hrp0094p1-155 | Fetal Endocrinology and Multisystem Disorders B | ESPE2021

Pediatric Inflammatory Multisystemic Syndrome in Brazil: sociodemographic characteristics and risk factors to death

da Silva Oliveira Vinicius , Batista Soares Marcela , Jose de Morais Walison , Portugues Almeida Julia , Araujo Dias Lara , Abi Faical Barros Laura , Carvalho de Aquino Erika , Machado Pinto Renata ,

Background: A virus initially considered benign in this age group, SARS-COV-2 has recently been associated with Pediatric Multisystemic Inflammatory Syndrome (PIMS), temporarily associated with COVID-19, a syndrome whose diagnostic determination has a vital relevance since it imposes unfavorable outcomes. This study aims to describe the sociodemographic characteristics of PIMS in Brazil and the factors associated with death by this syndrome.<p class="abste...

hrp0092p3-297 | Late Breaking Abstracts | ESPE2019

Liver Transplantation in Saudi Homozygous Familial Hypercholesterolemia Patients

Al-Ashwal Abdullah , Al-Mansour Salman , Al-Shagrani Mohammed , Al-Gofi Talal , Breuring Dieter

Introduction: Patients with homozygous familial hypercholesterolemia (HoFH) suffer from this disorder from birth and they have abnormally high cholesterol levels due to a disease that has autosomal dominant inheritance of genetic aberrations in the coding region for low density lipoprotein receptors (LDLR) in more than 90% of cases, other gene defect includes mutations in apolipoprotein B100 (apoB100) and proprotein convertase subtilisin/kexin type 9 (PCSK...

hrp0086p1-p923 | Thyroid P1 | ESPE2016

Small Thyroid Volume on Ultrasound in Infants with Transient TSH Elevation Following Referral by Newborn Screening

Mansour Chourouk , Jones Jeremy , Green Morag , Stenhouse Emily , Irwin Greg , Donaldson Malcolm

Background: Infants referred with elevation of capillary TSH on newborn screening are classified as having transient TSH elevation when subsequently found to have normal venous thyroid function tests off treatment with thyroxine. Causes of transient TSH elevation include neonatal sickness, prematurity and maternal thyroid antibodies. There is little information on thyroid size in such infants.Objective: To determine thyroid volume by ultrasound in infant...

hrp0082fc13.4 | Thyroid | ESPE2014

The Prevalence of Congenital Malformations in Infants with TSH Elevation on Newborn Screening: the Importance of Distinguishing Between True and Transient Congenital Hypothyroidism

Ouarezki Yasmine , Mansour Chourouk , Jones Jeremy , alghanay Abubaker , Smith Sarah , Stone David , Donaldson Malcolm

Backgrounds: The prevalence of congenital malformations (CM) is higher in infants referred with capillary (c) TSH elevation on newborn screening. However, establishing the prevalence of CM ± dysmorphic syndromes in true congenital hypothyroidism (CH) requires careful distinction between true and transient CH.Objective: To determine the prevalence of CM ± dysmorphic syndromes in all infants referred with TSH elevation on newborn screening in Sco...

hrp0082p2-d1-591 | Thyroid | ESPE2014

Trends in Median Age at Guthrie Sampling, Laboratory Receipt, Notification, and Start of Treatment for Infants with TSH Elevation on Newborn Screening

Mansour Chourouk , Ouarezki Yasmine , Jones Jeremy , Smith Sarah , Donaldson Malcolm , Mason Avril

Background: Screening for congenital hypothyroidism (CH) has virtually eradicated the severe mental handicap associated with late or absent treatment. We have previously reported two audits of newborn screening for CH between 1979 and 2003 showing significant improvement from the first to more recent period.Objective and hypotheses: We aimed to audit the period 2004–2013 and report trends in timing of sampling, laboratory processing, delay between f...

hrp0084p2-548 | Puberty | ESPE2015

Sensitivity of Measured Parental Height and Target Range in the Diagnosis of Turner Syndrome

Ouarezki Yasmine , Cizmecioglu Filiz , Mansour Chourouk , Jones Jeremy , Gault Emma Jane , Mason Avril , Donaldson Malcolm

