopecia, highlighting the need to recognize and address this complication.

A girl with Netherton syndrome was able to eat wheat without allergies after a special treatment.

Patients with Shwachman-Diamond syndrome often get misdiagnosed due to a wide range of symptoms, including immune system problems and bone abnormalities.

Early diagnosis of pseudopelade of Brocq in men is crucial to prevent permanent hair loss.

The girl had a rare disorder causing mental and physical symptoms, with weak hair and unclear neurological issues.

A rare ovarian tumor in a 2-year-old girl was successfully removed, normalizing her hormone levels.

Untreated Sheehan's Syndrome caused severe heart failure in a woman, which improved with hormone and heart failure treatment.

A Thai boy was diagnosed with a rare hair disorder causing hair thinning and shedding.

A woman with myotonic dystrophy had multiple skin tumors on her scalp, suggesting a genetic link.

Ellis van Creveld syndrome, a rare genetic disorder, can cause unexpected abnormalities in various body organs, requiring thorough patient evaluations.

An elderly Chinese man lost all his hair after taking a new heart medication.

Men with early-onset hair loss have less cardiometabolic benefit from bromocriptine.

A 4-year-old girl had a rare hair disorder affecting only part of her scalp.