ESPE Abstracts

Capillary hyperglycemia in critically ill infants is a situation with numerous interfering factors, from acute illnesses to concomitant use of medications and may or may not be a manifestation of endocrinological urgency. Clinical case: Female patient, 2 months old, with failure to thrive, hepatomegaly without cholestasis, polyuria and compensated metabolic acidosis. On admission, capillary blood glucose levels above 200 mg/dL were measured even without concomitant use of cort...

McCune Albright syndrome (MAS) is rare with a prevalence of 1 in 100,000 to 1 in 1,000,000, characterized by the triad of monostotic/polyostotic fibrous dysplasia (FD), café au lait skin pigmentation, and hyperfunctioning endocrinopathies caused by somatic activating mutations of the GNAS1 gene encoding the α subunit of guanine nucleotide-binding protein. Here we are reporting three cases of MAS who are actively being followed up in a leading Children’s Hosp...

Background: The mitochondrial enzyme nicotinamide nucleotide transidrogenase (NNT) is essential in the antioxidant defense mechanisms and appears to be essential to the stages of adrenal steroidogenesis that occur inside the mitochondria.Aim: To characterize how mutations in NNT gene impair adrenal steroidogenesis resulting in familial glucocorticoid deficiency (FGD).Methods: Genom...

Liquid chromatography associated with tandem mass spectrometry (LC-MS/MS) is currently considered the gold standard for steroid measurement. The aim of this study was to compare traditional immunoassay and LC-MS/MS methods for androgens measurement before and after human recombinant chorionic gonadotrophin (hrCG) stimulation in children with diagnosis of disorder of sex development (DSD) with 46,XY karyotype and past of normal testosterone secretion. We evaluated 19 patients, ...

Hypophosphatasia (HPP) is a rare, inherited, systemic disease caused by mutation(s) of the ALPL gene encoding tissue-nonspecific alkaline phosphatase (ALP), resulting in deficient ALP activity. Asfotase alfa is an enzyme replacement therapy approved for treatment of patients with pediatric-onset HPP. The global HPP Registry is an observational, prospective, multinational study (NCT02306720; EUPAS13514) established to collect real world clinical data from patients of a...

Background: Androgen Insensitivity Syndrome is a common form of 46,XY DSD. In the literature, 85–90% of patients with complete form of Androgen Insensitivity (CAIS) and 30% of patients with parcial form (PAIS) have the AR gene mutation identified, In most cases are found a missense mutation with aminoacid change. Mutations without aminoacid changes (silent mutations) are rarely related to human diseases and have never been identified in patients with CAIS.<p class="ab...

Background: Acromesomelic dysplasia Maroteaux type (AMDM) (OMIM 602875) is a rare autosomal recessive skeletal disorder with an approximate prevalence of 1/1,000,000) and characterized by severe dwarfism accompanied by shortness of distal and middle segments of extremities. Mutations in the NPR2 gene which encodes for the natriuretic peptide receptor B (NPR-B) is the underlying genetic cause of this disorder.Objective and hypotheses: Genetic con...

Background: Muscle is key to glucose metabolism. Myogenesis is completed in early infancy, partly under the inhibitory control of myostatin, a myokine whose actions can be influenced by follistatin. Early lowering of myostatin actions is thus a potential strategy to reduce the risk for later diabetes.Objective and hypotheses: We performed a first screening of whether such lowering is among the natural mechanisms whereby some human infants augment their l...

Background: A virus initially considered benign in this age group, SARS-COV-2 has recently been associated with Pediatric Multisystemic Inflammatory Syndrome (PIMS), temporarily associated with COVID-19, a syndrome whose diagnostic determination has a vital relevance since it imposes unfavorable outcomes. This study aims to describe the sociodemographic characteristics of PIMS in Brazil and the factors associated with death by this syndrome.<p class="abste...

Introduction: X-linked hypophosphatemic rickets (XLH) is characterized by a mineralization disorder in the growth plate and cortical and trabecular bones, resulting in bone deformities with anthropometric changes and potential alterations in body composition.Objective: To evaluate the body composition of 12 children and adolescents with XLH compared to healthy controls by anthropometric and densitometry data.<p class...