ESPE Abstracts

Background: Adequate vitamin D level is essential for optimal child’s growth. Small for Gestational Age (SGA) is a common cause of short stature in childhood. Being born SGA is associated with a risk of developing insulin resistance.Objective and hypotheses: The aim of the study was to evaluate serum vitamin D levels in short children born SGA and appropriate for gestational age (AGA) and to assess their relationship with insulin sensitivity.<p ...

Background: Over the recent years there have been more and more cases with DM type 1 and thyroid autoimmune diseases.Objective: To study course of autoimmune thyroiditis in children and adolescents with DM type 1.Methods: From 758 children with DM type 1 we identified high risk cohort (thyroid gland palpation and clinical symptoms) and performed thyroid US and TSH, fT4, anti-TPO, anti-TG, and HbA1c testing. Cohort group,...

Background: Congenital hyperinsulinism (CH) is the most common cause of persistent hypoglycemia in neonatal period. The inadequate secretion of insulin leads to high morbidity and mortality in those newborns. Despite the recent progress in the diagnosis and management of CH, until recently, the situation in Brazil has been that of early 1990’s. The epidemiology is unknown and state-of-the art management has not been available.Objective and hypothese...

Background: Combined pituitary hormone deficiency (CPHD) is a condition that causes deficiency of several hormones produced by the pituitary gland. The first signs of this condition include a failure to grow at the expected rate and short stature that usually becomes apparent in early childhood. Other features of CPHD include hypothyroidism, delayed puberty, and deficiency of the hormonal cortisol. Some conditions may exacerbate the growth failure of CPHD. Osteogenesis imperfe...

Background: Levothyroxine monotherapy is the treatment of choice for congenital hypothyroidism (CH). Recently, it was reported that levothyroxine monotherapy cannot guarantee euthyroidism in all athyreotic adult patients. A more physiological treatment than levothyroxine monotherapy was suggested to be required in some patients with hypothyroidism.Objective and hypotheses: To elucidate whether levothyroxine monotherapy is appropriate for all children wit...

Background: 80–85% of cases of congenital hypothyroidism (CH) are shown to be due to thyroid dysgenesis, while 15–20% are due to dyshormonogenesis. At least 12 candidate genes are associated with congenital hypothyroidism (CH), however its molecular basis is defined in fewer than 10% of the patients (ESPE consensus, 2014). Recent studies suggest that using a next generation sequencing (NGS) approach may increase the mutation yield in CH.Objecti...

Background: Septo-optic dysplasia (SOD) is a rare congenital anomaly, clinically heterogeneous, combining optic nerve and pituitary gland hypoplasia, midline abnormalities of the brain, including absence of the corpus callosum and septum pellucidum. The diagnosis is made when two or more features of the classic triad are present. HESX1, SOX2, SOX3, FGF8, FGFR1, PROKR1, SHH, are implicated in the etiology of SOD.Objective and hypotheses: Description of a ...

Background: Classically adrenal insufficiency presents with hyponatraemia and hyperkalaemia, however the differential may be of alternative origin. Atopic dermatitis is a common inflammatory skin disease of infancy and childhood. In severe cases, the exudation from wet lesions can produce serious complications such as infection+very rarely electrolytes abnormalities as seen in this case.Case report: A 6-month-old female infant was referred for endocrine ...

Background: Infants with severe insulin resistance syndrome show failure to thrive.Objective and hypotheses: Effect of rhIGF1 treatment on growth in a patient with severe insulin resistance syndrome.Method: Case report.Results: The patient is a 4-years-old Caucasian girl of unrelated healthy parents. She was born after a 40 weeks gestation as a small for gestational age infant with a birth weight of 1970 g. A...

Background: Polycystic ovary morphology (PCOM) in USG should not be identified with polycystic ovary syndrome (PCOS) and it is not a criterion for diagnosis of this syndrome in adolescents.Objective and hypotheses: Assessment of the usability of 3D ultrasonography in diagnostics of androgen excess disorders.Method: 40 girls aged 14–18 with hyperandrogenism were subjected to endocrinological examinations and transrectal USG of ...