hrp0086p1-p817 | Syndromes: Mechanisms and Management P1 | ESPE2016

Silver-Russell Syndrome with 11p15 Epimutation: Clinical Analysis of Adrenarche, Central Puberty and Body Mass Index in a Cohort of French Children

Canton Ana , Brioude Frederic , Netchine Irene

Background: Silver-Russell syndrome (SRS) is characterized by intrauterine and postnatal growth retardation, a typical phenotype and feeding difficulties. It is related to 11p15 ICR1 hypomethylation in up to 50% of the cases. Some patients may exhibit signs of early puberty or premature adrenarche, including premature pubarche and/or an exaggerated adrenarche (high dehidroepyandrosterone sulfate (DHEAS) levels for chronological age). Despite early feeding difficulties, some ch...

hrp0086p2-p974 | Thyroid P2 | ESPE2016

Severe Growth Retardation and Hypothyroidism due to Hashimoto’s Thyroidits

Krstevska-Konstantinova Marina , Stamatova Ana , Gucev Zoran

Background: Hashimoto’s thyroiditis is a common autoimmune disease in pubertal and adolescent girls. In the past years the incidence of this autoimmune disease of the thyroid gland has increased.Objective and hypotheses: We present a 12.5 year old girl who had her first visit at our Pediatric Endocrinology Department at the age of 10 years due to short stature and clinical signs of hypothyroidism. Her height was – 3SD SDS and her BMI was 12.7. ...

hrp0082p3-d2-853 | Growth (3) | ESPE2014

Switching From the Original to the Biosimilar Recombinant Human GH – Omnitrope®: an Experience of a Single Paediatric Centre in Spain

Gila Ana Gomez , Garcia Margarida Palla

Introduction: In 2009/2010 Hospital Virgen del Rocío, Seville, Spain changed the treatment of patients with GH deficiency (GHD) from various original recombinant human GH (rhGH) to a biosimilar rhGh (Omnitrope®, Sandoz).Objective: To evaluate the consequences on growth parameters of switching treatment, from original rhGHs to Omnitrope® in children with GHD, in a window period of 36 months.Metho...

hrp0084p3-1091 | Perinatal | ESPE2015

Transient Neonatal Hypoparathyroidism Secondary to an Unknown Maternal Parathyroid Adenoma

Teresa Perez Maria , Regina Labra , Ana Llorente

Background: Transient neonatal hypoparathyroidism (hPT) by inhibition of fetal parathyroid secondary to undiagnosed asymptomatic hyperparathyroidism (HPT) in the mother often debuts as late neonatal seizures.Objective and hypotheses: To emphasise the indication of maternal metabolic study (Cacium-Ca-, Phosphorus-P- and PTH) in addressing late neonatal hypocalcemia, especially in the case of late neonatal hypocalcemic seizures.Metho...

hrp0084p3-1143 | Puberty | ESPE2015

Premature Adrenarche is Associated to Precocious Thelarche but not to Precocious Gonadarche or Pubarche in Chilean Adolescents

Pereira Ana , Corvalan Camila , Mericq Veronica

Background: Premature adrenarche (PA) has been associated to increased metabolic risk. Areas of controversy regarding associated co-morbidities are precocious pubarche, PCOS and lower birth weight, which may depend on ethnic background.Objective and hypotheses: To describe the risk of precocious thelarche (PT, <8 years), pubarche (PP, <8 years F, <9 years M) and gonadarche (PG, <9 years) in children with premature adrenarche.<p class=...

hrp0097fc11.6 | GH and IGFs | ESPE2023

Longitudinal analysis of the risk of brain tumour recurrence or progression in relation to the timing of commencement of growth hormone replacement therapy.

Paula Gonzalez-Mereles Ana , Gan Hoong-Wei

Introduction: Growth hormone deficiency (GHD) is the most frequent endocrine deficit in childhood survivors of brain tumours. However, there is insufficient evidence to guide the timing of growth hormone replacement (GHR). At Great Ormond Street Hospital timing is based on clinical need rather than in relation to oncological treatment. Therefore, sufficient variability in GHR timing is available to analyze its effect on tumour progression and recurrence.<p...

hrp0082p2-d2-606 | Thyroid (1) | ESPE2014

Genetic Studies in Congenital Hypothyroidism: a Regional Study

Hashemipour Mahin , Hopvsepian Silva

Background: Congenital hypothyroidism (CH) is considered as the most common endocrine disorder in neonates. CH may be caused by defects in the thyroid gland (dysgenesis) or in one of the stages in the synthesis of thyroid hormones (dyshormonogenesis). Early diagnosis and treatment of neonates with CH is crucial for their neurological development and preventing its related mental retardation. CH screening program have made the opportunity to achieve the mentioned goals. CH scre...

hrp0082p3-d1-985 | Thyroid | ESPE2014

Trends in Incidence of Permanent and Transient Congenital Hypothyroidism in Shanghai China

Fan Xin , Gu Xuefan , Luo Jingsi , Qiu Wenjuan , Ye Jun , Chen Shaoke , Xu Jianfeng

Background: Congenital hypothyroidism (CH) is a major target of new born screening. It has two major forms (permanent and transient) that have different prognoses.Objective and hypotheses: The purposes of this study were to assess the trends in incidence of permanent and transient CH in China, and to identify clinical variables that may help to distinguish these two forms of CH.Method: Newborns were screened for CH at Xinhua Hospit...

hrp0089p1-p161 | Growth &amp; Syndromes P1 | ESPE2018

Analysis of Osteoblats Precursors in Girls with Turner Syndrome

Brunetti Giacomina , Chiarito Mariangela , Piacente Laura , Aceto Gabriella , Colucci Silvia , Colaianni Graziana , Grano Maria , D'Amato Gabriele , Felicia Faienza Maria

Background and aim: Subjects with Turner Syndrome (TS) show low cortical bone mineral density (BMD), osteoporosis and risk of fractures. Previously, we demonstrated the enhanced spontaneous osteoclastogenesis in girls and young women with TS before and after pubertal induction with hormonal replacement therapy (HRT). The bone resorption observed in girls before puberty induction seems to be supported by the high FSH serum levels observed at prepubertal stage, while in young wo...

hrp0097p2-74 | Fetal, Neonatal Endocrinology and Metabolism | ESPE2023

A recessive heterozygous mutation in ABCC8 gene as the cause of severe congenital hyperinsulinism: a case report

Scheidemantel Aline , de Carvalho Kraemer Gabriela , Nesi-França Suzana , Ângela Ramires De Carvalho Julienne , Marcolla Bordin Pazzini Luiza , Eduardo Cruvinel Pinto Luís , Junqueira Soares Gabriel , De Lacerda Luiz , Marques Pereira Rosana , Cardoso-Demartini Adriane

Case Report: A preterm boy was born at 35 weeks gestational age by cesarean section due to fetal macrossomia and polyhydramnios, weight 4980g (4.3 SDS, Intergrowth 21st), length 53cm (3.1 SDS), 1-min-Apgar 2. He needed resuscitation after birth, and his glycemia was 20 mg/dL. At the Neonatal Intensive Care Unit (NICU), he presented with severe hypoglycemia (10mg/dL) and required intravenous glucose infusion rate (GIR) 10mg/kg/min that increased progressively u...