Open AccessPallister–Hall syndrome diagnosed in a young man after an acute adrenal crisis
Author(s) -
Grassa Anis,
Yazidi Meriem,
Marrakchi Jihene,
Bel Hadj Sliman Chaima,
Oueslati Ibtissem,
Chihaoui Melika
Publication year - 2022
Publication title -
clinical case reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.21
H-Index - 9
ISSN - 2050-0904
DOI - 10.1002/ccr3.6249
Subject(s) - medicine , hypothalamic hamartoma , polydactyly , adrenal insufficiency , endocrine system , pediatrics , hamartoma , adrenal crisis , endocrine disease , disease , pathology , precocious puberty , hormone , anatomy
Abstract 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.