Introduction
Pallister-Hall syndrome (PHS) is a very rare congenital syndrome, and its exact prevalence is still unknown (<1/106). It was first described in 1981 by Philip Pallister and Judith Hall. To date only 100 patients have been described worldwide [1]. The genetic abnormalities involved are mutations in the GLI3 gene (7p13) encoding a transcription factor activated by the Sonic hedgehog signalling pathway [2-4]. The clinical diagnosis is usually made when a hypothalamic hamartoma is associated with polydactyly [5,6]. Additional symptoms and findings may include oro-facial malformations and other abnormalities like genitourinary malformations [7,8]. Endocrine manifestations are mostly related to hypothalamic hamartoma. They consist of hypopituitarism, which can affect one or more pituitary axes, and precocious puberty [8]. Here, 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.