Searchable abstracts of presentations at key conferences on calcified tissues

ba0006p046 | (1) | ICCBH2017

A 16 years old follow up in one case of congenital multiple hormone deficiency: growth, sexual development and bone metabolism

Petrolini Chiara , Stagi Stefano , Rubino Chiara , Gioe Daniela , Spina Luisa La , Peluso Francesca , Monica Matteo Della , Martino Maurizio de

Background: Congenital multiple hormone deficiency (CMHD) is a rare condition caused by mutations in transcription factors involved in pituitary ontogenesis1. Incidence of mutations in POU1F1 gene in results between 3.8 and 7.7%2. POU1F1 gene mutations lead to somatolactotroph and thryotroph deficiencies. Brain MRI can be normal or shows pituitary hypoplasia without extrapituitary anomalies.Presenting problem: We describe the growth...