hrp0098p3-152 | Growth and Syndromes | ESPE2024

Unusual case of Noonan or Turner Syndrome – Why not think about Escobar Syndrome?

Navarro da Cunha Beatriz , Hoelz Tellini Toledo Arthur , de Polli Celin Laurana , Rosa Pelliciari Caroline , Santili Cláudio , A. L. Jorge Alexander , C. Malaquias Alexsandra

Background: Escobar Syndrome (ES; OMIM #265000) is a rare condition falling under the spectrum of Multiple Pterygium Syndromes (MPS). MPS encompasses a group of congenital anomaly disorders characterized by features such as neck, elbows, and knee webbing alongside joint contractures (arthrogryposis). ES, specifically, represents a non-lethal variant stemming from homozygous or compound heterozygous mutations in the CHRNG gene. Noteworthy characteristics includ...

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...

hrp0086p1-p909 | Thyroid P1 | ESPE2016

Identification of a “Cryptic” De Novo Deletion in NKX2.1 in the Brain-Lung-Thyroid Syndrome using Genomic SNP Arrays

Villafuerte Beatriz , de Benito Daniel Natera , Lacamara Nerea , Garcia Marta , Lumbreras Cesar , de Randamie Rajdee , Nevado Julian , Moreno Jose Carlos

Background: Genetic defects in NKX2.1 (chromosome 14q13) are associated with hypothyroidism, choreo-athetotic movements and respiratory distress, known as the “Brain-Lung-Thyroid syndrome”.Objective and hypotheses: To identify the genetic basis of a disorder compatible with the “NKX2.1 syndrome” and extra features outside the typical triad.Patients and methods: 10-year old girl with congenital ...

hrp0092p1-291 | Thyroid (1) | ESPE2019

An Incidental Finding of Thyroid Hormone Resistance Due to a De Novo Mutation in the THRB Gene

Averbuch Noa Shefer , França Monica , Lazar Liora , Tenenbaum Ariel , Phillip Moshe , de Vries Liat

Background: Thyroid hormone resistance (THR) is a rare genetic disorder that may be caused by thyroid hormone (TH) cell transporter defects or metabolism defects, but most cases are caused by an inherited mutation in the TH receptor beta (THRB) gene. The reduced responsiveness of target tissues to TH is characterized by elevated TH and a normal or elevated thyroid-stimulating hormone (TSH) level. Differentiating between THR and TSH-producing pituitary...

hrp0092p1-229 | Growth and Syndromes (to include Turner Syndrome) (1) | ESPE2019

"Endocrine Evaluation of 29 Cornelia de Lange Syndrome Patients (CdLS) Patients"

Matamala Angela Marina Ascaso , de Ávila Montoya José Mario Romero , Cereza Maria Teresa Llorente , Lidón Laura Trujillano , Fuentes Feliciano Ramos , Juste Juan Pie , Lozano Gloria Bueno

Background: Cornelia de Lange (CdLS) syndrome (OMIM #122470) is a complex disease, characterized by distinctive facial features, failure to thrive, microcephaly, intrauterine growth retardation and anomalies in multiple organ systems. The complexity and severity of the endocrine commitment is variable. NIPBL, SMC1A, SMC3, RAD21 and HDAC8 genes, all involved in the cohesin pathway, have been identified to cause CdLS. There are few published studies on the endoc...

hrp0094p2-329 | Growth and syndromes (to include Turner syndrome) | ESPE2021

Cornelia de Lange syndrome: a case report

KARROU Marouan , Derbel Salma , Assarrar Imane , Messaoudi Najoua , Benouda Siham , Rouf Siham , Latrech Hanane ,

Introduction: CORNELIA DE LANGE Syndrome (CdLS) is a rare syndrome, first described in 1933 by the Dutch pediatrician CORNELIA DE LANGE. This syndrome represents a multi-systemic disorder with physical, cognitive and behavioral characteristics. It is evident in the typical or classical form (craniofacial appearance, short stature and limbs deformities). However, not all individuals with CdLS present with the classic phenotype, as the clinical presentation can ...

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 ...

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...

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...