hrp0092fc9.3 | Fetal, Neonatal Endocrinology and Metabolism (to include Hypoglycaemia) | ESPE2019

DNA Methylation Signatures in Placenta and Umbilical Cord: Association with Maternal Obesity

Mas-Pares Berta , Xargay-Torrent Silvia , Gomez-Vilarrubla Ariadna , Lizarraga-Mollinedo Esther , Martínez-Calcerrada Jose-María , Bonmatí-Santané Alexandra , de Zegher Francis , Ibáñez Lourdes , López-Bermejo Abel , Bassols Judit

Background and Objectives: Offspring born to obese mothers are at an increased risk of chronic disease including type 2 diabetes (T2D), obesity, hypertension, cardiovascular disease (CVD), non-alcoholic fatty liver disease (NAFLD) and chronic kidney disease (CKD). This metabolic programming is produced, in part, by epigenetic changes such us DNA methylation. We postulated that obesity exposure impacts the offspring's methylome and used an epigenomic approa...

hrp0092p1-331 | Diabetes and Insulin (2) | ESPE2019

Design and Implementation of an Integral System of Clinical Follow-Up and Glucose Monitoring in Children Affected of Type 1 Diabetes, in Andalusia

Hernández-Soto Rocío , Luque-Romero Luis , Alcaide-Gantes Alvaro , Mayoral-Sanchez Eduardo , Romero M del Mar , Dube Juan De Dios , Llamas-Porras Salvador , Sanchez-Laguna Francisco , Antonio Gomez-Palomeque Juan , Martinez-Brocca Asuncion

Introduction: The incorporation of the interstitial glucose monitoring system, in the offer of services in the Andalusian Public Health System (APHS), means an opportunity for the implementation of a model of integration, and follow-up of glucose data, and the evaluation of their impact in health results.Purpose (Aim): The design and implantation of a model that allows the identification, registration of clinical data, i...

hrp0092p2-279 | Thyroid | ESPE2019

Diagnosis of Central Congenital Hypothyroidism and Multiple Pituitary Deficiencies Through a Neonatal Screening Program

Grau Gema , Concepción Fernández María , Artola Elena , Sarasua Ainhoa , Lizarralde Eneritz , Pintos Carla , Vela Amaia , Rodríguez Amaia , Díez Ignacio , Rica Itxaso

The congenital central hypothyroidism (CCH) incidence is estimated at 1:18,000-30,000 neonates and most are included in multiple pituitary deficiencies (MPD). Clinical depend on the etiology, the deficit severity; other associated hormonal alterations and the age of diagnosis. Neonatal screening (NS) for congenital hypothyroidism that includes T4 facilitate its diagnosis.Objetives: •To evaluate the characteristics of patients with C...

hrp0092p3-276 | Late Breaking Abstracts | ESPE2019

Exocrine Pancreatic Insufficiency and Vitamin K Deficiency Associated to Octreotide Therapy in Congenital Hyperinsulinism: An Under-Recognized Potential Adverse Effect

Ros-Pérez Purificación , Golmayo Luz , Cilleruelo M. Luz , Gutierrez Carolina , Celaya Patricia , Lacamara Nerea , Martinez-Badás Itziar , Güemes María , Argente Jesús

Abstract: Congenital hyperinsulinism (CH) is the most frequent cause of persistent hypoglycemia in the newborn. Octreotide, a long-acting somatostatin analogue (SSA), is a second line treatment for diazoxide unresponsive CH patients. Although it has been found to be a safe and effective treatment, long-term benefits and side effects have not been thoroughly evaluated. Furthermore, some authors have emphasized that exocrine pancreatic insufficiency is a common ...

hrp0092p1-345 | Fat, Metabolism and Obesity (2) | ESPE2019

ANGPTL-4 in Children and Adolescents: Relation to Gender, Puberty and Obesity

Barja-Fernández Silvia , Folgueira Cintia , Castelao Cecilia , Pena-León Verónica , González-Saenz Patricia , Vázquez-Cobela Rocío , Aguilera Concepción M , Gil-Campos Mercedes , Bueno Gloria , Gil Ángel , Moreno Luis , Ruiz-Piñon Manuel , García-Palacios María , Casanueva Felipe F , Dieguez Carlos , Nogueiras Rubén , Seoane Luisa M. , Leis Rosaura

