Atypical presentation of pallister–Hall syndrome with central precious puberty

Abstract

Pallister–Hall syndrome (PHS) is a rare, autosomal dominant genetic disorder. The phenotypic features of the syndrome include hypothalamic hamartoma, polydactyly, craniofacial anomalies, and other malformations. This case report describes a 5-year-old girl with Central precocious puberty (CPP) due to the presence of suprasellar hypothalamic hamartoma. With a history of polydactyl, suspicion of PHS was made, and the genetic test showed a novel GLI3 gene mutation. CPP is treated with gonadotropin-releasing hormone agonist. In addition to CPP, an extensive endocrine evaluation revealed central hypothyroidism while other pituitary functions were intact. The variable clinical phenotype of PHS makes it challenging to diagnose early, especially in the sporadic form. However, suspicion of these cases and early diagnosis leads to a better outcome as many endocrine features may evolve during follow-up, which necessitates interventions.