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.