IMPE Abstracts

Introduction: Cutaneous skeletal hypophosphatemia syndrome (CSHS) is a mosaic RASopathy caused by postzygotic activating mutations in HRAS, NRAS or KRAS. It is characterised by the presence of congenital epidermal, melanocytic, or sebaceous nevi, elevated circulating FGF23 levels that causes renal phosphate wasting and rickets, skeletal hypomineralization and focal bone lesions ipsilateral to nevi.Clinical Case: We repor...

Background: The role of Insulin-Like Growth Factor 1 (IGF1) in pre- and postnatal growth and brain development is widely recognized. It binds and activates its transmembrane receptor encoded by the IGF1R gene (15q26.3). Defects of IGF1R produces IGF1 resistance, characterized by pre- and postnatal growth retardation, microcephaly, and normal/elevated IGF1 serum levels, with great phenotypic variability.Aim: To e...

Introduction and aim: Establishing reference intervals (RI) is particularly problematic for constituents with a large diversity of existing biological variation and inter-population differences, as is observed for thyroid hormones and TSH. An alternative to this problem is to use indirect methods, with a large data pools base of results. Analyze thousands of subjects including some pathologic results is statistically stronger than 120 subjects that assume heal...

Background: Aldosterone synthase is a cytochrome P450 enzyme encoded by the CYP11B2 gene and responsible of the conversion of dehydrocorticosterone to aldosterone through three enzymatic steps: addition of the 11b-hydroxyl group to form corticosterone, 18-hydroxylation to form 18-hydroxycorticosterone, and 18-dehydrogenation to form aldosterone. Two types of aldosterone synthase deficiency have been reported: type I related to defects in 18-hydroxilation, and ...

Background: Non-classic forms of Congenital Adrenal hyperplasia (NCCAH) due to 21-hydroxylase deficiency are usually associated with variable degrees of postnatal androgen excess but adequate cortisol and aldosterone production. However, few studies have evaluated cortisol response.Aim: to describe the clinical, biochemical characteristics, and cortisol response to Corticotropin test in a cohort of patients with NCCAH st...

Background: 46,XX testicular/ovotesticular disorders of sexual development (T/OT DSD) are infrequent congenital conditions characterized by the presence of functional ovarian and testicular parenchyma or only testicular tissue in 46,XX individuals. Affected subjects present with different degrees of virilization of the external genitalia and development of Müllerian and Wolffian derivatives. Our knowledge about these conditions has been enlightened with t...