ESPE Abstracts

ESPE Abstracts

Published by BioScientifica

Page 20 of about 1940 results

hrp0095p1-507 | Growth and Syndromes | ESPE2022

Vosoritide Improves Growth in Noonan Syndrome and Patients with NPR2 Mutations

Objectives: Vosoritide is a C-type natriuretic peptide (CNP) analog which binds its receptor on chondrocytes, leading to increased chondrocyte proliferation and differentiation via its inhibition of the ERK1/2-MAPK pathway. Rasopathies, including Noonan Syndrome, lead to increased signaling through this pathway. NPR2 encodes the receptor for CNP and heterozygous mutations in NPR2 account for ~2% of cases of idiopathic short stature.<p class="abste...
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hrp0082p2-d3-617 | Turner Syndrome | ESPE2014

Early Occurrence of Gonadoblastoma Found at Elective Gonadectomy in Turner Syndrome Mosaic for Y Chromosome

MacMahon J , Morrissey R , McDermott M , O'Sullivan M , Quinn F , Green A , Lynch S A , O'Connell S M

Background: Turner syndrome (TS) is one of the most common genetic disorders in females and occurs in phenotypic females who are missing all or part of one sex chromosome. While the most common mosaic forms of the disorder are 45,X/46,XX and 45,X/46,Xiq, mosaicism for cells containing Y chromosome material is well documented.Objective and hypotheses: Owing to increased risk of gonadoblastoma (GB), current recommendations are for elective gonadectomy foll...
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hrp0084p3-788 | DSD | ESPE2015

Persistent Müllerian Duct Syndrome Associated with Anorchia Caused by a Compound Heterozygous Mutation in the AMHR-II Gene

Rojo Jaime Cruz , Lorenzo Lucia Garzon , Fernandez Jone Agirregoitia , del Pozo Cristina Martinez , Picard Jean-Yves , del Pozo Jaime Sanchez

Background: The persistent Müllerian duct syndrome (PMDS) is a rare 46-XY disorder of sex development, characterized by the persistence of Müllerian derivatives (uterus, Fallopian tubes) in otherwise normally virilised males. The condition is transmitted as a recessive autosomal trait and is caused in most cases by a defect in either the anti-Müllerian hormone (AMH) or the AMH type-II receptor (AMHR-II) genes.Case report: We present a 9 ye...
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hrp0084p3-1034 | Growth | ESPE2015

Birth Characteristics Influence the Male to Female Diagnostic Prevalence of Idiopathic GH Deficiency

Camacho-Hubner Cecilia , Lindberg Anders , Arnhold Ivo J P , Ranke Michael B

Background: A greater number of male (M) vs female (F) patients are diagnosed with GH deficiency (GHD). M have larger birth weight (BW), length and head circumference (HC) compared to F; these characteristics could contribute to subtle cephalo-pelvic disproportion and mild head trauma possibly contributing to idiopathic GHD (IGHD) and multiple pituitary hormone deficiencies (MPHD).Objective: To determine birth characteristics including mode of delivery a...
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hrp0095p1-317 | Growth and Syndromes | ESPE2022

Effects of combined treatment with rhIGF-I and metreleptin in a girl with the severe insulin resistance Rabson-Mendenhall syndrom

Genthner N. , Rakicioglu H. , Karatsiolis P. , Wudy SA , Kamrath C.

We present the case of a now 11 years old girl with the ultra-rare severe insulin resistance Rabson-Mendenhall syndrome due to the previously undescribed compound heterozygous mutations exon 16: c.2986A>G (Paternal) and intron 9: c.2029+1G>T (maternal) of the insulin receptor gene. The phenotypic findings were composed of dystrophy (birth weight 1970g, small for gestational age), hyperglycemia (up to 400mg/dl), severe acanthosis nigricans and mild cardiac septal hyperpla...
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hrp0092fc11.1 | Pituitary, Neuroendocrinology and Puberty Session 2 | ESPE2019

Phenotypic Characterization of a Large Pediatric Cohort of Patients with Genetic Forms of Congenital Hypopituitarism

Cionna Cecilia , Cerbone Manuela , Gregory Louise C , Dattani Mehul T

Background: Genetic variants are identified in a small proportion (~10%) of patients with Congenital Hypopituitarism (CH), with variable associated phenotypes. We aimed to phenotypically characterise a large cohort of patients with genetically proven CH.Patients and methods: 1684 CH patients were screened (Sanger or whole exome sequencing) over a 20-year period (1998-2018) for mutations in genes regulating pitui...
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hrp0089p2-p277 | Growth &amp; Syndromes P2 | ESPE2018

Pulling the Brakes – ‘Catch Down Growth’: A Phenomenon for Achieving Mid-parental Height Centile After Acquired, All-cause, Brain Injury

Kraus Fabian B T , Hindmarsh Peter C , Spoudeas Helen A

Introduction: Of any pituitary dysfunction following brain injury, growth hormone (GH) deficiency (GHD) is the most prevalent. The cut-point for defining GHD has been placed at 7 ng/mL representing optimum test performance. We hypothesised this cut-off may be set too low for genetically taller children with acquired brain injury, notably brain tumours, who demonstrate severe growth failure but repeatedly fail to meet diagnostic thresholds for GH replacement until several centi...
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hrp0084p3-1234 | Turner | ESPE2015

Cardiovascular Assessment in Turner Syndrome: Current Practice in the United Kingdom

Mason A , Smyth A , Ahmed S F , Wong S C

Background: In 2007, the Turner syndrome (TS) Consensus Study Group developed an international guideline for clinical care of girls and women with TS. Given emerging concerns of long term cardiovascular complications, the consensus recommends that cardiac MRI should be performed when girls are old enough to tolerate the procedure or at the time of transition and to be repeated at least every 5–10 years.Method: We conducted a survey of cardiovascular...
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hrp0089p1-p024 | Adrenals and HPA Axis P1 | ESPE2018

Gonadotropin-Dependent Pubertal Disorders are Common in Patients with Virilizing Adrenocortical Tumors in Childhood

Stecchini Monica F , Braid Zilda , More Candy B , Aragon Davi C , Castro Margaret , Moreira Ayrton C , Antonini Sonir R

Background: In pediatric patients with adrenocortical tumors (ACT), morbidity and mortality rates have been extensively evaluated. However, there are almost no data on the late consequences of early exposure to high androgen levels on pubertal development and on final height (FH) in these patients.Objective: To investigate the impact of early exposure to androgen excess on gonadotropin-dependent pubertal development and on final height (...
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hrp0084p3-887 | Fat | ESPE2015

Sports Regulated and Lipid Profile in Children and Adolescents with Overweight

Trabazo Rosaura Leis , Cobela Rocio Vazquez , Garcia Concepcion Aguilera , Lozano Gloria Bueno , Meneses Josune Olza , Campos Mercedes Gil , Carpente Juan Jose Bedoya , Feijoo Lidia Castro , Aznar Luis Moreno , Hernandez Angel Gil

Introduction: Obesity is the most common nutritional disorder in the paediatric age. Decreased physical activity and increased inactivity are important factors that are involved in this pandemic. The highest prevalence of obesity in Europe is in the South.Objective: To study the relationship between the practice of a regulated sport and lipid profile in overweight children and adolescents.Material and methods: 318 overweight childr...
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