Pallister–Hall syndrome diagnosed in a young man after an acute adrenal crisis

Pallister–Hall syndrome (PHS) is a very rare genetic disorder. The diagnosis is usually suspected at the young age when a hypothalamic hamartoma is associated with polydactyly. Endocrine manifestations are mostly related to hypothalamic hamartoma and rarely reveal the disease. We report the case of...

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Autores principales: Grassa, Anis, Yazidi, Meriem, Marrakchi, Jihene, Bel Hadj Sliman, Chaima, Oueslati, Ibtissem, Chihaoui, Melika
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9393873/
https://www.ncbi.nlm.nih.gov/pubmed/36017114
http://dx.doi.org/10.1002/ccr3.6249
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author Grassa, Anis
Yazidi, Meriem
Marrakchi, Jihene
Bel Hadj Sliman, Chaima
Oueslati, Ibtissem
Chihaoui, Melika
author_facet Grassa, Anis
Yazidi, Meriem
Marrakchi, Jihene
Bel Hadj Sliman, Chaima
Oueslati, Ibtissem
Chihaoui, Melika
author_sort Grassa, Anis
collection PubMed
description Pallister–Hall syndrome (PHS) is a very rare genetic disorder. The diagnosis is usually suspected at the young age when a hypothalamic hamartoma is associated with polydactyly. Endocrine manifestations are mostly related to hypothalamic hamartoma and rarely reveal the disease. We report the case of an 18‐year‐old young man in whom the diagnosis of PHS was delayed until his hospitalization in the endocrinology department for acute adrenal insufficiency.
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spelling pubmed-93938732022-08-24 Pallister–Hall syndrome diagnosed in a young man after an acute adrenal crisis Grassa, Anis Yazidi, Meriem Marrakchi, Jihene Bel Hadj Sliman, Chaima Oueslati, Ibtissem Chihaoui, Melika Clin Case Rep Case Report Pallister–Hall syndrome (PHS) is a very rare genetic disorder. The diagnosis is usually suspected at the young age when a hypothalamic hamartoma is associated with polydactyly. Endocrine manifestations are mostly related to hypothalamic hamartoma and rarely reveal the disease. We report the case of an 18‐year‐old young man in whom the diagnosis of PHS was delayed until his hospitalization in the endocrinology department for acute adrenal insufficiency. John Wiley and Sons Inc. 2022-08-22 /pmc/articles/PMC9393873/ /pubmed/36017114 http://dx.doi.org/10.1002/ccr3.6249 Text en © 2022 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. https://creativecommons.org/licenses/by/4.0/This is an open access article under the terms of the http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Grassa, Anis
Yazidi, Meriem
Marrakchi, Jihene
Bel Hadj Sliman, Chaima
Oueslati, Ibtissem
Chihaoui, Melika
Pallister–Hall syndrome diagnosed in a young man after an acute adrenal crisis
title Pallister–Hall syndrome diagnosed in a young man after an acute adrenal crisis
title_full Pallister–Hall syndrome diagnosed in a young man after an acute adrenal crisis
title_fullStr Pallister–Hall syndrome diagnosed in a young man after an acute adrenal crisis
title_full_unstemmed Pallister–Hall syndrome diagnosed in a young man after an acute adrenal crisis
title_short Pallister–Hall syndrome diagnosed in a young man after an acute adrenal crisis
title_sort pallister–hall syndrome diagnosed in a young man after an acute adrenal crisis
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9393873/
https://www.ncbi.nlm.nih.gov/pubmed/36017114
http://dx.doi.org/10.1002/ccr3.6249
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