hrp0095p2-217 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

A rare case of Cystic fibrosis and Pallister-Hall syndrome combination in a 3-year-old boy

Khabibullina Dina , Novokreshhennyx Evgeniya , Kolodkina Anna

Introduction: Pallister-Hall syndrome (PHS) is a rare disease with autosomal dominant pattern of inheritance caused by CHD7 gene mutation and characterized by epiglottis malformation, polydactyly or oligodactyly, hypothalamic hamartoma and visceral abnormalities. Central precocious puberty is the most common endocrine abnormality detected in PHS. Regardless isolated growth hormone deficiency, pan hypopituitarism and genitourinary malformation are reported in P...