hrp0095p1-92 | Fetal, Neonatal Endocrinology and Metabolism | ESPE2022

Reference National Standards for Placental Weight in Infants born between the 37th and 43rd weeks of Gestation in Qatar. (A Population-Based Retrospective Data Analysis (n = 80722).

Alyafei Fawzia , Al-qubasi Mai , Soliman Ashraf , Ali Hamdy , Olukade Tawa , Alturk Mohamad , Alaaraj Nada , Hamed Noor , Ahmed Shayma

Introduction: Because of the associations and links between abnormal placental weight and both fetal and maternal disorders, it is important to have the national normal standard for placental weight as a normality reference.Aims: To find out the national placental weight standards for babies born between 37th and 43rd weeks of gestation in all groups of males and females babies born AGA, SGA, and LGA.<p class="abstex...

hrp0092p1-391 | Growth and Syndromes (to include Turner Syndrome) (2) | ESPE2019

Foramen Magnum Stenosis (FMS): Neuroradiological Aspects before and after Cervical Decompression in Paediatric Patients with Achondroplasia (ACH).The 'Achondroplasia Multidisciplinary Gaslini's Group' (AMGG) Istituto Giannina Gaslini, Genova, Italy: Child Neuropsychiatry Unit, Neuroradiology Unit, Department of Paediatrics, Neurosurgery Unit, Orthopedic Unit, Rehabilitation Unit, Pulmonary Disease and Allergy Unit.

Allegri Anna Elsa Maria , Di Iorgi Natascia , Napoli Flavia , Patti Giuseppa , Siri Giulia , Severino Mariasavina , Piatelli Gianluca , Maghnie Mohamad

The identification of anamnestic, clinical and instrumental data indicative of pathological FMS plays a pivotal role in the prevention of ACH complications.Objective: identify key cranio-cervical junction(CCJ)neuroradiological features for the surgical choice and for the neuroradiological decompression outcome.Methods: from a total of 191 patients, we selected 24 subjects with ACH (age:<4years)...

hrp0086p1-p128 | Bone &amp; Mineral Metabolism P1 | ESPE2016

Childhood Cancer Survivors (CCS) are at High Risk of Reduced Bone Mass During the Second Decade of Life

Di Iorgi Natascia , Morsellino Vera , Gallizia Annalisa , Pistorio Angela , Cerone Federica , Tallone Ramona , Haupt Riccardo , Maghnie Mohamad

Background: Childhood cancer survivors (CCS) are at risk for low bone mineral density (BMD).Objective: Aim of our study was to evaluate the prevalence of low BMD and it’s determinants in a single-center cohort of CCS.Method: One-hundred-eighty-five CCS (103M, 84F) diagnosed with liquid-LT-(n=48), solid-ST-(n=88) and brain tumor-BT-(n=51) at the age of 5.3±3.2 years underwent height, BMI (SDS), T...

hrp0084p2-237 | Bone | ESPE2015

Intrauterine Growth Restriction, Gestational Age, Steroidal Prophylaxis and Breastfeeding Influence Bone Mass in Prepubertal Children

Calcagno Annalisa , Pala Giovanna , Allegri Anna Elsa Maria , Napoli Flavia , Fratangeli Nadia , Calevo Maria Grazia , Maghnie Mohamad , Di Iorgi Natascia

Background: The impact of prematurity on skeletal health later in life is not well elucidated.Objective and hypotheses: In order to address this topic we evaluated bone mass in ex-preterm (PT) and born at term (BT) prepubertal children and potential risk factors for bone health.Method: DXA measures of total body less head and lumbar spine mineral density (TB/L1-L4 BMD, g/cm2 and z-score), bone mineral content (T...

hrp0094p1-172 | Growth Hormone and IGFs B | ESPE2021

Glucagon Testing of Childhood-Onset Growth Hormone Deficiency during Transition

Guglielmi Davide , Napoli Flavia , Allegri Anna Elsa Maria , Patti Giuseppa , Fava Daniela , Crocco Marco , Maghnie Mohamad , Di Iorgi Natascia ,

Objectives: To reassess growth hormone (GH) status by the means of Insulin (ITT) and Glucagon tests (GL) in young adults with childhood-onset GHD.Methods: We present preliminary data of 67 subjects (25F, 42M) recruited from a single Center, in whom anthropometrics, ITT and GL stimulation tests and IGF-1 evaluations were undertaken at adult height achievement, at a mean age of 17.3±2.2 (range: 13.3-25.7). Subjects we...