Background: Girls with Turner syndrome (TS) are inappropriately short for their parentsÂ’ heights; measured parental height is therefore useful in diagnosis.Objective and hypotheses: To examine the sensitivity of measured parental height in the diagnosis of TS; and to audit the frequency of parental height measurement in our clinic.Method: Case note review of all girls with TS attending our dedicated Turner clinic between 1989&...

hrp0084p2-558 | Thyroid | ESPE2015

Objective vs Subjective Measurement of Thyroid Volume by Ultrasound in Infants Referred with TSH Elevation on Newborn Screening

Mansour Chourouk , Ouarezki Yasmine , Jones Jeremy , Attaie Morag , Stenhouse Emily , Pohlenz Joachim , Donaldson Malcolm

Background: Establishing thyroid size as large, normal or small in newborn infants with TSH elevation and in situ thyroid is important for diagnosis and informing molecular genetic studies.Objective and hypotheses: To compare intra-observer variation in the objective (Ox) measurement of thyroid volume (vol) by ultrasound (US); and the correlation between subjective (Sx) and Ox assessment.Method: Joint blinded retrospective...

hrp0097p1-49 | Diabetes and Insulin | ESPE2023

Quantiferon test versus Tuberculin test to screen for Latent Tuberculosis in Type 1 diabetic children: a single center experience.

Abdel Hamid Ehab , Khater Doaa , Abdelmeguid Yasmine , Mansour Saad , Rabie Rehab , Ibrahim Naglaa

Background: Type 1 DM (T1DM) is a chronic condition characterized by persistent hyperglycemia; which can impair immunity and increase susceptibility to infections. Latent TB infection (LTBI) is a subclinical infection caused by Myobactaeria tuberculosis antigens without clinical, bacteriological or radiological evidence of manifest TB disease. Tuberculin test (TST) is an inexpensive test used to identify LTBI status, but has limitations. False positive TST can...

hrp0098rfc5.3 | Growth and Syndromes | ESPE2024

Neuroradiological Findings in Noonan Syndrome: a multicentric Italian study

Patti Giuseppa , Gabriella Maiorano Nadia , Piccoli Francesca , Grazia Calevo Maria , Tamburrino Federica , Scarano Emanuela , Schiavarello Concetta , Orlandini Eleonora , Pozzobon Gabriella , Baldoli Cristina , Finamore Martina , Grandone Anna , Aiello Francesca , Cirillo Mario , Corica Domenico , Wasniewska Margherita , Cattoni Alessandro , Remida Paolo , Capalbo Donatella , Tortora Fabio , Azzolini Sara , Mansour Mariam , Felicia Faienza Maria , Palladino Stefano , Napoli Flavia , Angelelli Alessia , Di Iorgi Natascia , Rossi Andrea , Maghnie Mohamad , Severino Mariasavina

Background: Data on the neuroradiological findings in Noonan syndrome (NS) are limited.Study Design and participants: Multicentric retrospective observational study conducted in 9 Italian centers of Pediatric Endocrinology. Population includes 112 patients (62 males, 50 females; 73 PTPN11, 8 KRAS, 8 SOS1, 4 LZTR1, 4 RIT1, 4 SHOC2, 3 BRAF, 2 RAF1, 1 ERF, 1 HRAS, 1 MAP2K1, 1 MEK1, 1 PPP1CB, 1 RASA1) with diagnosis of NS ge...

hrp0089p2-p247 | Growth &amp; Syndromes P2 | ESPE2018

GH Unmasked Laryngomalacia and worsened Obstructive Sleep Apnea in Infants with Prader-Willi Syndrome

Salehi Parisa , Wrede Joanna E , Johnson Kaalan E , Chen Maida L

Background: Prader-Willi Syndrome (PWS), due to loss of paternal gene expression on chromosome 15q11.2-13, is characterized by hypotonia, hypothalamic-pituitary dysregulation, abnormal respiratory drive, and hyperphagia. GH, often started in infancy, improves tone, body composition, and height. Concerns about sudden death in children with PWS started on GH, hypothesized secondary to worsening obstructive sleep apnea (OSA) from adenotonsillar hypertrophy, resulted in guidelines...