hrp0084p3-985 | Gonads | ESPE2015

Age at Menarche in Chronic Respiratory Disease: Cystic Fibrosis and Asthma – Comparison with a Large Cohort of Healthy Girls Living in Verona

Gaudino Rossella , Volpi Sonia , Ben Sarah Dal , Piona Claudia , Cavarzere Paolo , Boner Attilio , Antoniazzi Franco

Background: Menarche is a milestone in human sexual development as it denotes the achievement of fertility. Few studies have evaluated the age at menarche (AAM) in chronic respiratory disease.Objective: The main aim of this study is to investigate AAM and menarcheal determinants in girls affected by Cystic Fibrosis or Asthma, and to compare their AAM with healthy girlsÂ’ one.Subjects and method: The study was conducted on 1207 ...

hrp0084p3-1003 | Gonads | ESPE2015

Antimullerian Hormone and Inhibin B Markers of the Ovarian Reserve After Ovariectomy

Morandi Grazia , Piona Claudia Anita , Ben Sarah Dal , Ramaroli Diego , Cavarzere Paolo , Antoniazzi Franco , Gaudino Rossella

Background: Ovarian reserve is defined as the functional potential of the ovary, which reflects the number and quality of the follicles left in the ovary at any given time. In literature there studies about the evaluation of ovarian reserve after ovariectomy for tumors and cysts, using serum markers, such as inhibin-B, and anti-Mullerian hormone (AMH), combined to ultrasonographic markers, in adult women but none in peri-pubertal girls.Case presentation:...

hrp0094p2-75 | Bone, growth plate and mineral metabolism | ESPE2021

Afebrile seizure in a toddler girl with alopecia: a case report

Crisostomo Mafalda , Simoes Joana , Canteiro Rodrigues Claudia , Galhardo Julia , Lopes Lurdes ,

Background: Calcium homeostasis is primarily regulated by vitamin D. In the absence of the active hormone or a functional receptor, bones are inadequately mineralized, leading to the development of rickets. Vitamin D-dependent rickets type 2 (VDDR2) is a rare autosomal recessive disorder caused by mutations in the vitamin D receptor (VDR) gene.Case Report: A 12-months-old girl was transported to the local hospital ED with a three-minute ...

hrp0094p2-116 | Diabetes and insulin | ESPE2021

Sex differences over two decades for glycaemic control, pump use and insulin dose in patients aged 10-20 years with type 1 diabetes

Boettcher Claudia , Tittel Sascha R. , Meissner Thomas , Gohlke Bettina , Stachow Rainer , Dost Axel , Lanzinger Stefanie ,

Background: Therapy in type 1 diabetes has undergone a fundamental change over the last several decades, especially by the use of technical devices. Another change that took place is the growing awareness of sex differences of all kind, e.g. as influencing factors of metabolic control. Our study aimed to evaluate sex differences over two decades with regard to changes in glycaemic control, with regard to trends in insulin pump use and insulin dose. Migration b...

hrp0094p2-358 | Pituitary, neuroendocrinology and puberty | ESPE2021

Pubertal induction in girls with hypogonadism: preliminary prospective data of efficacy in patients with/without initial overnight estrogen replacement

Rodari Giulia , Federici Silvia , Persani Luca , Arosio Maura , Bonomi Marco , Giavoli Claudia ,

Background: Pubertal induction in girls with hypogonadism through estrogen replacement therapy (ERT) aims at the development of secondary sexual characteristics, cognitive functions, uterine growth and maturation, bone mass accrual and linear growth. To date, the best induction regimen, capable of assuring both physiological gradual progression through Tanner stages and effective uterine development, is still to be established.Patients a...

hrp0097p2-21 | Growth and Syndromes | ESPE2023

Schaaf-Yang syndrome: Report of two cases

Rampi Gabriela , Berger Malena , Cecchi Griselda , Schneider Claudia , Juarez Peñalva Sofia , Forrester Andrea

