Prolactinoma as a cause of persistent hyperprolactinemia in 6-Pyruvoyl-tetrahydropterin synthase deficiency
Nicolas- Jilwan, Manal
Ainuddin Sulaiman, Raashda
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Abstract6-Pyruvoyl-tetrahydropterin synthase (PTPS) deficiency results in depletion of the brain neuro-transmitters serotonin and dopamine. Since dopamine is the physiological inhibitor of pituitary prolactin secretion, hyperprolactinemia is common in patients with PTPS deficiency. Serum prolactin concentrations are used for the monitoring and optimization of L-Dopa therapy. We report three adult patients with PTPS deficiency who had persistent hyperprolactinemia unresponsive to high dose L-Dopa therapy, and pituitary imaging confirmed microadenoma. In the presence of prolactinoma, serum prolactin is an unreliable tool for treatment monitoring in these patients. This report emphasizes the need to exclude other causes of hyperprolactinemia including prolactinoma, in patients who are compliant with optimized L-Dopa treatment and their prolactin levels remain significantly high.
CitationAlmasseri, Z., Nicolas- Jilwan, M., Almadani, A.K. et al. (2020) Prolactinoma as a cause of persistent hyperprolactinemia in 6-Pyruvoyl-tetrahydropterin synthase deficiency, Journal of Rare Diseases Research & Treatment, ) 5(2), pp. 1-5.
PublisherSciaccess Publishers LLC
JournalJournal of Rare Diseases Research & Treatment
Description© 2020 The Authors. Published by Journal of Rare Diseases Research & Treatment. This is an open access article available under a Creative Commons licence. The published version can be accessed at the following link on the publisher’s website: https://www.rarediseasesjournal.com/articles/prolactinoma-as-a-cause-of-persistent-hyperprolactinemia-in-6-pyruvoyl-tetrahydropterin-synthase-deficiency.html
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