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Nina Dauth, Victoria T Mücke, Marcus M Mücke, Christian M Lange, Martin Welker, Stefan Zeuzem, and Klaus Badenhoop

Summary

Wilson’s disease (WD) is a rare disorder of copper metabolism usually presenting with variable liver damage and neuropsychiatric symptoms. Here we report a 39-year-old Taiwanese female with late manifestation of WD presenting with gonadotroph, thyreotroph and corticotroph hypopituitarism. Molecular genetic testing revealed compound heterozygosity for two mutations in exons 12 and 14 (c.2828G>A and c.3140A>T). Copper-chelating therapy with D-penicillamine and zinc was initiated along with supplementation of hydrocortisone and L-thyroxine. Hypopituitarism resolved when urinary copper excretion returned to normal levels under copper chelation. This case should raise awareness of pituitary function in WD patients.

Learning points

  • Hypopituitarism can complicate Wilson’s disease (WD) and endocrinologists should be aware of it when caring for hypopituitary patients.
  • Hepatologists should consider endocrinologic testing for hypopituitarism when WD patients present with symptoms of adrenal insufficiency, thyroid or gonadal dysfunction.
  • Copper-chelating treatment is mandatory and may lead to the recovery of pituitary function in such patients.