Schaaf-Yang syndrome (SYS) is a genetic disorder caused by truncating pathogenic variants in the paternal allele of the maternally imprinted, paternally expressed gene MAGEL2, located in the Prader-Willi critical region 15q11-15q13. SYS is a neurodevelopmental disorder that has clinical overlap with Prader-Willi Syndrome in the initial stages of life, being the intellectual disability, developmental delay, autism spectrum disorder, neonatal hypotonia, infantile feeding problem...

hrp0089p3-p156 | Fat, Metabolism and Obesity P3 | ESPE2018

Neck Circumference and Lipid Profile in Adolescents with Overweight/Obesity

Arrais Ricardo Fernando , Nunes Amanda Caroline Pereira , Andrade Ana Suely de , Souza Angelica Luiza de Sales , Araujo Eduarda Pontes dos Santos , Soares Erika Aparecida de Araujo , Pimentel Jessica Bastos , Teixeira Suerda Isa Nascimento , Souza Thatyane Oliveira , Jaime Viviane Cassia Barrionuevo , Rezende Adriana Augusto de , Lima Severina Carla Vieira Cunha

Introduction: Neck Circumference (NC) has been pointed out as an important indicator in the evaluation of overweight and may be useful to determine the level of obesity and metabolic alterations.Objective: To verify the relationship between the NC and the lipid profile in adolescents with overweight or obesity.Methods: A cross-sectional study with adolescents between 10 and 19 years old, of both sexes attended at the Endocrinology ...

hrp0092fc15.4 | Late Breaking Abstracts | ESPE2019

Defects in the GnRH Neuroendocrine Network Affect the Timing of Puberty

Saengkaew Tansit , Mancini Alessandra , Ruiz-Babot Gerard , Cabrera Claudia , Barnes Michael , Dunkel Leo , Guasti Leonardo , Howard Sasha

Background: Self-limited delayed puberty (DP) is an extreme variant of normal pubertal timing and it often clusters in families. Although it is highly heritable and is the most common cause of delayed puberty, little is known about the genetic control. GnRH neuronal biology has been implicated as a key element in the pathogenesis of DP. By focusing on genes involved in GnRH neuron development, migration and function we may understand more about the genetic bas...

hrp0089ha1 | EAP1 mutations cause an impaired transcriptional activity on GnRH promoter that leads to self-limited delayed puberty | ESPE2018

EAP1 Mutations Cause an Impaired Transcriptional Activity on GnRH Promoter that Leads to Self-Limited Delayed Puberty

Mancini Alessandra , Howard Sasha R , Cabrera Claudia P , Barnes Michael R , Heger Sabine , Guasti Leonardo , Ojeda Sergio , Dunkel Leo

Background: The initiation of puberty is orchestrated by the augmentation in the secretion of gonadotropin-releasing hormone (GnRH) from a few thousand neurons located in the hypothalamus. Recent findings identified that the neuroendocrine control of puberty is regulated by a network of transcriptional factors hierarchically organized, but this still remains not fully elucidated. Enhanced At Puberty 1 (EAP1) is one of the main regulators of pubertal onset and it is ex...

hrp0086fc7.6 | Gonads & DSD | ESPE2016

Whole-Exome Sequencing Reveals RAD51B Variant in Two Sisters with Primary Ovarian Failure

Franca Monica , Funari Mariana , Nishi Mirian , Domenice Sorahia , Latronico Ana Claudia , Jorge Alexander , Lerario Antonio , Mendonca Berenice

Background: Primary ovarian failure (POF) is a major cause of female infertility. POF is characterized by amenorrhea, hypo-estrogenism and elevated gonadotrophin levels. In POF disorder, several genetic alterations have been described, however in most of the patients the etiology of this disorder remains unknown.Objective and hypotheses: To identify new genes implicated in the development of POF using Next-Generation Sequencing (NGS).<p class="abstex...