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Congenital Adrenal Hyperplasia is a genetic disorder with two forms, causing symptoms like early puberty and severe acne, but can be identified through screening and treated with glucocorticoids.

The document concludes that more research is needed to better understand and treat primary cicatricial alopecias, and suggests a possible reclassification based on molecular pathways.

Children with alopecia areata often have low vitamin D, especially if they have darker skin, it's not summer, or they're not White.

CAH is a genetic disorder affecting cortisol production and causing hormonal imbalances, with treatment and diagnosis varying by form and symptoms.

Two rare genetic diseases cause severe rickets in children due to defects in vitamin D metabolism.

Lack of cystatin M/E causes thin hair and dry skin.

People who carry the 21-Hydroxylase Deficiency gene are not more likely to have excessive male hormone levels.

Nonclassic adrenal hyperplasia is a genetic condition that can cause early puberty and fertility problems, treated with specific steroids.

Lack of certain vitamins causes fur loss and greying in silver foxes.

The UD-PrOZA program successfully diagnosed 18% of adult patients with rare diseases, often using genetic testing.

The document concludes that insulin resistance is key in PCOS development and early treatment is crucial to prevent complications.

The document concludes that the 5 alpha-reductase enzymes are important in steroid metabolism and related to various human diseases, with inhibitors used to treat conditions like male pattern baldness and prostate issues.

Identifying nonclassic congenital adrenal hyperplasia and carriers of CYP21 mutations is challenging, and genetic counseling is recommended due to their prevalence.

Researchers found a new gene variant linked to a rare bone disease, which doesn't always cause symptoms in carriers.

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

Low vitamin D might be linked to certain types of hair loss, and supplements could help, but more research is needed.

A mutation in the IKZF1 gene causes immune system overactivity, linked to autoimmune diseases like lupus.

Menopause can lead to skin and hair problems due to hormonal changes, but hormone replacement therapy might help slow these effects.

Genetic testing is crucial for diagnosing congenital atrichia, a rare condition causing irreversible hair loss.

Mothers with alopecia areata have a higher risk of adverse birth outcomes.

Mice lacking steroid 5α-reductase 2 show less aggression and better impulse control.

Dsg1 is essential for maintaining a healthy skin barrier in mice.

Platelet-rich plasma might help with hair growth and skin conditions, but more research is needed to prove its effectiveness and safety.

Molecular diagnostics help identify genetic defects causing endocrine diseases, improving diagnosis and treatment options.

Taking riboflavin and eating less lysine can help some people with a specific genetic disorder avoid brain damage.

5-alpha reductase deficiency leads to male sexual development issues and treatments like finasteride help with prostate enlargement and hair loss.

Understanding how DHT works is important for diagnosing and treating hormone-related disorders.

A calf in Scotland likely had Schmallenberg virus from its mother.

Thymus transplantation successfully restored immune function in infants with FOXN1 deficiency.

A 10-month-old boy with a rare combination of genetic conditions has severe immune deficiency and treatment challenges.