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A male with aromatase deficiency improved bone health with estradiol treatment.

A young Saudi girl with uncontrolled type 1 diabetes and hypothyroidism had two rare conditions, Mauriac syndrome and Van Wyk–Grumbach syndrome.

Estrogens are key for bone growth spurts in both boys and girls and affect growth into adulthood.

Oestrogens are key for bone growth during puberty in both boys and girls.

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

A boy's growth and immune problems were caused by a new mutation in the STAT5B gene.

The article concludes that a balance is needed between individual healthcare needs and societal resources when it comes to lifestyle drugs, with a call for compassionate policy application.

Early diagnosis of Trichorhinophalangeal syndrome type 1 is crucial for treatment and was achieved through clinical examination and family history.

Genetic screening is crucial for accurately diagnosing APS-1 due to its varied symptoms.

Hair loss can be a key sign of a rare type of rickets when vitamin D treatment doesn't work and advanced tests aren't available.

The document explains the genetic causes and characteristics of inherited hair disorders.

K_ATP channel gene mutations are linked to heart diseases, but more research is needed to understand the connection and treatment potential.

The document concludes that eyelash trichomegaly, which is the abnormal growth of eyelashes, can be present from birth, caused by diseases, or result from certain medications.

Cantú syndrome may be linked to pituitary adenomas.

The document concludes that accurate diagnosis of male and female gonadal disorders is crucial for effective treatment and better patient outcomes.

A genetic mutation in the DCAF17 gene caused Woodhouse-Sakati syndrome in a Chinese patient from a related family.

Netherton's syndrome is linked to high IgE levels and unique skin and hair symptoms, and may improve with ammonium lactate lotion and allergy management.

The nafarelin test can reliably distinguish between gonadotropin deficiency and delayed puberty in teenage boys.

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.

Siblings with signs of virilization should be tested for non-classical congenital adrenal hyperplasia, which does not affect adult height but may impact fertility and well-being if untreated.

The guideline recommends mental health involvement in diagnosing gender identity disorder and outlines hormone and surgical treatment protocols, emphasizing safety, informed consent, and long-term monitoring.

A girl with a rare genetic disorder had a unique bone condition, highlighting the need for careful diagnosis and suggesting the disorder might be more common than thought.

Early surgical treatment for severe facial injuries from high-energy impacts leads to better recovery.

A child with a rare vitamin D-resistant condition improved with treatment.

More young women are getting diagnosed with PCOS, which can lead to other health problems, but early treatment can help.

A 19-year-old male with delayed puberty was successfully treated for a condition that prevents normal hormone production.

A hormone linked to collagen helps hair grow back in mice after chemotherapy, and may also prevent bone loss.

Acne in children varies by age and severity, requires a pediatric treatment approach, and may need diagnostic evaluation for underlying conditions.

Testosterone therapy aims to treat hormone deficiencies and various conditions safely and effectively, but requires careful patient monitoring due to potential side effects.

The document concludes that managing non-classical congenital adrenal hyperplasia in females requires personalized treatment, genetic counseling, and a team of specialists.