hrp0097p1-550 | Pituitary, Neuroendocrinology and Puberty | ESPE2023
M McGlacken-Byrne1 Sinead
, Wakeling Emma
, Gaston-Massuet Carles
, Peters Catherine
, Dattani Mehul
Introduction: Coffin-Siris Syndrome (CSS) is a rare multisystem genetic disorder which arises from genetic abnormalities within genes encoding for the SWI/SNF complex (ARID1A, ARID1B, DPF2, SMARCA4, SMARCB1, SMARCA2, SMARCE1). Endocrinopathies have been associated with CSS, including idiopathic short stature, hyperinsulinism, obesity, growth hormone deficiency, and cryptorchidism. Here, we describe the endocrine features of a series of children with S...