hrp0094p2-391 | Pituitary, neuroendocrinology and puberty | ESPE2021

Cushing’s disease in paediatric patients: Diagnosis and evolution

Messaoudi Najoua , Assarrar Imane , Bouichrat Nisrine , Karrou Marouan , Rouf Siham , Latrech Hanane ,

Introduction: Cushing’s syndrome is rare in the paediatric population, affecting 0.89 per million children between the ages of 0 and 20 years. The causes of Cushing’s syndrome of endogenous origin are dominated by pituitary causes in 70-95%, with a peripubertal revelation. We report the case of a child followed for Cushing’s disease in the department of Endocrinology-Diabetology-Nutrition of Mohammed-VI University Hospital Center of Oujda, in th...

hrp0082p2-d2-306 | Bone (1) | ESPE2014

Effects of Recombinant Human GH on Bone Mass and Body Composition in Paediatric Inflammatory Bowel Disease

Altowati M A , Shepherd S , McGrogan P , Russell R K , Ahmed S F , Wong S C

Background: rhGH therapy may improve linear growth in children with inflammatory bowel disease (IBD). Poor bone health and abnormal body composition are recognised complications in paediatric IBD.Objective and hypotheses: To investigate the effects of rhGH on bone health and body composition.Method: Sub-analysis of 13 children with IBD (12CD; 1UC) in a randomized controlled trial. Either rhGH (0.067 mg/kg per day) as daily s.c. inj...

hrp0084p3-925 | GH & IGF | ESPE2015

Influence of the -202 A/C IGFBP3 Promoter Polymorphism on Individual Variation in Body Height in Korean Girls

Yang Seung , Shim Young Suk , Kang Min Jae , Oh Yeon Joung , Hwang Il Tae

Background: The most common single nucleotide polymorphism in the IGFBP3 promoter region occurs at position -202. This polymorphic variation occurs frequently and may influence GH responsiveness and somatic growth.Objective and hypotheses: This study aimed to assess the effects of IGFBP3 promoter polymorphism on growth in children.Method: Restriction fragment length polymorphism (RFLP)-based genotyping of the -202 single nucleotide...

hrp0095p1-139 | Multisystem Endocrine Disorders | ESPE2022

“Cushing’s syndrome in a girl with Carney Complex: a case report”

Rivetti Giulio , Caterina Luongo , Aiello Francesca , Miraglia Del Giudice Emanuele , Marzuillo Pierluigi , Di Iorio Giovanni , Pellino Valeria , Grandone Anna

Background: Carney complex (CNC) is a rare autosomal dominant multiple endocrine neoplasia and lentiginosis syndrome, characterized by abnormal cutaneous and mucosal pigmentation, myxomas of the heart, skin, breast and other non-endocrine tumors. CNC is principally caused by loss-of-function mutations of PRKAR1A gene located at 17q22-24 coding for the regulatory subunit type I alpha of protein kinase A (PKA) gene. Cushing’s syndrome is a rare disorder in...

hrp0095p1-75 | Fat, Metabolism and Obesity | ESPE2022

The association between C-reactive protein, metabolic syndrome, and prediabetes in Korean children and adolescents

Hyun Kim Ji , Bin Lee Jong , Sub Lim Jung

Purpose: Metabolic syndrome (MetS) is a state of chronic inflammation, and high-sensitivity C-reactive protein (hsCRP) indicates inflammation. This paper evaluates the association between hsCRP and MetS and its components in Korean children and adolescents.Methods: We analyzed the data of 1,247 subjects (633 males, 14.2 ± 2.7 years) from the Korea National Health and Nutrition Examination Survey (KNHANES) 2016-2017. T...

hrp0092p1-339 | Fat, Metabolism and Obesity (2) | ESPE2019

Elevated High-Sensitivity C-Reactive Protein Level is Associated with Prediabetes and Adiposity in Korean Children and Adolescents.

Shin Sohyun , Kim Jaehyun

Objectives: Obesity is a chronic low-grade inflammatory condition that increases the risk of cardiovascular disease. Elevated high-sensitivity C-reactive protein (hs-CRP) has been associated with cardiovascular disease, type 2 diabetes, and metabolic syndrome in adults. We investigated whether hs-CRP represents a risk factor for obesity and cardiometabolic diseases in Korean children and adolescents using nationally representative data.<...

hrp0097p2-73 | Fetal, Neonatal Endocrinology and Metabolism | ESPE2023

When the infant makes the diagnosis of Biermer's disease of his mother

Kefi Ahlem , Marzouk Asma , Gaarbaa Altaf , Thebti Rahma , Laajili Mariem , Mzoughi Oumaima , Ben Hssine Sarra , Friha Farida , Bouaziz Asma

Introduction: The nutritional status of young breastfed infants is sometimes dependent on the nutritional status of their mothers. Investigation of poor infant weight gain should take into account possible nutritional diseases of the mothers including Biermer's disease.Objective: through a clinical case, remind the importance of exploring the nutritional status of mothers of exclusively breastfed infants with poor w...

hrp0082p3-d1-624 | Adrenals &amp; HP Axis | ESPE2014

Genotype–Phenotype Correlations in Bulgarian Patients with c.293-13A/C>G Splice Mutation of 21CYPA2 Picked up by Neonatal Screening (NS)

Stoeva Iva , Dineva Ganka , Kirov Andrey , Kostova Antoaneta , Todorov Tihomir , Aroyo Ani , Todorova Albena , Mitev Vanio

Background: Congenital adrenal hyperplasia (CAH) comprises a group of autosomal recessive disorders caused by defects in one of the several adrenal steroidogenic enzymes. 80–95% of CAH are due to mutations in CYP21A2 gene encoding 21 hydroxylase. Its residual activity defines the clinical form. Except deletions and large gene conversions, nine pseudogene-derived mutations are responsible for 95% of all CAH alleles. The mutational distribution varies between diffe...

hrp0089p1-p034 | Bone, Growth Plate &amp; Mineral Metabolism P1 | ESPE2018

Is Plasma C-Type Natriuretic Peptide Level Available for Typing and Diagnosis of Skeletal Dysplasia Cases?

Kizilcan Cetin Sirmen , Goksen Damla , Ozen Samim , Alper Hudaver , Isık Esra , Onay Huseyin , Darcan Sukran

Introduction: Skeletal dysplasia is a heterogeneous group of disease, leading to abnormal enchondral ossification and typing of the disease is quite complex. C-type natriuretic peptide (CNP), one of the members of the natriuretic peptide family, has been implicated to play a role in bone development. CNP levels were high in some types of the skeletal dysplasia.Objective: The aim of this study is to evaluate the possibility of using CNP, as a marker for s...

hrp0092p3-260 | Thyroid | ESPE2019

Hashimoto's Thyroiditis in Children: Case Series Report of Three Patients

Trong Thanh Nguyen , Vu Chi Dung , Phuong Thao Bui , Nguyen Ngoc Khanh , Thi Bich Ngoc Can , Thanh Mai Do , Nguyen Thu Ha

Hashimoto's thyroiditis (HT) is most commonly caused by autoimmune thyroid disease and rarely in children. It is characterized clinically by gradual thyroid failure, with or without goiter formation, due to autoimmune-mediated destruction of the thyroid gland involving apoptosis of thyroid epithelial cells. In fact, thyroid function at presentation may significantly vary in the different pediatric reports, ranging from euthyroidism (52.1%) to overt hypothyroidism (41.4...