{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,25]],"date-time":"2026-09-25T05:00:01Z","timestamp":1790312401357,"version":"4.1.0"},"reference-count":18,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2026,9,25]],"date-time":"2026-09-25T00:00:00Z","timestamp":1790294400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Endocrinol."],"abstract":"<jats:sec>\n                    <jats:title>Introduction<\/jats:title>\n                    <jats:p>\n                      Pallister-Hall syndrome (PHS) is a rare autosomal dominant disorder caused by pathogenic variants in\n                      <jats:italic>GLI3<\/jats:italic>\n                      gene. It is characterized by variable combinations of hypothalamic hamartoma, polydactyly, bifid epiglottis, renal and genitourinary abnormalities, imperforate anus, and pituitary dysfunction. Most cases are recognized during infancy or childhood; adult presentation is uncommon and hypoglycemia is not an established manifestation of PHS.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Case description<\/jats:title>\n                    <jats:p>\n                      A 26-year-old man with obesity and well-controlled hypertension was referred for evaluation of recurrent fasting and postprandial hypoglycemia associated with intermittent brief loss of consciousness. Physical examination revealed class III obesity, acanthosis nigricans, hand polydactyly, and a history of surgically removed extra toe in childhood. Family history was remarkable for polydactyly affecting the mother and multiple maternal relatives. Biochemical evaluation demonstrated recurrent hypoglycemia with inappropriately unsuppressed insulin and C-peptide concentrations, compatible with endogenous hyperinsulinemic hypoglycemia, during both prolonged fasting and mixed-meal testing. Abdominal magnetic resonance imaging showed no pancreatic lesion but an atrophic right kidney and hepatic steatosis. Whole-exome sequencing identified a heterozygous\n                      <jats:italic>GLI3<\/jats:italic>\n                      deletion with frameshift variant (NM_000168.6:c.2059del, p.(Glu687LysfsTer6)), confirming the diagnosis of PHS. Subsequent investigations demonstrated a hypothalamic hamartoma and partially bifid epiglottis, further confirming the diagnosis of PHS. The patient was referred for multidisciplinary management and genetic counseling.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>This case highlights an unusual late presentation of PHS with recurrent hypoglycemia, severe obesity, and episodic loss of consciousness and demonstrates the multi-systemic involvement in PHS. It emphasizes the importance of careful phenotypic assessment and the value of genetic testing in establishing a unifying diagnosis in complex presentations.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.3389\/fendo.2026.1925714","type":"journal-article","created":{"date-parts":[[2026,9,25]],"date-time":"2026-09-25T04:27:19Z","timestamp":1790310439000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":0,"title":["Case Report: Pallister-Hall syndrome diagnosed in adulthood during evaluation of recurrent hypoglycemia"],"prefix":"10.3389","volume":"17","author":[{"given":"Noha N.","family":"Mukhtar","sequence":"first","affiliation":[{"name":"Department of Medicine, King Faisal Specialist Hospital & Research Centre","place":["Riyadh, Saudi Arabia"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Montaha","family":"Demyati","sequence":"additional","affiliation":[{"name":"Department of Medicine, Prince Mohammed Bin AbdulAziz Hospital","place":["Almadinah, Saudi Arabia"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Allianah","family":"Benito","sequence":"additional","affiliation":[{"name":"Molecular Endocrine Section, Research and Innovation, King Faisal Specialist Hospital & Research Centre","place":["Riyadh, Saudi Arabia"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ali S.","family":"Alzahrani","sequence":"additional","affiliation":[{"name":"Department of Medicine, King Faisal Specialist Hospital & Research Centre","place":["Riyadh, Saudi Arabia"]},{"name":"Molecular Endocrine Section, Research and Innovation, King Faisal Specialist Hospital & Research Centre","place":["Riyadh, Saudi Arabia"]}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1965","published-online":{"date-parts":[[2026,9,25]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"47","DOI":"10.1002\/ajmg.1320070110","article-title":"Congenital hypothalamic hamartoblastoma, hypopituitarism, imperforate anus, and postaxial polydactyly: a new syndrome? 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