Introduction: Preclinical models demonstrated that Angiopoietin-like protein 4 (ANGPTL-4) regulates lipid metabolism and affects energy homeostasis. However, no data exist regarding its involvement in childhood and adolescence, periods of life with important metabolic changes.Objectives: We aimed to investigate circulating levels of ANGPTL-4 in children and adolescents and its relationship with gender, puberty and obesit...

hrp0095wg1.1 | ESPE Working Group on Disorders of Sex Development (DSD) Symposium | ESPE2022

Fertility Preservation in Experimental Models in DSD

Rod Mitchell

The impact of DSD on future fertility is dependent on several factors. The key determinant of fertility potential is the status of gonadal development and function, and whether the individual has ovarian tissue with viable oocytes, or testicular tissue capable of producing functional sperm. Fertility risk will be primarily determined by the underlying diagnosis, modified by several additional factors. Whilst fertility preservation options are well established for many patient ...

hrp0095p1-343 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

Subcutaneous Triptorelin stimulation test for diagnosing central precocious puberty in girls

Sang Lee Hae , Suk Shim Young , Sub Lim Jung , Soon Hwang Jin

Objective: Central precocious puberty (CPP) is defined as early activation of the hypothalamic-pituitary-gonadal axis. The gonadotropin releasing hormone (GnRH) stimulation test has become widely used in the evaluation of CPP. However, intravenous GnRH is often not readily available for commercial use. Therefore, we aimed to evaluate the diagnostic accuracy of the Triptorelin test compared to the GnRH test.Methods: A tot...

hrp0095p1-388 | Thyroid | ESPE2022

Next Generation Sequencing Analysis of Congenital Hypothyroidism Patients in A Single Tertiary Center

Park Jisun , Kim Sujin , Lee Jieun

Background: Congenital hypothyroidism is the most common neonatal metabolic disorder and detected at a rate of 1 in 3000 to 4000 live births. Compared to congenital hypothyroidism caused by defects in thyroid development leading to thyroid dysgenesis, thyroid dyshormonogenesis has tendency to be detected at older age and its clinical manifestations are individually different. Thus, to evaluate exact causes and predict clinical course for congenital thyroid dys...

hrp0086rfc15.7 | Late Breaking | ESPE2016

Long-Term Safety and Effectiveness of Daily and Weekly Growth Hormone Treatment in Pediatric GHD Patients (4-Years’ Results)

Chung Sochung , Hwang Il Tae , Rhie Young Jun , Kim Jae Hyun , Chae Hyun-Wook , Choi Jin Ho , Yoo Jae-ho , Shin Choong Ho

Background: The weekly sustained-release growth hormone (GH) has been approved for treatment in growth hormone deficiency (GHD). It provides a practical strategy for improving adherence.Objective and hypotheses: To evaluate the long-term safety and effectiveness of two formulations of daily (Eutropin®) and weekly (EutropinPlus®) GH in Korean pediatric GHD patients.Method: A multicenter, long-term, pr...

hrp0086p1-p356 | Gonads & DSD P1 | ESPE2016

A New International Registry Highlights the Differences in Practice for Reaching a Diagnosis of CAH – On Behalf of the I-CAH/I-DSD Registry User Group

Kourime Mariam , Bryce Jillian , Jiang Jipu , Karunasena Nayananjani , Guran Tulay , Hannema Sabine Elisabeth , Cools Martine , Van Der Grinten Hedi L Claahsen , Krone Nils , Darendeliler Feyza , Balsamo Antonio , Bonfig Walter , Nordenstrom Anna , Hiort Olaf , Dagmar Lallemand , Ross Richard , Ahmed Syed Faisal , Koehler Birgit , Acerini Carlo , Mendonca Berenice B , Bertelloni Silvano , Lisa Lidka , Bonfig Walter , Elsedfy Heba , Marginean Otilia

Background: Following the 2010 CAH consensus, the need for genetic confirmation of diagnosis remains uncertain and variation in practice is unclear.Methods: This variation was assessed by using the International CAH(I-CAH) Registry which was developed using the same platform as the I-DSD Registry.Results: After the development of the I-CAH Registry in October 2014, the rate of addition of CAH cases increased from 2/month to 14/mont...