IMPE Abstracts

Introduction: Face2Gene (FDNA Inc., Boston, MA) is a web application for artificial intelligence-driven facial phenotyping, providing a list of the top thirty candidate syndromes based on gestalts from two-dimensional facial images of patients. Although the effectiveness of Face2Gene for the diagnosis of congenital syndromic disorders has been reported mainly in Caucasian populations, the sensitivities for syndromic endocrine-related disorders and the performa...

Introduction: Over-production of androgens is linked to prostate cancer (PCa) in men and polycystic ovary syndrome (PCOS) in women. CYP17A1 produces dehydroepiandrosterone (DHEA), the precursor for androgens, via its 17,20 lyase activity. CYP17A1 lyase activity is regulated by the amount of P450 reductase for electron transfer; the presence of cytochrome b5; and protein phosphorylation. High androgen levels were linked to the phosphorylation of CYP17A1 protein...

Introduction: Pediatric hypercalcemia is a rare condition. It occurs due to an imbalance between the endocrine system (PTH, calcitriol) and its target organs (bone, kidney and intestine). It is produced by multiple causes. Although it is usually asymptomatic, sometimes it could become an emergency, with increased morbidity and/or mortality.Objective: To describe etiologies, biochemical profiles, clinical characteristics ...

Impairment of body water and electrolytes homeostasis are frequently observed in pre and post-surgical patients with central nervous system tumors. Central diabetes insipidus (CDI) and the Syndrome of inadequate secretion of antidiuretic hormone represent the most frequently recognized entities with dysnaetremia. However, concomitant cerebral salt wasting syndrome (CSWS), with the characteristic triad of polyuria, hyponaetremia and natriuresis, might challenge the diagnostic s...