hrp0084p2-319 | DSD | ESPE2015

Gonadotropin Surge During the Early Postnatal Activation Period in 46,XX Testicular/Ovotesticular Disorder of Sex Development Patients

Costanzo Mariana , Guercio Gabriela , Marino Roxana , Ramirez Pablo , Garrido Natalia Perez , Vaiani Elisa , Berensztein Esperanza , Lazzati Juan Manuel , Maceiras Mercedes , Rivarola Marco A , Belgorosky Alicia

Background: During the 1st months of postnatal life serum luteinizing hormone (LH) levels in girls are lower than in boys. The mechanism of this sex difference is not known. It has been proposed that foetal or perinatal androgenic steroids have an effect on the control of LH secretion.Objective and hypotheses: To study the possible influence of high levels of androgens on serum gonadotropins during the 1st months of life in a cohort of nine 46,XX testicu...

hrp0095p1-154 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

Reference values in pelvic ultrasonography for a Spanish population of healthy girls between 6 and 12 years old

Corripio Raquel , Villalobos Marisa , Patricia Beltrán-Salazar Viviana , Pérez Jacobo , Duran Carmina

Background: Pelvic ultrasonography (PUS) of the uterus and ovaries allows the diagnosis of changes in sexual development. However, the reference values used in Spain originate from old studies conducted in other countries.Objective: To determine reference uterine and ovarian measurements by PUS and according to pubertal status and bone age in a Spanish population of healthy girls aged between 6 and 12 years.<p class=...

hrp0092p1-68 | Fetal, Neonatal Endocrinology and Metabolism (to include Hypoglycaemia) | ESPE2019

Growth and Cognition at Peri-Pubertal Age in Preterm Infants Very Low Birth Weight: The Role of Extrauterine Growth Restriction (EUGR)

Lucaccioni Laura , Malmusi Giovanni , Talucci Giovanna , Pugliese Marisa , Arrigoni Marta , Spada Caterina , Ferrari Fabrizio , Iughetti Lorenzo

Background: Preterm infants born VLBW can display auxological impairment and long term cognitive disabilities. These outcomes are influenced by the condition of being small for gestational age (SGA), but also by the extra-uterine growth restriction (EUGR). Aim of the study was to detect the influence of gestational age(GA), perinatal growth trend and enteral nutrition during the hospitalization on cognitive and auxological outcomes at peri-pubertal age (PPA).<...

hrp0092p1-282 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology (1) | ESPE2019

Characteristics of 311 Children with Early Onset Pubertal Signs. Descriptive Study

Wichner Paula Sol Ventura , Herrero Xavier , Llorca Maria Laura , Bosch Zelmira , Lacruz Marisa Torres

Aim of our study was to assess clinical characteristics and complementary studies, in patients who consulted the Endocrinology Department of our pediatric hospital, referred by pediatricians to discard precocious puberty.Methodology: it is a descriptive study based on review of medical records, with first consultation between 2010 and 2018. Criteria were developed to assign patients to one of six diagnostic categories based on age, growt...

hrp0082p3-d3-801 | Gonads and Gynaecology | ESPE2014

The Usefulness of the Leuprolide Stimulation Test as a Diagnostic Method of Idiopathic CPP in Girls

Bel Joan , Murillo Marta , Carretto Federico , Martinez Maria , Granada Marisa , Salinas Isabel

Background: The central precocious puberty (CPP) diagnosis is usually based on clinical evaluation but in its soon phase this evaluation is difficult so laboratory confirmation is crucial.Objective and hypotheses: To evaluated the usefulness of the Leuprolide stimulation test as a diagnostic method of idiopathic CPP.Method: Sixty-one girls, aged 5–8 years, were evaluated retrospectivaly for premature breast development. Girls ...

hrp0084p2-454 | Growth | ESPE2015

Growth Pattern in Children Affected of Lowe Syndrome – Descriptive Multicentre International Study: Preliminary Data

