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Severe genetic variants in children with a specific adrenal condition match predicted symptoms well, but milder variants do not.

Thyroid hormone therapy effectively treated the man's rare muscle and heart issues.

A 23-year-old woman's missed periods were caused by a rare genetic disorder treated with hormone patches.

ECCL should be considered in patients with specific skin and eye lesions.

Adults with Tatton-Brown-Rahman syndrome may have serious heart problems and need lifelong heart monitoring.

An 8-year-old boy with Recklinghausen's Disease shows various symptoms and is from a family with close genetic ties.

After tumor removal, the woman regained normal hormone levels, menstruated, and had a healthy baby.

Dermatologists should consider congenital syndromes like TRPS in young adults with early hair loss.

Mosaic Klinefelter syndrome can affect male fertility and may be missed in routine tests.

PCOS is a common hormonal disorder causing irregular periods and increased hair growth, linked to insulin resistance and long-term health issues.

A special blood test helped find the overactive ovary in a teen with PCOS, and removing that ovary improved her condition.

People with Mucopolysaccharidoses often have skin problems like thick skin and extra hair, and recognizing these can help diagnose and treat the condition early.

A specific gene mutation causes sparse, brittle hair in a family.

An 81-year-old woman's severe male hormone symptoms were caused by an ovarian tumor, which was treated with surgery.

Polycystic ovarian shape is a genetic sign of PCOS and its hormonal and metabolic features can be inherited.

Certain factors can trigger hormonal imbalances and cyst formation, leading to Polycystic Ovarian Syndrome (PCOS).

A woman's severe male hormone excess was caused by a small, hard-to-find ovarian tumor.

A deletion in the CDH3 gene causes a rare disorder with short hair and vision loss.

AMH levels can't reliably tell the difference between LOCAH and all types of PCOS in women with excessive hair growth.

A 13-year-old boy with a rare genetic condition survived a heart attack and improved with treatment.

The protein folliculin, involved in a rare disease, works with another protein to control how cells stick together and their organization, and changes in this interaction can lead to disease symptoms.

Researchers found a new mutation in the FERMT1 gene in a Spanish family with Kindler syndrome.

The patient's hair was thinner and had fewer lipids due to a genetic mutation.

A young patient with unusual insulin resistance and high testosterone levels had a rare INSR gene mutation.

PCOS is a common disorder in women causing symptoms like irregular periods and infertility, and requires early diagnosis and treatment.

A rare genetic disorder causes sparse hair and vision loss due to a CDH3 gene mutation.

PCOS is a common and costly condition in North American women, causing various health issues like obesity, diabetes, and fertility problems.

PCOS is a complex condition with major health impacts, needing more research for better diagnosis and treatment.

Clinical signs of excess male hormones and actual hormone levels in the blood do not always match in women with polycystic ovary syndrome.

A novel CLDN1 mutation in a 2-month-old with NISCH showed improvement with symptom management.