hrp0086p1-p726 | Pituitary and Neuroendocrinology P1 | ESPE2016

Time Course of Central Precocious Puberty Development Caused by an MKRN3 Gene Mutation: A Prismatic Case

Stecchini Monica , Macedo Delanie , Reis Ana Claudia , Abreu Ana Paula , Moreira Ayrton , Castro Margaret , Kaiser Ursula , Latronico Ana Claudia , Antonini Sonir

Background: Loss-of-function mutations in the imprinted gene MKRN3 represent the most common known genetic defects associated with central precocious puberty (CPP). The penetrance of these mutations remains to be established. To date, all reported individuals with MKRN3 mutations were already in puberty or postpubertal and were identified retrospectively.Objective and hypotheses: To report the first case of a prepubertal child with an MKRN3 muta...

hrp0086p1-p799 | Syndromes: Mechanisms and Management P1 | ESPE2016

NPR2 Gene Mutations Associated with Acromesomelic Dysplasia Maroteaux Type are Mostly Unique to Families

Castro-Feijoo Lidia , Barreiro Jesus , Guillen-Navarro Encarna , Journel Hubert , Wakeling Emma , Jagadeesh Sujatha , LeMerrer Martine , Silva Paula , Cabanas Paloma , Pombo Manuel , Loidi Lourdes

Background: Acromesomelic dysplasia Maroteaux type (AMDM) (OMIM 602875) is a rare autosomal recessive skeletal disorder with an approximate prevalence of 1/1,000,000) and characterized by severe dwarfism accompanied by shortness of distal and middle segments of extremities. Mutations in the NPR2 gene which encodes for the natriuretic peptide receptor B (NPR-B) is the underlying genetic cause of this disorder.Objective and hypotheses: Genetic con...

hrp0082p2-d2-549 | Puberty and Neuroendocrinology (1) | ESPE2014

Evaluation of Age at GnRH Analogue Treatment Discontinuation, Age at Menarche and Adult Height in Girls with Central Precocious Puberty from the Spanish Registry

Corripio Raquel , Soriano-Guillen Leandro , Canete Ramon , Castro-Feijoo Lidia , Escribano Arancha , Espino Rafael , Herrero-Espinet Javier , Labarta Jose-Ignacio , Argente Jesus

Background: The Spanish Registry PUBERE was created (2007) with 53 hospitals.Objective and hypotheses: i) To determine the chronological age (CA) and bone (BA) at GnRH analogue withdrawal; ii) to analyze the age at menarche and time elapsed after stopping treatment; and iii) to know adult height data.Method: Patients with central precocious puberty (CPP) born after 1992, diagnosed before 8 years in girls, with BA/CA >1 year and...

hrp0098rfc8.5 | Adrenals and HPA Axis 2 | ESPE2024

Mitochondrial Nicotinamide Nucleotide Transidrogenase (NNT) and NNT-AS1 impairment is associated with worse outcomes in patients with adrenocortical tumors

Faccioli Bodoni Aline , Gutierrez Junier , Gebenlian Juliana , Coeli Laccini Fernanda , Carolina Bueno Ana , Zorzetto Vencio Ricardo , de Castro Margaret , Antonini Sonir

Background: Deregulation of oxidative stress and accumulation of reactive oxygen species are metabolic factors that may affect tumor behavior. New recent insights revealed that the inner mitochondrial protein Nicotinamide Nucleotide Transidrogenase (NNT) is essential in the antioxidant defense mechanisms in the adrenal cortex. Studies have shown that long non-coding RNAs (lncRNAs) are important in cancer regulation. Recent studies demonstrated that lncRNA NNT-...

hrp0098p1-184 | Pituitary, Neuroendocrinology and Puberty 3 | ESPE2024

Assessment of hypogonadotropic hypogonadism using a gonadotropic-gonadal stimulation test with subcutaneous Triptorelin: preliminary results.

Freire Analía , Arcari Andrea , Gabriela Ballerini María , Grinspon Romina , Castro Sebastian , Eugenia Rodriguez María , Gryngarten Mirta , Keselman Ana , Braslavsky Débora , Bergadá Ignacio , Rey Rodolfo , Gabriela Ropelato María

Introduction: Comprehensive evaluation of the gonadotropic axis, including pituitary and gonadal assessment, using a diagnostic test with aGnRH (Triptorelin) could be useful in the differential diagnosis between hypogonadotropic hypogonadism (HH) and self-limited delayed puberty (SLDP) or amenorrhea of unknown cause.Objective: To assess the performance of the Triptorelin test for the diagnosis of HH and to compare it wit...

hrp0098p2-385 | Late Breaking | ESPE2024

Integrating Genetic Testing in the Evaluation of Boys with Central Precocious Puberty: A Portuguese Nationwide Study

Galo Elisa , Vidal Castro Sofia , Amaral Daniela , Espada Filipa , Brandão Carla , Luísa Leite Ana , Ferreira Sofia , Caetano Francisco , Cerqueira Rita , Limbert Catarina

Introduction: Precocious development of secondary sexual characteristics in both sexes indicates early reactivation of the hypothalamic-pituitary-gonadal axis, known as central precocious puberty (CPP). CPP should be considered in males under nine years old when testicular volume exceeds 4 milliliters. This condition is rare (1 male per 15 girls), and secondary causes must be promptly excluded due to the higher likelihood of intracranial pathology. Recent stud...

hrp0095p2-202 | Multisystem Endocrine Disorders | ESPE2022

AgRP neurons mediate sex differences in response to the activity-based anorexia model

Consolata Miletta Maria

Anorexia nervosa (AN) is a multifaceted and debilitating illness characterized by self-induced starvation, persistent anxiety about weight gain, preoccupation with body image, and maladaptive food choices. It is characterized by the disruption in homeostatic energy balance mechanisms and the persistence of homeostatic hunger is overridden by dysfunctional self-regulatory and reward pathways that drive food aversion and severely restrict food intake. Epidemiological studies hav...

hrp0092p2-124 | Fat, Metabolism and Obesity | ESPE2019

Markers of Bone Metabolism in Obese Children and Adolescents

Kovalenko Tatiana , Larionova Maria

Relevance: Evaluation of bone metabolism is a new scientific direction in the study of the long-term effects of childhood obesity.Objective: To study markers of bone metabolism in children and adolescents with obesity.Materials and Methods: 74 children with overweight and obesity in accordance with the WHO criteria and 25 healthy children with an average age of 15.4[11.6;19.2] year...

hrp0082s2.2 | Endocrine Cancer Syndromes: An Update | ESPE2014

MEN1 in Children and Adolescents

Brandi Maria Luisa

Background: MEN1 is an autosomal dominant disorder that is due to mutations in the tumor suppressor gene MEN1, which encodes a 610-amino acid protein, menin. MEN1 is characterized by the occurrence of parathyroid, pancreatic islet, and anterior pituitary tumors. The prognosis for MEN1 patients might be improved by presymptomatic tumor detection and undertaking treatment specific for MEN1 tumors.Objective and Hypotheses: Genetics is increasingly becoming ...

hrp0082p3-d3-689 | Bone (2) | ESPE2014

Vitamin D Levels in Short Prepubertal Children Born Small for Gestational Age

Korpal-Szczyrska Maria

Background: Adequate vitamin D level is essential for optimal child’s growth. Small for Gestational Age (SGA) is a common cause of short stature in childhood. Being born SGA is associated with a risk of developing insulin resistance.Objective and hypotheses: The aim of the study was to evaluate serum vitamin D levels in short children born SGA and appropriate for gestational age (AGA) and to assess their relationship with insulin sensitivity.<p ...