ESPE Abstracts

Background: An increase in the incidence of congenital hypothyroidism (CH) with a normally located gland has been reported worldwide. Affected individuals display transient or permanent CH during follow-up in childhood. We aimed to determine the prevalence of transient CH and to assess the possibility of distinguishing between transient and permanent CH in early infancy.Methods: This observational cohort study included all patients identified by systemat...

Background: Neonates born from mothers with Graves’ disease are at risk to develop hyperthyroidism due to placental transmission of TSH-receptor antibodies. Neonatal hyperthyroidism should be effectively diagnosed and treated to prevent severe complications of this disease (cardiac symptoms, poor weight gain, severe neurological manifestations).Objectives: To describe the post-natal follow-up of neonates born from women with Graves’ disease.</p...

Background: Patients with disorders of sex development (DSD) require multidisciplinary team management for etiology identification and gender assignment. Identification of mullerian structures is an important part of the evaluation process. Ultrasonography remains the first-line imaging modality to delineate mullerian structures; while the importance of magnetic resonance imaging (MRI) is insufficiently studied.Objective and hypotheses: To evaluate the d...

Background: The broad spectrum of associated diseases underlying the diverse phenotypes of patients with Turner syndrome (TS) has been extensively described. However, the underlying pathophysiological mechanisms remain unknown. Few studies have analyzed congenital and acquired diseases as a function of karyotype, and conflicting results have been obtained, calling into question the role of haploinsufficiency for genes located on the X chromosome.Objectiv...

Introduction: Thyroid hormone resistance (THR) is a rare disease (&ap; 1/50000) mainly due to thyroid hormone receptor beta gene (THRB) mutations, generally identified in late childhood and adulthood. We report 2 atypical cases of neonatal diagnosis of THR.Case 1: The newborn presented with neonatal respiratory distress due to a voluminous compressive goiter, requiring invasive ventilation. Thyroid function test...

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...

Background: Steroidogenic factor-1 (SF-1), denominated as nuclear receptor subfamily five group A member 1 (NR5A1), is an orphan receptor that regulates several steps of adrenal and gonadal development. Mutations in its gene are responsible for different phenotypes of disorders of sex development (DSD).Objective and hypotheses: To study the functional impact of two novel NR5A1 mutations, the p.C247* and p.K396Rfs*34, both identified within the l...

Background: Differential diagnosis between XY partial (PGD) and mixed gonadal dysgenesis (MGD) was initially established by histological evaluation; however, when there is a 45,X lineage there are differences not only in clinical aspects but also in prognosis.Objective and hypotheses: The aim of this work was to analyze clinical picture of patients with genital ambiguity due to testicular dysgenesis, with and without a 45,X lineage, and compare these con...

Background: Recent data describe that the gonads of patients with partial gonadal dysgenesis (PGD) and mutation in the NR5A1 gene can present with a different histological pattern.Objective and hypotheses: To evaluate histological aspects of PGD caused by NR5A1 mutations.Method: Five patients with PGD, a history of gonadal biopsy or gonadectomy and confirmed mutation on NR5A1 gene were selected from a Bra...

Background: Prader–Willi syndrome (PWS) is characterized by a switch in early childhood from failure to thrive to excessive weight gain and hyperphagia with impaired satiety. The underlying mechanism for this switch may involve hyperghrelinemia, but only poor data exists regarding levels of acylated ghrelin (AG), unacylated ghrelin (UAG), and the AG/UAG ratio in PWS.Objective and hypotheses: To investigate plasma levels of AG and UAG in PWS, compare...