Searchable abstracts of presentations at key conferences in endocrinology

ea0066p74 | Pituitary | BSPED2019

STAT5B missense variant causing growth hormone deficiency with subclinical hypothyroidism and immune deficiency in a 13-year-old female: a case report

Verma Prashant Kumar , Mehta Sonalika , Chacham Swathi , Bhat Nowneet Kumar

Introduction: STAT5 proteins are components of the common growth hormone and interleukin-2 family of cytokine signaling pathway which is a critical molecule involved in growth hormone receptor (GHR) signal transduction, mediating the growth-promoting actions of the GHR. In addition to its role in GHR signal transduction, STAT5B is also involved in the immune system as an important mediator of interleukin-2 action and disruption of this signal transduction is responsible for T-...