research Genetic Disorders and Defects in Vitamin D Action
Two rare genetic diseases cause severe rickets in children due to defects in vitamin D metabolism.
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150-180 / 1000+ resultsresearch 1,25-dihydroxyvitamin D resistance, rickets, and alopecia
A genetic defect in vitamin D receptors causes severe rickets and hair loss in children, but some heal as they age.
research Clinical and genetic findings in a Chinese family with VDR-associated hereditary vitamin D-resistant rickets
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.
research Complete Pseudo-Anodontia in an Adult Woman with Pseudo-Hypoparathyroidism Type 1a: A New Additional Nonclassical Feature?
A woman with a rare hormone resistance condition also had missing teeth and hair loss, which might be new symptoms of her genetic disorder.
research Varying Presentation of Type 1 Polyglandular Failure in India
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.
research Mucocutaneous manifestations of acquired hypoparathyroidism: An observational study
Most patients with acquired hypoparathyroidism after neck surgery had hair, nail, and skin issues.
research What do we know about osteoma cutis? Literature review. Clinical cases
Osteoma cutis is a rare, benign skin condition where bone forms in the skin.
research Persistent hyperparathyroidism in vitamin D-dependent rickets type 2A does not prevent normalization of hypophosphatemia or healing of the rickets
Persistent hyperparathyroidism doesn't stop rickets healing or phosphate level normalization in VDDR2A.
research New approaches to the treatment of osteoporosis
Future osteoporosis treatments should focus on increasing bone growth, with many promising options available.
research Minoxidil restores thymic growth in 22q11.2 deletion syndrome by limiting Sox9+ chondrocyte expansion
Minoxidil helps restore thymus size in 22q11.2 deletion syndrome.
research Non-nutritional rickets: Approach, precision medicine, and outcomes
Early diagnosis and tailored treatment improve outcomes for non-nutritional rickets.
research Whitaker syndrome: A case report of autoimmune polyendocrine syndrome type 1 with dilated cardiomyopathy
Early recognition and multidisciplinary management of Whitaker syndrome can improve patient outcomes.
research A Large Benign Adrenocortical Adenoma Cosecreting Testosterone and Cortisol
A woman's rare benign tumor that released both cortisol and testosterone was successfully removed, improving her health.
research SAT-467 A Case of Pituitary Hyperplasia Secondary to Uncontrolled Primary Hypothyroidism
Taking thyroid medication reduced the patient's pituitary gland swelling and improved her symptoms.
research Case Report: Exceptional Association of Leydig Cell Ovarian Tumor and Primary Hyperparathyroidism in a Postmenopausal Patient
A woman with a rare ovarian tumor and hyperparathyroidism improved after surgery, highlighting the need for reporting unusual cases to understand and manage rare diseases.
research SAT-080 An Atypical Adenoma Presenting with Hyperandrogenism: A Rare Case Presentation on a Pituitary Germ Cell Tumor
A rare pituitary tumor in an 18-year-old male caused hormonal issues and vision loss, requiring surgery and further treatment.
research PMON325 Rare Presentation of Precocious Puberty Secondary to LH-Secreting Adenoma
An 8-year-old boy's early puberty was caused by a rare hormone-secreting brain tumor, which was successfully treated with surgery.
research Endometrioid adenofibroma arising in an endometriotic cyst
A woman's pelvic pain and bleeding led to finding and successfully treating a rare benign tumor in her reproductive system.
research A RARE PRESENTATION OF A SOLITARY RIGHT LOBE THYROID NODULE IN THE BACKGROUND OF MULTINODULAR GOITER
The thyroid nodule was benign, and surgery was successful with a smooth recovery.
research P-017 CUSHING'S SYNDROME DUE TO PRIMARY BILATERAL MACRONODULAR ADRENAL HYPERPLASIA AND METACRONOUS PHEOCHROMOCYTOMA
A rare case of Cushing's syndrome and pheochromocytoma requires careful re-evaluation to avoid complications.
research Idiopathic hypoparathyroidism with extensive intracranial calcification in children
An 11-year-old boy in Saudi Arabia has a rare case of hypoparathyroidism with severe brain calcifications but normal development and no known cause.
research A RARE PRESENTATION OF A SOLITARY RIGHT LOBE THYROID NODULE IN THE BACKGROUND OF MULTINODULAR GOITER
Thorough evaluation and treatment are crucial for thyroid nodules.
research MON-080 Cushing Disease Secondary To Rathke’s Cleft Cyst
Rathke’s cleft cysts can rarely cause Cushing disease, and surgery can improve symptoms.
research Kinetic topographical heterogeneity in follicular thyroid neoplasms and growth patterns
Different growth patterns in thyroid tumors are influenced by where cell growth and death occur.
research Putative paraneoplastic alopecia in a cat with apocrine adenocarcinoma
The cat's hair loss was linked to a type of cancer.
research [ADRENOCORTICAL CARCINOMA].
Adrenocortical carcinoma is a rare, aggressive adrenal gland cancer with a poor outlook.
research FRI220 Primary Bilateral Macronodular Adrenal Hyperplasia: A Rare Cause Of Cushing Syndrome
A rare case of Cushing syndrome was successfully treated with one-sided adrenal gland removal, suggesting personalized treatment is important.
research Adrenal myelolipoma: A rare entity
A rare adrenal gland tumor can cause unusual symptoms due to hormone changes.
research Adenolipoma—Eccrine and Apocrine Variants With Evidence for a Hamartomatous Process
Adenolipomas may develop from gland entrapment by fat tissue, showing complex and varied forms.
research 212 DISTURBANCES OF REPRODUCTIVE FUNCTION IN WOMEN WITH PITUITARY ADENOMA
Women with pituitary adenomas often have reproductive issues, like irregular periods and trouble getting pregnant, but not always breast milk production without pregnancy.