hrp0092p1-5 | Adrenals and HPA Axis | ESPE2019

18 years of neonatal screening for congenital adrenal hyperplasia in North-Eastern Italy: recall rate reduction thanks to liquid chromatograpy-tandem mass spectrometry as second tier test

cavarzere paolo , Palma Laura , Lauriola Silvana , Gaudino Rossella , Vincenzi Monica , Teofoli Francesca , Antoniazzi Franco , Camilot Marta

Background: In North-Eastern Italy, a newborn screening for congenital adrenal hyperlpasia (CAH) has been taking place since 2001 to diagnose the classical form of 21-hydroxylase deficiency (21-OHD). Thanks to the screening program based on 17-OHP levels in dried blood spots, early diagnosis of CAH is possible, allowing appropriate precocious treatment and reducing mortality rates. Unfortunately, a high false positive rate, especially in preterm, low-birth-wei...

hrp0092p1-291 | Thyroid (1) | ESPE2019

An Incidental Finding of Thyroid Hormone Resistance Due to a De Novo Mutation in the THRB Gene

Averbuch Noa Shefer , França Monica , Lazar Liora , Tenenbaum Ariel , Phillip Moshe , de Vries Liat

Background: Thyroid hormone resistance (THR) is a rare genetic disorder that may be caused by thyroid hormone (TH) cell transporter defects or metabolism defects, but most cases are caused by an inherited mutation in the TH receptor beta (THRB) gene. The reduced responsiveness of target tissues to TH is characterized by elevated TH and a normal or elevated thyroid-stimulating hormone (TSH) level. Differentiating between THR and TSH-producing pituitary...

hrp0089rfc4.3 | GH & IGFs | ESPE2018

A Deletion Encompassing Exon 2 of the ALS Gene: Analysis of a Patient with ALS Deficiency and His Family

Poggi Helena , Arancibia Monica , Benavides Felipe , Lagos Carlos , Vecchiola Andrea , Dominguez-Menendez Gonzalo , Martinez-Aguayo Alejandro

The main role of the acid-labile subunit (ALS) is to stabilize the IGFBP3/IGF complexes. Pathogenic variants in the gene coding for ALS (IGFALS) results in IGF1 and IGFBP3 deficiency, short stature, delay puberty and insulin resistance. The aim of these study was to identify the genetic cause in a patient with suspected ALS deficiency. The proband is the third son of non-consanguineous parents, evaluated for the first time at 17.3 years due to short stature (−2....

hrp0089p3-p184 | Fetal, Neonatal Endocrinology and Metabolism P3 | ESPE2018

Mutation in UCP2 Gene: A Rare Cause of Hyperinsulinemic Hypoglycaemia Syndrome in a Small-for-Gestational Age Newborn

Clemente Maria , Yesquen Pamela , Campos Ariadna , Mogas Eduard , Fernandez Monica , Yeste Diego

Hyperinsulinism is a common cause of severe and persistent hypoglycaemia during the neonatal period. Eleven genes have been identified that lead to unregulated insulin secretion and hyperinsulinemic hypoglycaemia (HH). Inactivating mutations in UCP2 gene have been described in a very small number of patients with HH. UCP2 protein is an inner mitochondrial carrier protein and its loss of function causes enhanced glucose oxidation and increased intracellular ATP synthes...

hrp0089p3-p185 | Fetal, Neonatal Endocrinology and Metabolism P3 | ESPE2018

Hyperinsulinemic Hypoglycaemia Syndrome in Small-for-Gestational Age Newborns: Clinical Characteristics and Genetic Study

Yesquen Pamela , Clemente Maria , Campos Ariadna , Fernandez Monica , Castillo Felix , Yeste Diego

Hyperinsulinemic hypoglycaemia (HH) is a common cause of severe and persistent hypoglycaemia during the neonatal period. Risk factors for neonatal transient hyperinsulinism are small-for-gestational age (SGA), perinatal asphyxia and maternal diabetes mellitus. This state of hyperinsulinism in SGA newborns could persist from weeks to years, resulting in an important comorbidity; its pathogenesis remains unknown.Objective: To describe the clinical-genetic ...

