Search

everythinglearnresearchcommunity

for

Search:↓

Taking thyroid medication reduced the patient's pituitary gland swelling and improved her symptoms.

The boy's severe skin disorder is caused by two new mutations in his TGM1 gene.

A rare endocrine disorder, APS 1, was diagnosed in a 26-year-old man in Bangladesh.

Netherton syndrome is a genetic skin disorder causing severe skin issues and requires careful treatment to protect the skin barrier.

Chrousos Syndrome is caused by mutations that make the body less sensitive to glucocorticoids, leading to various symptoms and requiring high-dose treatment.

Early recognition and multidisciplinary management are crucial for improving outcomes in Parry-Romberg syndrome.

The boy's genetic diagnosis of ectodermal dysplasia helped improve management and counseling for him and his sister.

Late dumping syndrome after fundoplication can be diagnosed with an oral glucose tolerance test and managed with diet changes.

If someone has scaly skin, muscle stiffness, and intellectual disability, doctors should consider Sjogren-Larsson Syndrome, but other conditions if more symptoms are present.

A complex X chromosome rearrangement can increase the risk of multiple autoimmune diseases.

Skin lesions in Carney Complex are caused by a gene change in some skin cells that leads to increased pigmentation and may lead to tumors.

Gomez–Lopez–Hernandez syndrome can cause focal hair loss and developmental delays but some children can still function well and excel in school and sports.

Personalized sonidegib dosing can effectively treat Gorlin-Goltz syndrome with fewer side effects.

A 16-year-old girl with a hair-eating disorder needed surgery to remove a hairball from her stomach and small bowel.

Gastroparesis can cause persistent TSH elevation in hypothyroidism despite treatment.

Routine genetic testing is crucial for early diagnosis and better management of Turner’s syndrome with 21-hydroxylase deficiency.

Early onset baldness in men may indicate a condition similar to PCOS, linked to heart disease, diabetes, and prostate issues.

Minimally invasive glaucoma surgery can effectively manage glaucoma in GAPO syndrome when other treatments fail.

Gene therapy has potential as a future treatment for Hutchinson-Gilford progeria syndrome.

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

A TNFAIP3 gene mutation can cause unusual and varied symptoms of lupus and Sjogren's syndrome.

A young Russian girl with Meier-Gorlin syndrome has two new mutations in the CDC6 gene.

Thorough evaluation and surgery are crucial for managing rare ovarian tumors in postmenopausal women with high androgen levels.

Steroids, infection management, and nutritional support can significantly improve symptoms of Cronkhite-Canada Syndrome.

Parry–Romberg Syndrome can involve the brain even without obvious symptoms, and a new diagnostic framework is suggested for early detection.

A new genetic change causing early stop in the androgen receptor gene was found in a patient with androgen insensitivity syndrome.

Androgenetic alopecia is linked to a higher risk of metabolic syndrome.

Skin lesions in Carney complex are likely caused by a specific group of skin cells that promote pigment production due to a genetic mutation.

Cronkhite-Canada Syndrome often leads to death within 6-18 months.

A new mutation in the TRPS1 gene caused Trichorhinophalangeal syndrome in a 17-year-old, highlighting the need for genetic testing.