Unusual case of Cowden-like syndrome, neck paraganglioma, and pituitary adenoma
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Updated: May 10, 2026

Endoscopic Endonasal Trans-sphenoidal Approach: Minimally Invasive Surgery for Pituitary Adenomas
Published on: January 17, 2018
Zoe A Efstathiadou1, Michail Sapranidis, Panagiotis Anagnostis
1Department of Endocrinology, "Hippokration" General Hospital of Thessaloniki, Thessaloniki, Greece.
Background:
Pituitary tumors, paragangliomas, and Cowden syndrome do not usually occur together.
Methods:
The synchronous presentation of papillary thyroid carcinoma and neck paraganglioma was revealed in a 43-year-old woman who had been diagnosed with a microprolactinoma one decade before and now presented with a constellation of characteristics that are components of Cowden syndrome, specifically macrocephaly, multiple skin papules, fibrocystic mammary disease, and uterine leiomyofibroma.
Results:
Germline mutation analysis of phosphatase and tensin homolog (PTEN), succinate dehydrogenase subunit B (SDHB), succinate dehydrogenase subunit C (SDHC), and succinate dehydrogenase subunit D (SDHD) was performed with revelation of 3 polymorphic sites in introns 1, 4, and 8 of the PTEN gene and 1 polymorphic site in exon 1 of the SDHB gene, but absence of known pathogenic mutations.
Conclusion:
The coexistence of Cowden-like syndrome, neck paraganglioma, and pituitary adenoma is described for the first time, and could represent a novel genetic syndrome with an as yet unidentified common genetic basis.
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