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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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Detalles Bibliográficos
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:
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
Descripción
Sumario: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.