hrp0092p1-410 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology (2) | ESPE2019

Sertoli Cell Function after Chemotherapy in Boys with Hematologic Malignancies

Grinspon Romina P. , Arozarena Maria , Prada Silvina , Bargman Graciela , Sanzone María , Morales Bazurto Marjorie , Kanneman Ana , Bedecarrás Patricia , Gutiérrez Marcela , Gottlieb Silvia , Berenstein Ariel J. , Gabriela Ropelato María , Bergadá Ignacio , Aversa Luis , Rey Rodolfo A.

Introduction: Gonadotoxicity associated with chemotherapy of hematologic malignancies has been described mainly in adults, focused on the sensitivity of germ cells. Little attention has been placed on Sertoli cells during childhood and puberty, even though Sertoli cell development is essential for adult spermatogenesis.Objective: To assess function of the pituitary-testicular axis, with emphasis on Sertoli cell function,...

hrp0089p3-p381 | Thyroid P3 | ESPE2018

Growth Catch-up on Acquired Hypothyroidism Presenting with Growth Delay

Serra-Caetano Joana , Miranda Patricia , Ferraz Ana , Dias Ana Lopes , Lages Adriana , Cardoso Rita , Dinis Isabel , Mirante Alice

Introduction: Hypothyroidism is a frequent endocrinopathy in pediatric age. The most common manifestation in children is growth delay with decreased height velocity. Symptoms can be insidious and, if not identified ant treated, result in short stature.Aim: To evaluate stature catch-up after replacement therapy in children with primary acquired hypothyroidism.Methods: Retrospective study of all children with primary acquired hypothy...

hrp0082ha2 | Pubertal onset in girls is strongly influenced by genetic variation in promoters affecting FSH action | ESPE2014

Pubertal Onset in Girls is Strongly Influenced by Genetic Variation in Promoters Affecting FSH Action

Hagen Casper P , Sorensen Kaspar , Aksglaede Lise , Mouritsen Annette , Mieritz Mikkel G , Tinggaard Jeanette , Wohlfart-Veje Christine , Petersen Jorgen H , Main Katharina M , Meyts Ewa Rajpert-De , Almstrup Kristian , Juul Anders

Background: FSH stimulates ovarian follicle maturation and estradiol synthesis which is responsible for breast development. Age at pubertal onset varies substantially among healthy girls. Although more than half of the variation is heritable, only a small part has been attributed to specific genetic polymorphisms identified so far.Objective and Hypotheses: We assessed the effect on pubertal onset of three genetic polymorphisms affecting FSH action.<p...

hrp0082p3-d1-667 | Bone | ESPE2014

Metabolic and Bone Disorders in Vertically HIV-Infected Children

Vivanco Maritza , Riveros Constanza , Balboa Paulina , Hevia Mariana , Vizueta Eloisa , Maria Chavez Ana , Villarroel Julia , Maria Alvarez Ana , Torrejon Claudia

Background: Life expectancy of children with human immunodeficiency virus (HIV) has increased due to highly active antiretroviral therapy. Metabolic disorders and changes in bone mineral density (BMD) are common in adult patients with HIV. There are few studies evaluating metabolic and bone involvement in children.Objective and hypotheses: To evaluate metabolic disorders and BMD in vertically HIV-infected children in four Chilean hospitals.<p class="...

hrp0092lb-11 | Late Breaking Posters | ESPE2019

Height in Inborn Errors of Metabolism Requiring Hypoprotidic Diet: A Longitudinal Follow Up Study About 213 Patients

Busiah kanetee , Roda Célina , Brassier Anaïs , Pontoizeau Clément , Ottolenghi Chris , Piketty Marie , Crosnier Anne-Sophie , Perin Laurence , Le Bouc Yves , Netchine Irène , De Lonlay Pascale