hrp0089p3-p338 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology P3 | ESPE2018

Ovarian Leydig Cell Tumor in an 8 Years Old Girl Misdiagnosed as Congenital Adrenal Hyperplasia Due to Elevated 17-Hydroxi-Progesterone

Arancibia Monica , Garcia-Fernandez Hernan , Martinez-Aguayo Alejandro , Baquedano Paulina , Poggi Helena , Garcia Hernan

Introduction: Non-classical congenital adrenal hyperplasia is the most common pathological cause of early pubarche in prepubertal patients. However, this may also be the first manifestation of central precocious puberty or an androgen producing suprarrenal or ovarian tumor.Objective: To present a clinical case initially misdiagnosed as Congenital Adrenal Hyperplasia that turned out to be an Ovarian Tumor of Leydig Cells.Clinical ca...

hrp0089p3-p347 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology P3 | ESPE2018

Genital Swelling and Ovarian Stimulation Syndrome in an Extremely Preterm Infant

Cristina Azcona Maria , Ochotorena Amaia , Prados Monica , Luis Leon Jose , Alzina Valentin

Introduction: Ovarian stimulation syndrome (OSS) in an infrequent disorder, in preterm infants under 30 weeks gestation. The are very few cases described in the literature. The immaturity, lack of gonadal axis feed-back or mutations in the FSH receptor genes, may explain its physiopathology. We present the case of a 26-week neonate with this syndrome.Case summary: 26-week newborn with extremely low weight (460g) born by emergency cesarean section due to ...

hrp0089p3-p383 | Thyroid P3 | ESPE2018

Corticosteroid Resistant Immune Thrombocytopenic Purpura, is it a Marker of Future Graves Disease?

Azcona Maria Cristina , Leon Jose Luis , Prados Monica , Ochotorena Amaia , Oliver Asier

Introduction: The Immune Thrombocytopenic Purpura (ITP) and Graves Disease (GD) have in common an autoinmune physiopathology. ITP is characterized by a platelet count less than 100 × 106/l in the absence of other cause. On one hand, ITP has been associated with thyroid dysfunction, without developing GD. On the other hand, GD might develop with moderate thrombocytopenia, generally more than 100×109/l. It is described that in most cases ITP might...

hrp0086rfc11.7 | Thyroid | ESPE2016

Secondary Thyroid Cancer among Childhood Cancer Survivors: A Single Institution Experience

Muraca Monica , Bagnasco Francesca , Caruso Silvia , Morsellino Vera , Haupt Riccardo , Cabria Manlio

Background: Childhood cancer survivors (CCS) are at increased risk of developing secondary malignant neoplasms (SMN). Radiotherapy is one of the main risk factors, and secondary thyroid cancers (STC) are likely to occur among irradiated CCS.Objective and hypotheses: To evaluate frequency, characteristics, and of STC in the cohort of CCS treated and in follow-up at the Istituto Giannina Gaslini.Method: Survivors treated between 1975...

hrp0086p2-p181 | Bone & Mineral Metabolism P2 | ESPE2016

Pseudohypoparathyroidism Type IB Associated to Assisted Reproductive Technologies: Case Report

Fernandez Monica , Riquelme Joel , Castiglioni Claudia , Jueppner Harald W , Mericq Veronica

Background: Pseudohypoparathyroidism type Ib (PHP-Ib) is due to a maternal loss of GNAS exon A/B methylation and leads to decreased expression of the stimulatory G protein (Gsα) in specific tissues. Evidence suggests an increased incidence of imprinting disorders in children conceived by Assisted Reproductive Technologies (ART). Nevertheless, no associations between ART and PHP – Ib have been found to date.Clinical case: 7.4-years-old male with...