hrp0086p2-p868 | Syndromes: Mechanisms and Management P2 | ESPE2016

Pubertal Development and Final Height in Some Rare Genetic Diseases

Mazzanti Laura , Casto Celeste , Tamburrino Federica , Perri Annamaria , Guidetti Monica , Emanuela Scarano

Background: Pubertal growth, age of puberty onset and pubertal spurt duration are correlated to final height (FH). Few data are available in subjects with rare genetic syndromes.Objective and hypotheses: To evaluate pubertal pattern and its influence on FH in subjects with different genetic syndromes including the effect of GH-therapy for GH deficiency (GHD) and GnRH analogs for precocious puberty (PP).Method: We studied for growth...

hrp0086p2-p934 | Thyroid P2 | ESPE2016

Thyroid Function in Children Affected By Congenital Hypothyroidism (CH) with Eutopic Thyroid After Discontinuation of Treatment with Levothyroxine

Poggi Elena , Gastaldi Roberto , Muraca Monica , Perri Katia , Pistorio Angela , Maghnie Mohamad

Objective and hypotheses: We analysed the prevalence of transient hypothyroidism in a cohort of children affected by CH with eutopic thyroid after Levothyroxine discontinuation.Method: 77 newborns (36 females, 41 males) affected by CH with eutopic thyroid from 1999 to 2011 were enrolled. The confirmation diagnosis of CH after screening was made within the first 15 days of life by assessing TSH value (mean 74.4±82.2 μU/ml n.v 0.5–4.2) and f...

hrp0082p2-d3-399 | Fat Metabolism & Obesity (2) | ESPE2014

Is Small for Gestational Age Status Associated with an Increase Risk of Atherogenesis?

Stroescu Ramona , Micle Ioana , Marazan Monica , Marginean Otilia , Bizerea Teofana , Doros Gabriela

Background: The ‘catch-up growth’ phenomenon in children born small for gestational age (SGA) has been linked to early onset obesity with the subsequent emergence of metabolic syndrome (MetS). The intima media thickness of the common carotid artery (CIMT) is a well-known marker of subclinical atherosclerosis.Objective and hypotheses: To determine the association between being born SGA and CIMT, a measure of atherogenesis and to investigate meta...

hrp0082p3-d1-952 | Sex Development | ESPE2014

Discordant Genotypic Sex and Concordant Phenotypes in Two Spanish Siblings with 17α-Hydroxylase/17, 20-Lyase Deficiency Carrying the Most Prevalent Mutated Alleles in Brazilian Patients

Audi Laura , Fernandez-Cancio Monica , Melon-Pardo Marta , Garcia-Garcia Emilio

Background: 17α-Hydroxylase/17,20-lyase deficiency is a rare form of congenital adrenal hyperplasia caused by mutations in CYP17A1, characterized by reduction of androgens, estrogens and cortisol production and mineralocorticoid excess.Objective and hypotheses: To describe the clinical and molecular characteristics of two sisters with 17α-hydroxylase/17, 20-lyase deficiency.Method: Two sisters, phenotypic females...

hrp0084p3-817 | Endocrine Oncology | ESPE2015

Two Synchronous Central Nervous System Tumors in a Child with Neurofibromatosis Type 1

Cornean Rodica Elena , Scutariu Monica , Ungureanu Gheorghe , Farcau Dorin , Florian Stefan

Background: Synchronous, multiple central nervous system (CNS) tumors are usually rare in pediatric patients. Pilocytic astrocytomas are the major type of CNS tumors in neurofibromatosis type 1 (NF1).Case presentation: A 6.5-year-old boy was admitted to our hospital for severe emaciation. Profound fat and muscle wasting were the only prominent clinical features. His growth rate was preserved despite his rapid dramatic weight loss (HT: 118 cm, P....

hrp0084p3-819 | Endocrine Oncology | ESPE2015

Early Endocrine Complications in Survivors of Childhood Malignant Tumours

Sanchez-Gonzalez Cristina , Andrades-Toledo Monica , Cardeno-Morales Alvaro , Torralbo-Carmona Alicia , Garcia-Garcia Emilio

Background: The progress made in the treatment of childhood cancer has resulted in better long-term survival rates. Therefore sequelae of treatment have become more important.Objective and hypotheses: To investigate the prevalence of early endocrine disorders in survivors of a childhood tumour within the 1st years after diagnosis.Method: We performed a retrospective medical record review of survivors followed at the endocrine clini...

hrp0084p3-1203 | Thyroid | ESPE2015

Newborns of Mothers with Graves’ Disease: Survey of 14 Years

Cardoso Rita , Jeronimo Monica , Caetano Joana Serra , Dinis Isabel , Mirante Alice

Background: Graves’ disease (GD) is the most common cause of hyperthyroidism in fertile woman and can cause fetal and neonatal hyper or hypothyroidism. It is associated with transplacental transfer of maternal thyrotropin receptor antibodies (TRAb).Objective and hypotheses: The main objective of this study was to characterize the neonates born to women with GD followed in a pediatric endocrinology reference unit.Method: A retr...

hrp0095fc7.2 | Growth and Syndromes | ESPE2022

Post-hoc subgroup analysis of the pivotal phase 3 study of once-weekly somatrogon vs once-daily Genotropin: results from subjects with peak stimulated growth hormone value <6.7 ng/ml

Phillip Moshe , Deal Cheri , Silverman Lawrence , Henocque Robin , Nijher Monica , Wajnrajch Michael , Wang Ronnie , Cara Jose

Objectives: Somatrogon is a long-acting recombinant human growth hormone (GH) approved by the EMA as a once weekly treatment for children with GH deficiency (GHD). The peak stimulated GH cut-off value for diagnostic criteria for GHD varies according to country-specific guidelines. The objective of this subgroup analysis of the pivotal phase 3 somatrogon study was to evaluate the primary and secondary efficacy endpoints for subjects with a peak GH value <6.7...

hrp0095lb5 | Late Breaking | ESPE2022

Incidence and Severity of Type 1 Diabetes Mellitus during COVID-19 Pandemic

Dieguez Abigayil , DeLacey Sean , Lado Juan , Levin Laura , Ranganna Adesh , Wu Margaret , E. Bianco Monica

Background: The COVID-19 pandemic continues to impact healthcare overall particularly in relation to diabetes. Initial studies showed delays in emergent healthcare utilization, decreased preventative care visits, and more severe presentations of new onset diabetes. However, the pathophysiologic relationship between COVID-19 and type 1 diabetes is not yet well understood.Objectives: Our primary objective was to compare th...

hrp0095lb22 | Late Breaking | ESPE2022

Maternal and Cord Blood Metabolites Associations with Childhood Glucose Outcomes in the Hyperglycemia and Adverse Pregnancy Outcome Follow-up Study.

E. Bianco Monica , Hai My , Scholtens Denise , Josefson Jami , Lowe William , Jr

Background: Maternal triglycerides, fatty acids, and their metabolites together with sugars and metabolic intermediates may play a role in newborn outcomes. Furthermore, maternal amino acids, acylcarnitines, lipids and fatty acids and their metabolites are associated with cord C-peptide independent of maternal BMI and glycemia, highlighting the potential contribution of maternal metabolites to offspring outcomes. This study examined the associations of materna...