hrp0098p2-235 | Pituitary, Neuroendocrinology and Puberty | ESPE2024

A rare case of hypogonadotropic hypogonadism associated with skeletal anomalities: ulnar-mammary syndrome

Mancioppi Valentina , Cavarzere Paolo , Lupieri Valentina , Battiston Riccardo , Morandi Anita , Maffeis Claudio

Keywords: Ulnar-mammary syndrome; TBX3 gene; Hypogonadotropic hypogonadism; Skeletal anomalies, PolydactylyBackground: Hypogonadotropic hypogonadism (HH) is an increasingly frequent medical condition deriving from a dysregulation of the hypothalamic-pituitary-gonadal axis function, which leads to low sex hormone levels associated with low gonadotropin levels. It can be congenital or acquired. Congenital HH, whose inciden...

hrp0098p3-189 | Multisystem Endocrine Disorders | ESPE2024

Endocrinological sequelae of protein-losing enteropathy in an italian child

Cavarzere Paolo , Mancioppi Valentina , Battiston Riccardo , Lupieri Valentina , Cristofaletti Alessandra , Morandi Anita , Maffeis Claudio

Background: Protein-losing enteropathy (PLE) is a complex life-threatening complication that occurs in 5-15% of patients who undergo Fontan procedure to palliate a functional or anatomic single ventricle. Patients with PLE suffer from enteric protein loss, hypoproteinemia, hypoalbuminemia and electrolyte alterations. Enteral budesonide is widely recognized as the corticosteroid of choice to treat gut inflammation underlying PLE for its strong local anti-inflam...