hrp0092rfc8.2 | Pituitary, Neuroendocrinology and Puberty Session 1 | ESPE2019

Investigation of Imprinting Alterations in MKRN3 and DLK1 in a Cohort of Girls with Central Precocious Puberty Through Specific DNA Methylation Analysis

Canton Ana , Steunou Virginie , Brito Vinicius , Laure Sobrier Marie , Montenegro Luciana , Bessa Danielle , Mendonca Berenice B , Netchine Irène , Latronico Ana Claudia

Background: Loss of imprinting has been implicated in the pathogenesis of several human diseases. Monogenic causes of central precocious puberty (CPP) were identified in families with loss-of-function mutations in two paternally expressed imprinted genes: Makorin zinc finger 3 (MKRN3) and Delta-like 1 homolog (DLK1). The role of imprinting defects in CPP has not been described so far.Objective: To inves...

hrp0089rfc9.1 | Pituitary, Neuroendocrinology and Puberty 1 | ESPE2018

Clinical and Genetic Features of Central Precocious Puberty Associated with Complex Phenotypes

Canton Ana , Brito Vinicius , Montenegro Luciana , Ramos Carolina , Macedo Delanie , Bessa Danielle , Cunha Marina , Jorge Alexander , Mendonca Berenice , Latronico Ana Claudia

Background: Idiopathic central precocious puberty (CPP) is mostly described as an isolated entity. A few studies have shown its association with clinical syndromes and rare cases of chromosomal abnormalities.Objective: To clinically characterize patients with CPP, pointing out prevalent associated conditions and phenotypes.Patients and Methods: One hundred and forty-five patients with idiopathic CPP were retrospectively evaluated. ...

hrp0082p3-d3-698 | Bone (2) | ESPE2014

TSH/fT4 Ratio as a Marker of TSH Resistance in Pseudoparathyroidism 1A and Obesity

Alimi Aurelia , Rodrigue Danielle , Linglart Agnes , De Filippo Gianpaolo

Introduction: Gsα is imprinted in human thyroid glands and this appears to be important in the development of moderate TSH resistance in pseudohypoparathyroidism (PHP) 1A and less severe TSH resistance in some, but not all, other forms of PHP. Obesity is a clinical condition in which subclinical alterations of thyroid function have been reported, although the relationship between thyroid status and obesity remains unclear. It is uncertain if this biochemical abnormality m...

hrp0082wg6.4 | Turner | ESPE2014

Motor Performance in Turner Syndrome

van Alfen Janielle

The aim of this presentation is to give an overview of motor disabilities in girls with Turner syndrome (TS), the impact on daily life and suggestions for treatment.Girls with TS show substantially lower performance in gross and fine motor function tests and motor milestones are achieved relatively late. Moreover, girls with TS frequently encounter problems in specific motor functioning i.e. oral-motor and visual-motor coordination, motor learning and pr...

hrp0092p1-223 | Growth and Syndromes (to include Turner Syndrome) (1) | ESPE2019

Tall Stature and Macrodactyly of the Great Toes Due to a Novel Mutation in the Natriuretic Peptide Receptor-2 Gene

Lauffer Peter , van Duyvenvoorde Hemine , van Haeringen Arie , van der Kaay Danielle

Background: Mutations in the gene encoding the natriuretic peptide receptor-2 gene (NPR2) are responsible for monogenic growth disorders. Loss-of-function variants cause extreme short stature and skeletal dysplasia. Gain-of-function mutations cause tall stature with - in some cases - macrodactyly of the great toes, a Marfanoid habitus, arachnodactyly and scoliosis. We describe a novel gain-of-function mutation in exon 8 of NPR2 in a family wi...

hrp0089p2-p384 | Thyroid P2 | ESPE2018

Graves’s Disease During Pregnancy: The Impact on the Fetus and the Newborn

Belin Florine , Rodrigue Danielle , Claire Claire , Bouvattier , Teinturier Cecile , Fouati Khadidja , Linglart Agnes , Lambert Anne-Sophie

Introduction: Graves’s disease is frequent in women, its prevalence being 0.5–2% and its incidence 0.1–1% during pregnancy. Both TSH anti-receptor antibodies and the synthetic antithyroid drugs cross the placenta, increasing the risk of hypo- and/or hyperhtyroidism. Our objective is to describe the thyroid status of fetus and newborns from women with Graves’s disease referred to our Department.Materials and methods: We included childr...

hrp0086rfc13.3 | Management of Obesity | ESPE2016

Effects of Eating Rate on Satiety Hormones, Meal Enjoyment and Memory for Recent Eating: An fMRI Study

Hawton Katherine , Hamilton-Shield Julian , Toner Paula , Ferriday Danielle , Rogers Peter , Hinton Elanor

Background: Controlling eating rate may be a mechanism for reducing calorie consumption. We need to understand the physiological basis of this to design effective paediatric interventions.Objective and hypotheses: This study investigated the effect of eating rate during lunch on post-meal neural response (fMRI), satiety hormone levels, appetite ratings (VAS), meal enjoyment, memory for recent eating and snack consumption.Method: Tw...

hrp0086p1-p888 | Thyroid P1 | ESPE2016

“Semi-Hot” Thyroid Nodules Associated with GNAS Mutations in Three Adolescents

Lambert Anne Sophie , Rodrigue Danielle , Papin Jean Francois , Linglart Agnes , Bougneres Pierre

Background: Hot thyroid nodules are uncommon in children and adolescents. Hyperfunctioning adenoma do not always produce hyperthyroidism, but can precede the apparition of a truly toxic adenoma. Autonomous adenoma can be associated with mutations of TSH-R and some mutations of GNAS.Patients: Patient 1 presented mild clinical hyperthyroidism. Patients 2 and 3 were asymptomatic and had clinical euthyroidism. Examination revealed a unique isolated thyroid n...

hrp0086p2-p955 | Thyroid P2 | ESPE2016

Lack of Catch Up Growth in Severe Hashimoto Thyroiditis (HT) in Young Children

Vincent Audrey , Rodrigue Danielle , Teinturier Cecile , Bouvattier Claire , Bougneres Pierre , Linglart Agnes

Background: Profound hypothyroidism due to Hashimoto thyroiditis (HT) is a cause of severe growth arrest in children. Although it is commonly thought that thyroxine replacement fully restores height deficit, no data on catch up growth are available.Objective and hypotheses: Assess the growth pattern and final height in a series of 10 patients with severe HT afec L-thyroxine therapy was initiated.Method: Monocentric retrospective ob...

hrp0082p2-d3-556 | Puberty and Neuroendocrinology (2) | ESPE2014

Long Term Outcomes of Precocious Puberty due to Hypothalamic Hamartomas

Rodrigue Danielle , Thomas-Teinturier Cecile , Motte-Signoret Emmanuelle , Bougneres Pierre , Linglart Agnes

Background: Hypothamamic hamartomas (HH) are rare benign tumours of the tuber cinereum revealed by central precocious puberty (CPP) and, in some cases, gelastic seizures and cognitive impairment.Objective and hypotheses: Evaluation of the treament by GnRH analogues on control of puberty and final height in patients with HH.Method: We report a series of five cases of CPP secondary to HH (four girls and one boy). Early in infancy (9 ...