Suarez-Ortega Larisa , Roman Anna Casteras , Loranca Marisa , del Pozo Jaime Sanchez , Group Rare Commons

Background: Lowe syndrome or oculocerebrorenal syndrome is a very rare condition (1:50 000) caused by mutations in the OCRL1 gene. It is an x-linked disorder characterized by congenital cataracts, renal tubular dysfunction, neurological defects (generalized hypotonia and mental retardation) and growth disorders. Growth pattern in Lowe syndrome has not been described in population-based studies so far.Objective: Descriptive multicenter international study...

hrp0089p3-p056 | Bone, Growth Plate &amp; Mineral Metabolism P3 | ESPE2018

Response to Pamidronate Therapy and Pharmacogenetics in Patients with Osteogenesis Imperfecta

Selveindran Nalini M , Hong Janet YH , Nawawi Nadiah Mohd , Murad Nor Azian Abdul , Jamal Rahman , Latiff Zarina Abdul , Aziz Bilkis Banu Abd , Zakaria Syed Zulkifli Syed , Zain Fuziah Md , Rasat Rahmah

Introduction: Osteogenesis imperfecta (OI), is a genetically heterogeneous connective tissue disorder associated with skeletal fragility, deformity, and growth deficiency. Intravenous bisphosphonate therapy is the mainstay of medical treatment of this condition. Given the paucity of data from Asia we sought to evaluate the genetic epidemiology and the response to pamidronate therapy in a cohort of Malaysian patients.Method: Genetic analysis was performed...

hrp0097p1-53 | Fat, Metabolism and Obesity | ESPE2023

First results from the ongoing Med4Youth European study: comparing Mediterranean diet with a Low-Fat Diet for adolescents with obesity

Petraroli Maddalena , Shulhai Anna-Mariia , Messina Giulia , Rosi Alice , Bertolotti Elena , Maria Roberta Esposito Susanna , Scazzina Francesca , Elisabeth Street Maria

Obesity is increasing, and the related complications are well known. Clinical Trials related with specific diets are currently lacking in paediatrics. There is an increasing interest in Mediterranean diet (MD). The Med4Youth European study* has enrolled 240, 13- to 16-year-old subjects with a BMI above the 90th percentile(WHO curves) in a multicenter randomized controlled trial (Italy, Spain and Portugal) to evaluate the effects of MD. We present the data relative to the 80 su...

hrp0089p3-p028 | Adrenals and HPA Axis P3 | ESPE2018

Discrete Virilization in Girls with the Classic Form of Congenital Adrenal Hyperplasia: the Importance of a Detailed Genital Examination at Birth

Santos Silva Chagas Leticia , Guerra-Junior Gil , Palandi De-Melo Maricilda , Helena Valente Lemos-Marini Sofia

Introduction: Differentiation of the external genitalia depends on serum androgen concentrations in the foetal life. The classic form of Congenital Adrenal Hyperplasia due to 21-hydroxylase deficiency (21OHD) is the most frequent cause of female genital ambiguity. It is an autosomal recessive disorder due to CYP21A2 mutations that are classified in groups based on their in vitro residual enzymatic activity. The phenotype usually is predicted by the less severe mutatio...

hrp0086p1-p734 | Pituitary and Neuroendocrinology P1 | ESPE2016

Pseudopuberty in a Young Girl with Adrenocortical Carcinoma During Mitotane Therapy

Marini Romana , De Pasquale Debora , Bizzarri Carla , Santoro Elisa , Cozza Raffaele , Cappa Marco

Background: The Adrenocortical Neoplasm (ACN) is a rare condition in childhood (0,3 cases/1000000). In paediatric age, ACN at stage 1 is treated by complete adrenalectomy, while at stages 2 and 3 surgery is followed by adjuvant treatment with Mitotane (M). Chemotherapy is required in metastatic cases (stage 4).Objective and hypotheses: M is an adrenal cytotoxic agent which has both adrenolytic action on ACN cells and inhibition on steroid hormone synthes...