hrp0092fc6.4 | Bone, Growth Plate and Mineral Metabolism Session 2 | ESPE2019

Metabolically Unhealthy Obese Children and Adolescents Have Higher Bone Mineral Density Than Normal Weighted Controls but Lower than Metabolically Healthy Obeses: No Effect of FGF21 Levels

Akduman Filiz , Siklar Zeynep , Ozsu Elif , Doğan Ozlem , Kir Metin , Berberoglu Merih

Introduction: The harmfull or benefical effect of obesity on bone mineral density (BMD) is remain controversial in children and adolescence. Either increase or decrease of BMD have been reported. Several factors such as insülin resistance, prediabetes, high proportion of fat mass, sedentary lifestyle were suggested to cause the differences of BMD in obesity. FGF-21 is a metabolic factor that plays a specific role in the regulation of carbohydrate and lipi...

hrp0092p2-7 | Adrenals and HPA Axis | ESPE2019

Updates on Genotype and Phenotype of Vietnamese Patients with X-Linked Adrenoleukodystrophy

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

Background: The X linked adrenoleukodystrophy (X-ALD) is a peroxisomal disease caused by defects of the ABCD1 gene on chromosome Xq28. This disease is characterized by progressive neurologic dysfunction, and occasionally associated with adrenal insufficiency. The estimated frequency is about 1:42000 in male, whereas the estimated frequency for heterozygous women is 1:14000. There was no correlation between genotype and phenotype of X-ALD patients....

hrp0095p1-47 | Diabetes and Insulin | ESPE2022

Congenital hyperinsulinism: a case with a missense monoallelic heterozygous ABCC8 mutation responsive partially to diazoxide therapy

Tien Son Do , Phuong Thao Bui , Ngoc Khanh Nguyen , Thi Bich Ngoc Can , Hoang Lan Nguyen , Thi Tu Anh Dao , Trong Thanh Nguyen , Thi Thanh Mai Do , Thi Anh Thuong Tran , Chi Dung Vu

Congenital hyperinsulinism (CHI) is a rare hereditary condition that causes excessive insulin production in the clinical picture of severe hypoglycemia. Patients with CHI frequently have mutations in the ABCC8 and KCNJ11 genes, which code for KATP channels in pancreatic beta cells. We present a case of partial diazoxide responsiveness caused by a heterozygous ABCC8 mutation in a child with moderate CHI. A four-month-old term baby with a ...

hrp0092p2-133 | Fat, Metabolism and Obesity | ESPE2019

Primary Hyperlipidemia in Children: Experience of 11 years from a Referral Center in Vietnam

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

Primary hyperlipidemia is a group of diseases caused by genetic defects involved in the synthesis, transport and metabolism of lipoproteins.Objectives: our aim is to describe the clinical, biochemistry and imagine characteristics of primary hyperlipidemia and to review outcome of management for patients with primary hyperlipidemia.Subjects and Methods: this is case series study including 59 patient...

hrp0092p3-21 | Adrenals and HPA Axis | ESPE2019

Pheochromocytoma in Children: A Case Report

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

Pheochromocytoma (PCC) is a rare tumor arising from the adrenal medulla as well as extra-adrenal paraganglion system and secreting catecholamines causing severe hypertension in children. The gold standard for diagnosis is the measurement of free plasma levels of metanephrines while management evaluates the location and size of the tumor and possible metastatic lesions. Preoperative treatment with alpha blockers, beta blockers and tyrosine hydroxylase inhibitors improves safety...

hrp0089p3-p021 | Adrenals and HPA Axis P3 | ESPE2018

Presenting Features, Clinical Characteristics and Follow up of Familial Isolated Glucocorticoid Deficiency (FGD) due to Mutations in MC2R and MRAP Genes

Ozbek Mehmet Nuri , Karaşin Nezehat Doğan , Demirbilek Huseyin , Demiral Meliha , Baran Rıza Taner , Guran Tulay

Objectives: Familial glucocorticoid deficiency (FGD) is a rare autosomal recessive disorder characterized with isolated glucocorticoid deficiency. Melanocortin receptor 2 (MC2R) mediates the functions of adrenocorticotropic hormone (ACTH) in the adrenal cortex. MC2R accessory protein (MRAP), a transmembrane protein, involves in the trafficking of MC2R to the cell surface. Mutations in MC2R and MRAP genes cause FGD type 1 and 2. Herein, we ev...

hrp0092p3-141 | GH and IGFs | ESPE2019

Treatment Outcome of Growth Hormone in Turner Syndrome Children

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

Background: Turner syndrome (TS) patients frequently have short stature. Females adults with TS are usually 20 cm shorter than normal females. Growth hormone (GH) can improve final height in TS patients.Objective: To evaluate GH therapy for children with Turner syndrome in term of efficacy and side effectPatient and Method: This serial cases study was done in TS patients in a perio...

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...

hrp0089p2-p059 | Bone, Growth Plate & Mineral Metabolism P2 | ESPE2018

Arthrogryposis Multiplex Congenita Type II and Panhypopituitarism

Bideci Aysun , Doğer Esra , Kılınc Uğurlu Aylin , Demet Akbaş Emine , Camurdan Orhun , Cinaz Peyami

Aim: Arthrogryposis Multiplex Congenita type II is an autosomal dominant disease, characterized by multiple congenital contractures in the limbs without a primary neurological deficit. The most frequently observed clinical features are triangular face, palpebral fissures facing downwards, clarity in nasolabial folds, small mouth, high palate, adherent ear lobes, short stature, camptodactyly, ulnar deviations in the fingers, vertical talus and/or talipes equinovarus.<p clas...

hrp0089p3-p042 | Bone, Growth Plate &amp; Mineral Metabolism P3 | ESPE2018


Doğer Esra , Bideci Aysun , Boyunağa Oznur , Kılınc Uğurlu Aylin , Demet Akbaş Emine , Camurdan Orhun , Cinaz Peyami

Aim: Pseudoacondroplasia is a short extremity dwarfism characterized by lifelong arthralgia and early onset osteoarthritis. At birth there is a normal height and face appearance. At the beginning of walking, first symptom is a swaying walking nature. Typically, at second year of life, short height becomes apparent and leads to a disproportionate short-limb appearance. In childhood, joint pain in the broad joints especially in the lower extremities is common. Degenerative joint...