{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,27]],"date-time":"2025-12-27T21:15:26Z","timestamp":1766870126016,"version":"3.41.2"},"reference-count":15,"publisher":"SAGE Publications","license":[{"start":{"date-parts":[[2024,1,1]],"date-time":"2024-01-01T00:00:00Z","timestamp":1704067200000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["SAGE Open Medical Case Reports"],"published-print":{"date-parts":[[2024,1]]},"abstract":"<jats:p> Germline pathogenic variants found in the phosphatase and tensin homolog gene are associated with a range of rare syndromes that collectively fall under the umbrella of phosphatase and tensin homolog hamartoma tumor syndromes. Due to the wide array of possible clinical presentations and the varying degrees of symptom severity, many individuals with phosphatase and tensin homolog hamartoma tumor syndromes might remain undiagnosed for an extended period. We describe a case of a male child who received the diagnosis at the age of 12. His clinical features included macrocephaly, hypertrophy in the left arm, thyroid nodules, penile freckles, developmental delay, and an autism spectrum disorder. Whole exome sequencing revealed a de novo heterozygous variant in the phosphatase and tensin homolog. The case highlights the diverse and complex nature of phosphatase and tensin homolog hamartoma tumor syndromes, emphasizing the necessity for early diagnosis, multidisciplinary care, and surveillance protocols, offering the potential for improved prognostic outcomes and enhanced quality of life for affected individuals. <\/jats:p>","DOI":"10.1177\/2050313x241245317","type":"journal-article","created":{"date-parts":[[2024,4,6]],"date-time":"2024-04-06T10:30:51Z","timestamp":1712399451000},"update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":2,"title":["The complexity of phosphatase and tensin homolog hamartoma tumor syndrome: A case report"],"prefix":"10.1177","volume":"12","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6506-0632","authenticated-orcid":false,"given":"Kakha","family":"Bregvadze","sequence":"first","affiliation":[{"name":"Department of Molecular and Medical Genetics, Tbilisi State Medical University, Tbilisi, Georgia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sheeda","family":"Jabeen","sequence":"additional","affiliation":[{"name":"Faculty of Medicine, Tbilisi State Medical University, Tbilisi, Georgia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shifa Mohamed","family":"Rafi","sequence":"additional","affiliation":[{"name":"Faculty of Medicine, Tbilisi State Medical University, Tbilisi, Georgia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tinatin","family":"Tkemaladze","sequence":"additional","affiliation":[{"name":"Department of Molecular and Medical Genetics, Tbilisi State Medical University, Tbilisi, Georgia"},{"name":"Department of Pediatrics, Givi Zhvania Pediatric Academic Clinic, Tbilisi State Medical University, Tbilisi, Georgia"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2024,4,6]]},"reference":[{"key":"bibr1-2050313X241245317","unstructured":"Yehia L, Eng C. PTEN Hamartoma tumor syndrome. In: Adam MP, Feldman J, Mirzaa GM, et al. (eds.) GeneReviews\u00ae. 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