ESPE Abstracts

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...

Growth Hormone insensitivity (GHI) is characterized by short stature, GH resistance and IGF-1 deficiency. Classical GHI includes defects in the GH receptor and other genetic abnormalities downstream the GH cascade. Various short stature syndromes have phenotypes that overlap with GHI. This report discusses two cases of nonclassical GHI. Patient 1 is a boy with STAT3 gain-of-function syndrome (STAT3 GOF), characterized by immune dysregulation and growth failure. He developed ea...

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...