Endocrine Disorders in Wilson Disease: A Didactic Review - 13/07/26
, Eleni TrypakiHighlights |
• | Wilson disease can be associated with endocrine disorders. |
• | Symptoms and signs of endocrine disorders, such as hypoparathyroidism, can overlap with WD manifestations. |
• | Endocrine disorders are usually attributable to copper toxicity to endocrine glans, although they can also occur in the context of cirrhosis. |
• | Copper chelation therapy and/or liver transplantation may improve or reverse endocrine abnormalities. |
Abstract |
Wilson disease is a genetic disorder of copper metabolism that is associated with a variety of clinical manifestations with hepatic and neuropsychiatric being the most relevant. Involvement of other organs is not uncommon and is attributed to copper accumulation and toxicity. Endocrine disorders have been sporadically reported including cases of hypoparathyroidism, hypopituitarism, gonadal abnormalities and metabolic bone disease. Several reports of hypoparathyroidism in children and young adults with hepatic and neurologic WD highlight the overlap between symptoms of hypoparathyroidism and neurologic symptoms of WD. Hypocalcemia in this context might be refractory to conventional supplementation requiring concomitant chelation therapy. Pituitary disorders can manifest as panhypopituitarism, hypothyroidism, secondary adrenal insufficiency or gonadal abnormalities. Pituitary MRI usually fails to show copper deposition, but these disorders may improve with chelation therapy. Menstrual cycle disorders, infertility and spontaneous abortions are more common in untreated or poorly controlled WD and may improve or resolve with chelation therapy. Hypogonadism can be the effect of cirrhosis in patients with hepatic WD. Metabolic bone disease also occurs largely in the context of cirrhosis. Recognizing such disorders might be challenging, as their clinical presentation may overlap with that of WD.
Le texte complet de cet article est disponible en PDF.Keywords : Wilson disease, endocrine abnormalities, hypoparathyroidism, menstrual irregularities, osteoporosis
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