hrp0097p2-168 | Adrenals and HPA Axis | ESPE2023

Cushing’s Disease: an Example of Drug Shortage’s Impact in Pediatric Endocrinology.

Del Medico Giulia , Chiti Nicolo' , Stagi Stefano

Cushing’s disease (CD) is defined as hypercortisolism secondary to an adrenocorticotropin (ACTH) secreting pituitary adenoma. It is rare in the pediatric age and early diagnosis and treatment are important to prevent long-term complications. In the diagnostic workup, bilateral inferior petrosal sinus sampling (BIPSS) of ACTH after corticotropin-releasing hormone (CRH) stimulation is the gold standard in the differential diagnosis of ACTH-dependent hypercortisolism. We re...

hrp0097p1-136 | Multisystem Endocrine Disorders | ESPE2023

Endocrinopathies in Congenital Disorder of Glycosylation (CDG): Short stature and hypergonadotropic hypogonadism are the main endocrinological manifestations in two unrelated cases of PMM2-CDG.

Del Medico Giulia , Procopio Elena , Ferri Lorenzo , Annibalini Giosuè , Morrone Amelia , Stagi Stefano , Barbieri Elena

Introduction: PMM2-CDG is the most common congenital disorder of glycosylation (CDG). Since glycoproteins are involved in every endocrine axis, PMM2-CDG patients have a high risk of developing endocrinopathies.Case report: We describe two 12 years-old female PMM2-CDG patients with severe short stature and no clinical sign of puberty. One patient showed low serum levels of insulin-like growth factor-1 (IGF-1) and IGF bind...