hrp0097p1-506 | Growth and Syndromes | ESPE2023

Characteristics, effectiveness and safety data for patients with growth failure treated with recombinant IGF-1 and achieving adult or near-adult height: results from the Increlex® Global Registry

Bang Peter , Ramón Krauel Marta , Maghnie Mohamad , Woelfle Joachim , Sert Caroline , Perrot Valérie , Pennestri Daniele , Polak Michel

Background: severe primary insulin-like growth factor-1 deficiency (SPIGFD) is a rare growth disorder. Recombinant human insulin-like growth factor (IGF-1) (rhIGF-1; Increlex® [mecasermin]) replacement therapy is EU and US-approved for treating growth failure due to SPIGFD. The long-term therapeutic objective of rhIGF-1 treatment in SPIGFD is to improve adult height (AH). Objective: to describe the characteristics, safety and effectiveness data ...

hrp0082p2-d3-440 | Growth Hormone (2) | ESPE2014

Two-Year Data from a Long-Term, Phase IV Study of Omnitrope®, a Recombinant Human GH, in Short Children Born Small for Gestational Age

Schwarz Hans-Peter , Birkholz-Walerzak Dorota , Szalecki Mieczyslaw , Walczak Mieczyslaw , Galesanu Corina , Metreveli David , Khan-Boluki Jasmin , Schuck Ellen

Background: Children born small for gestational age (SGA) are predisposed to metabolic abnormalities. While the therapeutic benefit of recombinant human growth hormone (rhGH) therapy in improving height is widely recognised, it can affect carbohydrate metabolism, potentially inducing diabetes.Objective and hypotheses: This ongoing, prospective study aims to evaluate the long-term safety and efficacy of Omnitrope® (somatropin) in children ...

hrp0082p2-d3-500 | Perinatal and Neonatal Endocrinology | ESPE2014

The Contribution of Maternal Malaria Exposure and Metabolic Markers to Change in Blood Pressure in Nigerian Children over the First 3 Years of Life

Farikullah-Mirza Jasmin , Whatmore Andrew , Ayoola Omolola , Omotade Olayemi , Butcher Imogen , Soran Handrean , Cruickshank Kennedy , Clayton Peter

Background: In Nigeria, where malaria is endemic, hypertension is common. We reported that exposure to maternal malaria resulted in smaller babies with lower BP at birth, but a greater change (Δ) in BP to 12 months of age.Objective and hypotheses: To now present BP measurements out to 3 years of age.Method: Height, weight, and blood pressure (BP) were measured on 164 babies (75 males and 89 females) at birth, 12, 24, and 36 mo...

hrp0092p2-2 | Adrenals and HPA Axis | ESPE2019

CYP11A1 (Side-chain Cleavage Enzyme) Defect in Three Brothers Causing Glucocorticoid and Mineralocorticoid Deficiency and Development of Testicular Adrenal Rest Testicular Tumour

Kallali Wafa , Gray Ewan , Mehdi Muhammad Zain , Lindsay Robert , Metherell Lou , Buonocore Federica , Achermann John , Donaldson Malcolm

Background: CYP11A1 gene encodes the cholesterol side-chain cleavage enzyme, P450scc, which plays a key role in the initial steps of steroidogenesis. CYP11A1 insufficiency lead to a variable phenotype ranging from severe early onset primary adrenal insufficiency (PAI) in the neonatal period,with 46,XY DSD; to late-onset PAI with normal genitalia.Objective: Detail the phenotype of a family sharing newly described...

hrp0094p2-63 | Bone, growth plate and mineral metabolism | ESPE2021

Diagnostic Challenges of Vitamin D-Dependent Rickets Type 1A (VDDR1A) caused by CYP27B1 mutation in Resource Limited Countries: A Case Series from Three families

Aftab Sommayya , Shaheen Tahir , Nadeem Anjum Muhammad , Imran Ahmed , Saeed Anjum , Ali Qureshi Abid , Cheema Huma Arshad ,

Background & Aim: Vitamin D-dependent rickets type 1 A (VDDR1A) is an autosomal recessive condition caused by mutation in CYP27B1, which encodes 1 α-hydroxylase enzyme that catalyzes the conversion of 25-hydroxyvitamin D (25OHD) to 1,25-dihydroxyvitamin D (1,25 (OH)2D). We are reporting 4 cases of VDDR1A due to CYP27B1 mutation initially misdiagnosed as vitamin D deficient and hypophosphatemic rickets.<p class="abstext...