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

Abstract

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.

Keywords

• adrenal insufficiency
• hamartoma
• hypopituitarism
• Pallister–Hall syndrome