hrp0084p1-66 | DSD | ESPE2015

46, XX Ovotesticular DSD in the Absence of SRY Gene Associated to SOX3 Duplication

Grinspon Romina P , Nevado Julian , Alvarez Maria de los Angeles Mori , Rey Rodolfo A , del Rey Graciela , Chiesa Ana

Background: Ovotesticular DSD is a rare disorder defined by the presence of both ovarian and testicular tissues in the same individual. SRY is present in approximately 1/3 of patients with 46, XX ovotesticular DSD. In SRY-negative ovotesticular DSD, the mechanism responsible for the presence of testicular tissue is not yet understood.Case presentation: A male patient was referred to us for hypospadias and bilateral cryptorchidism at 2.5...

hrp0097rfc14.3 | Late Breaking | ESPE2023

Body composition in a pediatric population with type 1 diabetes mellitus - the importance of planned physical activity

Adriana Rangel Maria , Pires Rita , Lopes Vilma , Lima Conceição , Arménia Campos Rosa , Luísa Leite Ana

Introduction: Type 1 diabetes mellitus (T1DM) is associated with significantly higher cardiovascular disease mortality compared to the general population, even when glycated hemoglobin (HbA1c) is less than 7.0%. Inadequate body composition may increase the risk.Aim and Methods: To evaluate body composition of a group of pediatric patients with T1DM, from Portuguese Pediatric Endocrinology/Diabetic Clinic, using the bioim...

hrp0097p1-176 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2023

Mechanism of mutagenesis and phenotype implications of small indels in the Androgen Receptor gene in Androgen Insensitivity Syndrome

Loch Batista Rafael , Ramos Raquel , Caroline Afonso Ana , Petroli Reginaldo , Tereza Ferrari Maria , Domenice Sorahia , Nishi Mirian , Mendonca Berenice

Indels are highly abundant in human genomes and have contributed massively to genome evolution. However, the role of indels and their underlined mechanisms of mutagenesis in Mendelian disorders still needs to be appreciated. To explore the contribution of indels in a monogenic disorder, we analyzed all indels already described in the AR gene, including three novel indels found in our cohort. We analyzed the indel distribution through the AR coding region, compared wit...

hrp0097p2-90 | Multisystem Endocrine Disorders | ESPE2023

Autosomal dominant hypocalcemia: A diagnostic and therapeutic challenge

Ariza-Jimenez Ana-Belen , Ariza-Jimenez Jose-Antonio , Azpilicueta Idarreta Maria , de la Camara Moraño Carmen

Introduction and Aims: Autosomal dominant hypocalcemia or type V Bartter syndrome is characterized by hypocalcemia, low parathyroid hormone (PTH), and calciuria, which marks its prognosis due to the risk of nephrocalcinosis. It is caused by activating mutations in the calcium-sensing receptor (CASR) gene (3q21.1), which is expressed in the parathyroid and renal tubules, causing salt and potassium loss, due to the inhibition of the ROMK and NKCC2 channels. We s...

hrp0097p2-44 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2023

New variant in DHX37 associated to 46,XY gonadal dysgenesis

Dominguez-Riscart Jesus , Garcia-Zarzuela Ana , Arellano-Ruiz Paola , Benito-Sanz Sara , Delgado-Cotan Lourdes , Maria Lechuga-Sancho Alfonso

Introduction: 46,XY gonadal dysgenesis (GD) represents a heterogeneous group of disorders/differences of sex development (DSD) characterized by abnormal gonadal development leading to a wide phenotypic spectrum. Variable degrees of external genitalia undervirilization are observed, ranging from micropenis to female-like genitalia and partially or fully-developed Mullerian derivatives.Case Report: A 6 years-old boy follow...

hrp0097p2-272 | Late Breaking | ESPE2023

Is screening for vitamin D deficiency reasonable or should we supplement at risk patients?

Oliveira Mariana , Cláudia Moura Ana , Miguel Cláudia , Pinto Mariana , Barros Marta , Almeida Nuno , Adriana Rangel Maria

Introduction: No consensus on vitamin D (VitD) deficiency screening in children and adolescents exists.Aim: To evaluate a sample of patients in whom VitD dosing was performed and determine the rationale for this assessment.Methods: Retrospective, longitudinal study of pediatric patients, from a Portuguese tertiary hospital, who had at least two 25(OH)D level blood sampling between ...

hrp0098p1-56 | GH and IGFs 1 | ESPE2024

Body composition abnormalities during the transition stage in males with growth hormone deficiency (GHD) after completion of replacement therapy

Boquete Carla , Boquete Hugo , Galich Ana , Gideleff Gabriel , Azaretzky Miriam , Suarez Martha , Ruibal Gabriela , Iparraguirre Maria , Fideleff Hugo

There is still controversy about body composition after completion of growth hormone (GH) therapy in patients with GHD once final adult height has been reached.Objective: A cross-sectional study was conducted to evaluate body composition in males after GH therapy discontinuation, during the transition stage.Patients and Methods: 18 males with confirmation of persistent GHD (16.7-21.5 years) after G...

hrp0098p3-86 | Fat, Metabolism and Obesity | ESPE2024

Setmelanotide as treatment for obesity due to leptin receptor (LEPR) deficiency in a child under 6 years of age

Ariza-Jimenez Ana-Belen , Ariza-Jimenez Jose-Antonio , Alarcon Roldan Maria-Angeles , de la Camara Moraño Carmen

Introduction: LEPR regulates body mass via a negative feedback mechanism between adipose tissue and the hypothalamus. Leptin resistance is characterized by reduced satiety, over-consumption of nutrients, and increased total body mass. Often this leads to obesity, which reduces the effectiveness of using exogenous leptin as a therapeutic agent. Setmelanotide is an approved treatment for severe obesity due to LEPR in patients older than 6 years old.<p class=...

hrp0095p2-185 | Growth and Syndromes | ESPE2022

Coexistence of (likely) pathogenic variants in two genes, EZH2 and PTEN, contribute to overgrowth and developmental delay phenotype in a female patient

Suco Sofia , Scaglia Paula , Esnaola Azcoiti Maria , Armando Romina , Braslavsky Debora , Sanguineti Nora , Arberas Claudia , Gabriela Ropelato Maria , Izquierdo Agustin , Bergada Ignacio , Keselman Ana

Introduction: Overgrowth syndromes comprise an heterogeneous group of rare disorders characterized by generalized or segmental excessive growth commonly associated with additional features, such as developmental delay, visceromegaly and macrocephaly. They may present with inherent health concerns and, in some instances, an increased risk of tumor development requiring prompt diagnosis and appropriate referral.Objective: ...

hrp0089p2-p138 | Fat, Metabolism and Obesity P2 | ESPE2018

Physical Activity Determined by Accelerometry Before and After an Integral Treatment Program in Children with Abdominal Obesity

Azcona Maria Cristina , Morell Lydia , Ochotorena Amaia , Ana Ojeda , Leon Jose Luis , Prados Monica , Chueca Maria , Marti Amelia , GenoI Other members Grupo

Introduction: Physical activity (PA) is one of the treatments to promote weight loss in children with obesity. The WHO advices to perform moderate to vigorous (MV) PA during 60-min daily. It is necessary to measure the effect of increasing PA and the adherence to therapy.Aims: To evaluate PA using accelerometry at the onset and after 8 weeks of treatment with nutritional intervention and increase in PA.Patients, material and method...