hrp0092p3-177 | Growth and Syndromes (to include Turner Syndrome) | ESPE2019

Endocrine and Mammary Disorders in Girl with Cornelia De Lange Syndrome (Case History)

Gumeniuk Olga , Chernenkov Yurii , Petrova Ekaterina , Leonovich Anastasiia

Cornelia de Lange syndrome is a genetic disorder with physical, cognitive, somatic and endocrine disorders. Objective. To study endocrine and mammary disorders in girl with Cornelia de Lange syndrome. Objective and hypotheses: We describe a clinical case of Cornelia de Lange syndrome in girl, 10 y.o.Method: Total examination (includingmammological and gynecological examination), hormonal analysis, thyroid, mammological and gynecological ...

hrp0084p3-1190 | Thyroid | ESPE2015

Two Patients with Allen–Herndon–Dudley Syndrome: a Novel Mutation on MCT8 Gene

Mutlu Gul Yesiltepe , Kirmizibekmez Heves , de Souza Elaine C Lima , Hatun Sukru , Visser Theo J

Background: Monocarboxylate transporter 8 (MCT8) is a specific transporter of triiodothyronine (T3). MCT8 gene mutations cause a rare X-linked disorder known as Allan–Herndon–Dudley syndrome, characterized by thyroid dysfunction (high T3, low T4, and normal/high TSH) and psychomotor retardation.Case report: A 4-year- and 9-month-old boy, who was already having L-T4 treatment fo...

hrp0089p3-p385 | Thyroid P3 | ESPE2018

Rare Case Report of Thyroiditis De Quervain in a Six Years Old Girl

Liapi Maria , Jorch Norbert , Hamelmann Eckard

Introduction: Subacute thyroiditis or De Quervain’s Thyroiditis is a self-limited inflammatory thyroid disease that is considered to be caused by a viral infection. Its incidence during the first decade of life is extremely rare. During the acute phase of the disease which lasts 2 to 6 weeks, the inflammatory process results in a temporary release of thyroid hormone with biochemical hyperthyroidism with or without symptoms. This phase is followed by a period with failing ...

hrp0098p3-213 | Pituitary, Neuroendocrinology and Puberty | ESPE2024

Koolen de Vries: a new associated malformation and an additional complex disease?

Félix Cabral Mafalda , Brazão Câmara Beatriz , Branco Caetano Francisco , Lopes Lurdes

Introduction: Complex diseases are defined by the interference of different genetic and environmental factors and the contribution of each factor is often hard to unravel. In this report, we present a case where different complex diseases intertwine.Case report: We report the case of a 12 month old girl who was addressed to the endocrinology department due to hypotonia and short stature. The pregnancy had been uneventful...

hrp0086p1-p919 | Thyroid P1 | ESPE2016

Etiology and Severity of Congenital Hypothyroid Children Detected through Neonatal Screening: A Cut-off based Analysis

Vieites Ana , Enacan Rosa , Gotta Gabriela , Junco Marcelo , Ropelato Gabriela , Chiesa Ana

Background: TSH cut-off (CO) levels has been lowered progressively in many screening programs. Nevertheless, population detected with lower CO levels differs in severity and etiology.Objective and hypotheses: To describe the etiological characteristics and severity of children detected by neonatal screening related to CO TSH levels.Method: We analysed the data of congenital hypothyroidism (CH) neonatal screening performed between J...

hrp0084p3-770 | Diabetes | ESPE2015

Particularités de la prise en charge du diabète Type 1 chez des enfants dont la révélation est survenue avant l’âge de five ans

Wafaa Mazari , Khadidja Bouriche , Djawida Senouci , Yasmine Zerga , Snaa Chiali , Salih Bendeddouche

Introduction: Le diabète de type 1 est l’endocrinopathie la plus fréquente chez l’enfant. Son incidence est en nette progression dans le monde. L’enfant diabétique nécessite une hygiène de vie adaptée et le suivi par une équipe pluridisciplinaire composée de pédiatre spécialiste en diabétologie, psychologue, diététicien, infirmier spécialisé.Objectif: Determiner les...

hrp0082p2-d2-473 | Growth (1) | ESPE2014

GH Deficiency in a Child With De Novo 2q31.1 Microdeletion

Kaloumenou Irene , Karachaliou Feneli , Vlachopapadopoulou Elpis-Athina , Fotinou Aspasia , Michalacos Stefanos

Background: The clinical phenotype of the chromosome 2q31 deletion syndrome consists of a variety of limb abnormalities and other skeletal defects, craniofacial dysmorhic features, developmental delay, and other not specific congenital anomalies.Objective and hypotheses: To describe a patient with 2q31.1 microdeletion syndrome and short stature, diagnosed with GH deficiency.Method: We describe a 5 years and 4 months girl with devel...

hrp0084p1-160 | Miscelleaneous | ESPE2015

Septo-Optic Dysplasia Associated with Koolen-de Vries Syndrome: A Case Report

Aroyo Ani , Stoeva Iva , Stancheva Gergana , Koleva Reni , Kaneva Radka

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 ...

hrp0098fc15.3 | Late Breaking | ESPE2024

Assessment of actionable secondary genetic findings in a large cohort of children with short stature

Carneiro Rezende Raissa , Liberatoscioli Menezes de Andrade Nathalia , de Polli Cellin Laurana , Maria Santillan Ana , da Cunha Scalco Renata , Augusto de Lima Jorge Alexander

Introduction: Genetic investigation in patients with short stature allows diagnostic definition and impacts therapeutic decisions, clinical follow-up, and genetic counseling. That said, next-generation sequencing has created a new clinical challenge by allowing the identification of findings unrelated to the complaint that prompted testing. The ACMG published a list of actionable incidental findings that includes genes whose variants should be reported to pati...

hrp0095p1-285 | Fat, Metabolism and Obesity | ESPE2022

Nutritional disparities among Brazilian children: study of the temporal trend of the BMI from 2010 to 2021.

Machado Pinto Renata , Carvalho Lima Vitor , Marinho de Jesus Luciana , Barreira Duarte de Sousa Mariana , Paulo do Carmo Assunção Marcos , Lima Mutão Stival Nicolle , Oliveira Vaz Tiago

Introduction: The Body Mass Index (BMI) is an essential indicator for the nutritional assessment of children and reflects the exposure to health conditions that are harmful to the development of this population.Objective: To analyze the temporal trend of the BMI of Brazilian children, 0 to < 10 years old from 2010 to 2021.Methods: Descriptive ecological study. Data obtained from...