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Testosterone and dihydrotestosterone treatments can help with penile growth in males with 5α-reductase type 2 deficiency, with dihydrotestosterone being more effective in infancy.

Significant progress was made in understanding PXE, but effective treatments are still needed.

Haplogroup X found in Altaian population supports Amerindian origin.

Non-classical 21 hydroxylase deficiency is an underdiagnosed cause of female hair loss and polycystic ovarian syndrome.

A rare benign skin tumor showed unusual features of sebaceous and sweat glands, important for correct diagnosis.

Two different mutations in the vitamin D receptor gene cause different symptoms and responses to treatment in Lebanese patients with hereditary rickets.

RSPO1 mutations in certain patients lead to skin cells that don't develop properly and are more likely to become invasive, increasing the risk of skin cancer.

Intravenous calcium therapy is a safe and effective treatment for a rare type of rickets.

In India, most patients with type 1 autoimmune polyglandular failure show symptoms in a specific order, starting with parathyroid gland issues, then yeast infections, and finally adrenal gland failure.

Biotin supplements significantly improved a young girl's uncombable hair.

Mutation in hairless gene may increase hair loss risk.

Mutation in hairless gene may increase hair loss risk.

The document concludes that individuals with a rare genetic disorder linked to the AEBP1 gene may experience a unique type of hair loss and should be monitored for heart issues.

CaBP1 and 2 are necessary for maintaining calcium currents and hearing in inner ear cells.

A Chinese family had a child with a specific gene mutation causing vitamin D-resistant rickets, but the child improved with calcium and low-dose calcitriol.

The Lanceolate hair-J mutation in mice mimics human hair disorders like Netherton's syndrome.

A 2-year-old boy had no hair and unusual organ placement, and it's unclear if it's genetic or coincidental.

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

Women with nonclassic 21-hydroxylase deficiency can have successful pregnancies through IVF, with certain factors affecting their chances.

Dupilumab helped improve skin and prevent new lesions in a child with a rare immune disorder and severe eczema.

Congenital Adrenal Hyperplasia is a rare inherited disease causing hormone imbalances, affecting growth, fertility, and heart health, diagnosed through blood tests and treated with medication and lifestyle changes.

Antifungal treatment can improve severe skin infections with cutaneous horns.

Non-classic congenital adrenal hyperplasia is a common disorder causing symptoms like acne and infertility, and it's managed based on symptoms, not just test results. Treatment can improve fertility and reduce miscarriage risk.

The document concludes that Rabson-Mendenhall syndrome requires novel treatments for insulin resistance and emphasizes the importance of dental care in affected patients.

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

Trichoscopy helps accurately diagnose Netherton syndrome, often mistaken for atopic dermatitis.

Over a third of women thought to have non-classical congenital adrenal hyperplasia didn't have it confirmed by genetic tests.

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.

Monilethrix causes different levels of hair loss in family members.

People with the same genetic mutation for Woodhouse-Sakati syndrome can have different symptoms.