ESPE Abstracts

ESPE Abstracts

Published by BioScientifica

Page 14 of about 226 results

hrp0089rfc2.5 | Bone, Growth Plate & Mineral Metabolism 1 | ESPE2018

Identification of Characteristic Neurological Complications in Infants with Achondroplasia by Routine MRI Screening

Dougherty Harry , Shaunak Meera , Irving Melita , Thompson Dominic , Cheung Moira S

Background: Achondroplasia is the commonest type of skeletal dysplasia with an incidence of 1 in 20,000 and is due to recurrent and dominantly transmitted, activating mutations in Fibroblast Growth Factor Receptor 3 (FGFR3). Complications during infancy include foramen magnum stenosis and hydrocephalus which may lead to neurological morbidity and sudden unexplained mortality. Early detection and appropriate neurosurgical management can prevent these complications. How...
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hrp0089p2-p367 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology P2 | ESPE2018

A Rare Form of Ovotesticular DSD: Diagnostic and Management Challenges

Narayan Kruthika , Alderson Julie , Nicoll Nicky , Nicholls Guy , Smithson Sarah , Crowne Elizabeth

We report mosaic triploidy 69XXY/46XX in ovotesticular DSD which poses significant diagnostic and management questions.Case: A baby born to non-consanguineous parents after a normal pregnancy, presented with atypical genitalia including significant clitoromegaly, a urethral opening in the anterior perineum and a normal vaginal opening. Bilateral masses were noted in the labio-scrotal folds. Pelvic ultrasound identified a normal uterus however the gonads ...
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hrp0094p1-47 | Sex Endocrinology and Gonads A | ESPE2021

STK11 gene variant (Peutz-Jeghers Syndrome) presenting with unilateral pre-pubertal gynaecomastia and macro-orchidism without muco-cutaneous pigmentation or gastrointestinal symptoms.

Shaunak Meera , Side Lucy , Afzal Nadeem , Davies Justin ,

Introduction: We report two siblings presenting with pre-pubertal gynaecomastia and macro-orchidism, who were later diagnosed with Peutz-Jeghers Syndrome (PJS) secondary to a STK11 gene variant. Importantly neither child fulfilled the clinical criteria for diagnosis at presentation, with no muco-cutaneous pigmentation nor gastrointestinal symptoms.Case report: Sibling 1 was referred to Paediatric Endocrinology aged 4 years with ...
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hrp0094p2-262 | Growth hormone and IGFs | ESPE2021

A Survey on Clinician Perceptions of Long-Acting Growth Hormone Analogs

Howard-James Naomi , Padidela Raja , Raimann Adalbert , Gevers Evelien , Semler Oliver , McDonnell Ciara ,

Background: Daily recombinant human growth hormone (rhGH) has been utilized since 1985 and has been proven to increase height velocity and improve body composition in growth hormone deficiency, various genetic syndromes and chronic kidney disease. Safety and efficacy are well established. Long-acting growth hormone (LAGH) analogs have been developed to improve compliance and patient experience. There are several LAGH preparations in development or early commer...
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hrp0095p1-572 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2022

Long-term GnRHa use and bone health in transgender adolescents: can a mouse model inform clinical practice?

Ciancia Silvia , Dubois Vanessa , Claessens Frank , Craen Margarita , Doms Stefanie , El Kharraz Sara , Kim Nari , Klink Daniel , Vanderschueren Dirk , Cools Martine

Background: Transgender individuals increasingly present at gender services in childhood. Consequently, to suppress pubertal development, more adolescents are long-term exposed to gonadotropin-releasing hormone analogues (GnRHa), from onset of puberty until start of gender-affirming hormones (GAH), around 16 years. Prolonged GnRHa may compromise bone health more than shorter-term treatment. If earlier start of GAH, when psychologically indicated, may partially...
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hrp0097p2-190 | Adrenals and HPA Axis | ESPE2023

Evaluation of two cases with 46,XX and 46,XY karyotypes diagnosed with 17α-hydroxylase deficiency

Kurt Ilknur , Sagsak Elif , Murat Nurhan , Gurpinar Tosun Busra , Helvacioglu Didem , Yavas Abali Zehra , Kahveci Ahmet , Kelestemur Elif , Haliloglu Belma , Turan Serap , Bereket Abdullah , Guran Tulay

Introduction: 17α-hydroxylase deficiency (17OHD) is a rare form of congenital adrenal insufficiency characterized with decreased cortisol and sex steroid biosynthesis, overproduction of ACTH, and increased mineralocorticoids. The overproduction of corticosterone hinders the symptoms of glucocorticoid deficiency and causes sodium retention, hypertension, and hypokalemia in severe cases. Affected 46,XX and 46,XY individuals are phenotypically female in the...
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hrp0092fc3.5 | Multi-system Endocrine Disorders | ESPE2019

Evaluation of Endocrine Late Effects in Survivors of Childhood Allogeneic Hematopoietic Stem Cell Transplantation in Australia – Database from 1985 to 2011

Lai-Ka Lee Samantha , Tiedemann Karin , Zacharin Margaret

Background: With improved survival of childhood allogeneic hematopoietic stem cell transplant (HSCT), there is increasing need for surveillance, including assessment of endocrine late effects in this cohort1,2.Aim: To evaluate endocrine late effects after chemotherapy and radiation in survivors of childhood allogeneic HSCT.Methods: Multi-site evaluation via medical recor...
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hrp0095p1-479 | Fat, Metabolism and Obesity | ESPE2022

4D-Blood+ Proteomic Profiling of Obesity and Metabolic Syndrome in Adolescents

Objective: Obesity accounts for 8.9% of children and adolescents in China, and metabolic syndrome (MetS) accounts for 28.8% of obese children, rising year by year. There is no early prediction and screening index in the clinic, so it is urgent to develop early prediction of MetS in children and adolescents and screen pathogenic molecular markers. Therefore, we propose to establish and screen biomarkers for the prognosis of obesity in children and adolescents t...
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hrp0092p1-428 | Thyroid (2) | ESPE2019

Anti-Gastric Parietal Cells Antibodies for Autoimmune Gastritis Screening: A Follow-Up Study in Young Patients with Autoimmune Thyroid Disease.

Calcaterra Valeria , Montalbano Chiara , Vinci Federica , Miceli Emanuela , Regalbuto Corrado , Albertini Riccardo , Larizza Daniela

Introduction: The association between ATD and AIG is very poorly characterized in pediatric age. We review the prevalence of the anti-gastric parietal cells antibodies (APCA) in young patients with ATD and we evaluated the development of AIG during follow-up, in order to define the usefulness of these markers for AIG screening in these patients.Patients and Methods: We evaluated 220 children and adolescents (11.28 ±...
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hrp0092p2-114 | Fat, Metabolism and Obesity | ESPE2019

Five Years' Follow-up of the Effect of Sex Steroid Hormone on Lipid and Glucose Metabolism in Girls with Turner Syndrome

Guo Song , Li Yanhong , Zhang Jun , Chen Qiuli , Ma Huamei , Chen Hongshan , Du Minlian

Objective: We sought to evaluate the role of long-term HRT on the lipid profile and glucose metabolism in girls with TS.Design: A pre-test/post-test observational study.Seting: Pediatric TS clinic in The First Affiated Hospital, Sun Yat-sen University.Patients: 56 girls with TS had accurate maintenance HRT data....
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