Background: Protein intake is crucial for growth. Many inherited metabolic diseases (IMD) require a strict controlled protein diet.Aim: to evaluate growth, pubertal status and body composition in IMD requiring a strict controlled protein diet.Patients & Méthods: Longitudinal follow up cohort study. We recorded data before 4years (early childhood, n=189); betwe...

hrp0082p2-d2-470 | Growth (1) | ESPE2014

Severe Short Stature due to a Heterozygous igf1r Mutation With a Good Response to rhgh Therapy: a Family Study

Borras-Perez Victoria , Fernandez-Cancio Monica , Gomez-Nunez Ana , Catala-Puigbo M , Audi Laura , Campos-Barros Angel

Background: IGF1 resistance syndrome (IGF1RS) is characterized by intrauterine and postnatal growth deficit with normal or supranormal IGF1 levels. Additional features may include intellectual deficit, microcephaly, and dysmorphisms. IGF1RS may be caused by genomic or genetic defects affecting the IGF1R locus (15q26.3).Objective and hypotheses: Case report: a girl born at 36.5 weeks, BW 1.935 g (−3.2 SDS), length 41 cm (−4.4 SDS) and...

hrp0097p1-270 | Fat, Metabolism and Obesity | ESPE2023

MC4R deficiency in a portuguese pediatric cohort study

C Mendes Ariana , Pereira Janet , Mirante Alice , M Saraiva Jorge , R. Soares Ana , B. Sousa Sérgio , Rosmaninho-Salgado Joana

Background: Melanocortin 4 receptor (MC4R) deficiency is the commonest monogenic form of non-syndromic obesity. MC4R is a seven transmembrane G-protein coupled receptor implicated in central regulation of body weight. The loss-of-function mutations in MC4R gene will contribute to early-onset obesity associated with hyperinsulinemia, hyperphagia and “binge eating”. We aim to determine the prevalence of MC4R variants in a Pediatrics...

hrp0092p1-253 | Pituitary, Neuroendocrinology and Puberty (1) | ESPE2019

Changes in the Body Mass Index in Children with Central Precocious Puberty' Under Gonadotropin-Releasing Hormone Analogue Treatment - A Multicentric Study

Galo Elisa , Leite Ana Luisa , Antunes Ana , Robalo Brígida , Espada Filipa , Castro Sofia , Dias Sara , Limbert Catarina

Precocious Puberty is defined by the onset of pubertal development at an age 2-2,5 standard deviations earlier than the normal population. Central Precocious Puberty (CPP) is diagnosed when the hypothalamic-pituitary axis is activated. Gonadotropin-releasing hormone analogues (Gn-RH analogues) are the main treatment option, but sometimes controversial. Whether this treatment influences children's body mass index (BMI) and a different BMI progression is still unclear.<p...

hrp0092p1-152 | Thyroid | ESPE2019

Thyroid Function Following Hemithyroidectomy in a Pediatric Cohort

Papendieck Patricia , Masnata Maria Eugenia , Bergada Ignacio , Chiesa Ana

Background: Studies about thyroid function following hemithyroidectomy are scarce in the literature and no studies include pediatric population.Objective: To describe thyroid function in pediatric patients who underwent a hemithyroidectomy.Design: Retrospective cohort study.Patients and Methods: Among the 38 patients who underwent hemithyroid...

hrp0089p1-p020 | Adrenals and HPA Axis P1 | ESPE2018

High DHEAS (HD) in Girls Determines Earlier Pubertal Maturation and Mild Hyperandrogenism throughout Pubertal Development

Pereira Ana , Merino Paulina , Iniguez German , Corvalan Camila , Mericq Veronica

Background: Premature adrenarche (PA),characterized by high concentrations of DHEAS,has been considered a benign condition until recently,where associations to increased metabolic risk and PCOS have arisen,which may depend on ethnic background and infancy weight gain.Objective and hypotheses: To determine whether PA in girls determines:i)a different timing of pubertal events, and ii)a different pattern of Ovarian morphology/hormones and adrenal hormones....