Endocrine Dysfunction in Pediatric Wilson's Disease

A Cross-sectional Study of Endocrine Changes in Children With Wilson's Disease at Assiut University Children's Hospital

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.

Inclusion Criteria:

• Children aged 3-18 years

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:

• Congenital or acquired endocrine disorders unrelated to WD (e.g., congenital hypothyroidism, pituitary tumors)

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)