hrp0092rfc8.4 | Pituitary, Neuroendocrinology and Puberty Session 1 | ESPE2019

Evaluation of Puberty in Patients with Noonan Syndrome and Mutations in the RAS/MAPK Genes

Malaquias Alexsandra C. , Noronha Renata M , Homma Thais K , Albuquerque Edoarda V A , Bertola Debora R , Jorge Alexander A L

Background: Noonan syndrome (NS) is a rare genetic disease characterized by facial dysmorphism, short stature, heart defects, chest deformities, and variable developmental delay/learning disabilities. Almost 80% of patients have a mutation in the genes encoding components of the RAS/MAPK pathway. Puberty was described as delayed in NS patients, but few studies are focusing on this subject and genotype-phenotype correlations so far.<s...

hrp0089fc15.4 | Growth and Syndromes | ESPE2018

The Metabolic Profile Associated with RASopathies

Noronha Renata , Homma Thais , Moraes Michelle , Albuquerque Edoarda , Funari Mariana , Pereira Alexandre , Villares Sandra , Bertola Debora , Jorge Alexander , Malaquias Alexsandra

Background: Noonan syndrome (NS) is a frequent autosomal dominant disorder characterized by facial dysmorphisms, heart defects, short stature and learning disabilities. It is caused by mutations in genes within the RAS/MAPK signaling pathway, thus called RASopathies. The RAS/MAPK pathway can also impact the signal transduction of hormones involved in body weight, carbohydrate, and lipid metabolism features scarcely studied only in animal models. This study aimed to describe me...

hrp0086p2-p796 | Pituitary and Neuroendocrinology P2 | ESPE2016

Severe Juvenile Hypertrophy of the Breast with Hypercalcaemia; Mastectomy v’s Reduction Surgery

McGregor David , Candler Toby , Selby Georgina , Crowne Liz , Rayter Zenon

Background: A 10 year old girl with a background history of severe autism and developmental delay presented with significant and rapidly progressive asymmetrical breast enlargement accompanying her relatively rapid progress through puberty. There was associated tissue breakdown exacerbating her discomfort and leading to increasing problems with anxiety and behaviour.Objective and hypotheses: To explore the aetiology of the huge breast development and the...

hrp0092p3-156 | Growth and Syndromes (to include Turner Syndrome) | ESPE2019

Growth Status of Children and Adolescent Born Full Term Small-for-Gestational-Age in Korea: Data from the KNHANES-V (2010–2011)

Kim Ji Hyun , Kim Dong Ho , Lim Jung Sub

Background: Currently, little information is available on current growth status according to birth weight at gestational age (BWGA) on Korean adolescents. Herein, the current height and weight of Korean adolescents who were born as small for gestational age (SGA) were compared to those of the non-SGA groups.Methods: Data from the population-based nationwide Korean survey 5th Korea National Health and Nutrition Examinatio...

hrp0086wg5.4 | ESPE Diabetes Technology and Therapeutics Working Group | ESPE2016

Use of Dual Hormone (Glucagon) v. Single Hormone (Insulin) in the Treatment of Diabetes with Close-loop System

Nimri Revital

Background: Blood glucose levels are physiologically controlled by insulin and counter-regulatory hormones, mainly glucagon. Type 1 diabetes patients are deficient in insulin and some level also glucagon. Therefore, bi-hormonal closed-loop system seems to be the best way to control glycemia.Objective and hypotheses: There are two main approaches to add glucagon: (a) as safety measures for rescue in case of hypoglycemia (2) as a mean to optimize metabolic...

hrp0092p1-100 | Pituitary, Neuroendocrinology and Puberty | ESPE2019

RNPC3 Mutations Associate Prolactin Deficiency and Ovarian Insufficiency, Expanding the Phenotype Beyond Isolated Growth Hormone Deficiency Type V (MIM#618860)

Martos-Moreno Gabriel Á. , Travieso-Suárez Lourdes , Pozo Jesús , Chowen Julie , Pérez-Jurado Luis A. , Argente Jesús

Background: The first three children reported to have biallelic mutations in RNPC3 presented with growth hormone (GH) deficiency and pituitary hypoplasia (MIM#618860). RNPC3 codes for a minor spliceosome protein required for U11/U12 small nuclear ribonucleoprotein formation and splicing of U12-type introns. The underlying mechanism causing GH deficiency in these patients is not fully understood. Moreover, whether the association of further ho...

hrp0082np1.1 | Micro-RNAs in Health and Diseases | ESPE2014

Non Coding RNA’s: Introduction to Non-Coding RNAs and the Role of MicroRNAs in GnRH Neurons

Prevot V

Fertility and puberty onset are controlled within the brain by a neural network that drives the secretion of gonadotropin-releasing hormone (GnRH) from hypothalamic neuroendocrine neurons. During postnatal development, various permissive signals must be integrated for the initiation of sexual maturation but the molecular events that orchestrate the timely activation of the GnRH neurons remain a major unsolved biological mystery. Increasing evidences point out Micro-RNAs (miRNA...

hrp0086wg4.2 | ESPE Bone and Growth Plate Working Group (BGP) | ESPE2016

Hypercalcaemic Disorders in Children

Thakker Rajesh V.

Hypercalcaemic disorders in children may present with poor feeding, hypotonia, lethargy, dehydration, vomiting, polyuria, failure to thrive, seizures and hypertension. The causes of hypercalcaemia in children, which can be classified as parathyroid hormone (PTH)-dependent or PTH-independent, are similar to those occurring in adults except that primary hyperparathyroidism and malignancy which the most common causes in adults, and account for >90% of adult patients with hype...

hrp0082s4.3 | Recent Advances in Our Understanding of Hypothyroidism | ESPE2014

Novel Insights into Thyroid Hormone Resistance

Chatterjee V K K

Resistance to thyroid hormone mediated by defective TRβ (RTHβ) or TRα(RTHα).Separate genes (THRA, THRB) undergo alternate splicing, generating nuclear receptors (TRα1, TRβ1, TRβ2) with distinct tissue distributions, which mediate thyroid hormone action; the function of a non-hormone binding protein (α 2), derived from the THRA locus, is unknown.RTHβ a dominantl...

hrp0089p2-p051 | Bone, Growth Plate &amp; Mineral Metabolism P2 | ESPE2018

Bone Marrow Adiposity and IGF System in Obese Children and Adolescents

Darrigo Emiliana , Sader Soraya , Siena Thais , Nogueira-Barbosa Marcelo , Elias Jr. Jorge , Custodio Rodrigo , Ferraz Ivan , Liberatore Jr. Raphael , Del Ciampo Luiz , Jose Albuquerque de Paula Francisco , Martinelli Jr Carlos

Background: Body weight has a close correlation with bone mass in humans and high fracture rates has been reported in both obese and underweighted individuals. It is not clear the role of bone marrow adiposity (BMA) and the IGF system in this process.Aim: The aim of this study was to analyze bone composition and BMA in obese and non-obese children/adolescents and correlate them with the expression of the IGF type-1 receptor (IGF1R) in peripheral lymphocy...