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This cross-sectional study investigates endocrine changes in children diagnosed with Wilson's disease, aiming to characterize hormonal dysfunctions affecting pituitary, thyroid, adrenal, and gonadal axes.
Wilson's disease (WD) is an inherited copper metabolism disorder leading to copper accumulation in various organs including endocrine glands. While hepatic and neurological effects are well-documented, endocrine manifestations remain insufficiently studied in children. This study will systematically assess hormonal axes-including pituitary, growth hormone, thyroid, adrenal, and gonadal functions-through clinical evaluation, pubertal staging, and biochemical tests. The study aims to measure the prevalence and spectrum of endocrine abnormalities in pediatric WD patients and correlate them with disease severity and therapy. Findings will highlight underrecognized complications that impact growth, puberty, and fertility, contributing to more comprehensive management of WD in children.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Pediatric Wilson's Disease Group | All eligible children with Wilson's disease (diagnosed and under treatment or newly diagnosed) evaluated cross-sectionally for endocrine function. |
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| Measure | Description | Time Frame |
|---|---|---|
| prevalence of endocrine dysfunction in pediatric Wilson's disease | Identification and classification of hormonal abnormalities affecting pituitary, adrenal, thyroid, and gonadal axes at study enrollment | baseline |
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Inclusion Criteria:
Confirmed diagnosis of Wilson's disease (based on clinical features, biochemical markers such as serum ceruloplasmin and 24-hour urinary copper)
Both newly diagnosed and treated patients (chelation/zinc therapy)
Informed consent from parents or guardians
Exclusion Criteria:
Concurrent use of medications affecting hormonal function unless prescribed for WD (steroids, thyroid replacements, contraceptives)
Chronic systemic illnesses that confound endocrine assessment (e.g., malignancy, chronic renal failure)
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All eligible children with Wilson's disease (diagnosed and under treatment or newly diagnosed) evaluated cross-sectionally for endocrine function.
| PubMed Identifier | Type | Citation | Retractions |
|---|---|---|---|
| 25364683 | Background | Kapoor N, Shetty S, Thomas N, Paul TV. Wilson's disease: An endocrine revelation. Indian J Endocrinol Metab. 2014 Nov;18(6):855-7. doi: 10.4103/2230-8210.141383. |
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| ID | Term |
|---|---|
| D006527 | Hepatolenticular Degeneration |
| ID | Term |
|---|---|
| D008107 | Liver Diseases |
| D004066 | Digestive System Diseases |
| D001480 | Basal Ganglia Diseases |
| D001927 | Brain Diseases |
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| D002493 |
| Central Nervous System Diseases |
| D009422 | Nervous System Diseases |
| D020739 | Brain Diseases, Metabolic, Inborn |
| D001928 | Brain Diseases, Metabolic |
| D009069 | Movement Disorders |
| D020271 | Heredodegenerative Disorders, Nervous System |
| D019636 | Neurodegenerative Diseases |
| D030342 | Genetic Diseases, Inborn |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D008661 | Metabolism, Inborn Errors |
| D008664 | Metal Metabolism, Inborn Errors |
| D008659 | Metabolic Diseases |
| D009750 | Nutritional and Metabolic Diseases |