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Woodhouse-Sakati syndrome can cause writer's cramp and other varied symptoms, highlighting the importance of genetic testing for diagnosis.

PCOS should be reclassified into two types based on hormone levels and symptoms.

A new syndrome, Teelwani Syndrome, combines features of two rare genetic disorders.

Identical twins had different symptoms because one had more cells with an extra chromosome fragment in different tissues.

Unregulated glucocorticoid use can disrupt hormone balance and cause serious health issues.

People with Down syndrome have a higher risk of skin disorders and need better screening and treatment.

Three siblings with a rare genetic condition had abnormal sexual development and chose different gender identities, needing surgery and therapy.

JSLE patients often have more hormone and metabolism issues, so regular check-ups and preventing obesity can help.

Women with polycystic ovary syndrome have a higher risk of certain fractures.

RNA-based treatments show promise for managing Hutchinson-Gilford Progeria Syndrome.

A 6-year-old boy in India was diagnosed with Bloom's syndrome, showing growth and developmental issues, and skin problems worsened by sunlight.

Different PCOS subgroups have similar metabolic features, but those without menstrual problems have milder issues.

Diagnosing PCOS in teenagers should focus on signs of excess male hormones and not rely solely on ovarian ultrasound or irregular periods, and should be reassessed in adulthood.

The LMNA mutation affects skin structure even in asymptomatic carriers.

A new mutation in the PLEC gene causes a rare condition with skin blistering, muscle weakness, and hair loss.

The document explains the types of excessive hair growth and how to manage it.

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

Patients with myotonic dystrophy often have skin problems that suggest early aging and vitamin D issues, and the severity of these problems is linked to their genetic condition and vitamin D levels.

PCOS is a common hormonal disorder in women, treated with lifestyle changes and hormonal therapy.

Some family members had a condition with both loose hair and unique eye changes, possibly indicating a new type of ectodermal dysplasia.

Methotrexate effectively managed SAPHO syndrome symptoms when other treatments failed.

A boy had a rare scalp condition with thickened skin and different-colored hair.

Ovarian stromal hyperplasia can cause high testosterone in postmenopausal women and is treated by removing the ovaries.

Children with different rheumatologic diseases have specific skin symptoms that can help with diagnosis.

The keratin 5 mutation in a family with epidermolysis bullosa simplex was due to mosaicism, not a new mutation.

Women with type 1 diabetes often have polycystic ovary syndrome and excess male hormones, which are frequently undiagnosed.

Cronkhite-Canada syndrome can cause multiple gastrointestinal polyps and various physical symptoms.

Hair bands are a new symptom of facio-genito-popliteal syndrome.

Cronkhite-Canada syndrome may be more treatable and less severe than previously thought.

A specific genetic change is linked to mental disorders, intellectual disability, and possibly autoimmune disease in a family.