hrp0098p2-167 | Growth and Syndromes | ESPE2024

Kenny - Caffey syndrome type 2 - uncommon cause of short stature

Thu Ha Nguyen , Chi Dung Vu , Phuong Thao Bui , Ngoc Khanh Nguyen , Thi Bich Ngoc Can

Kenny-Caffey syndrome type 2 (KCS 2) is an extremely rare autosomal dominant genetic disorder characterized by proportionate short stature, hypoparathyroidism, skeletal dysplasia and facial deformities. It is caused by variants in FAM111A gene. The clinical manifestations of KCS2 are atypical and diverse. We present two cases with KCS 2 with short stature, skeletal deformities and eye abnormalities confirmed by genetic analysis. The first patient came to our hospital ...

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...

hrp0084p3-690 | Diabetes | ESPE2015

Neonatal Diabetes Mellitus: Clinical Feature and Outcome

Thi Bich Ngoc Can , Chi Dung Vu , Phuong Thao Bui , Ngoc Khanh Nguyen , Craig Maria , Ellard Sian , Thi Hoan Nguyen

Background: Neonatal diabetes mellitus (NDM) is a rare (1:300 000–400 000 newborns) but potentially devastating metabolic disorder characterized by hyperglycemia combined with low levels of insulin. Two main groups have been recognized on clinical grounds, transient NDM (TNDM) and permanent NDM (PNDM).Objective and hypotheses: To describe clinical features and laboratory manifestations of patient with NDM and evaluate outcome of management.<p cl...

hrp0084p3-726 | Diabetes | ESPE2015

Neonatal Diabetes Mellitus due to Insulin Gene Mutation

Thi Bich Ngoc Can , Chi Dung Vu , Phuong Thao Bui , Ngoc Khanh Nguyen , Craig Maria , Ellard Sian , Thi Hoan Nguyen

Background: Neonatal diabetes is a rare disorder with an incidence of between 1 in 215 000–500 000 live births with approximately 50% having permanent neonatal diabetes (PNDM). Insulin gene (INS) mutations have recently been described as a cause of PNDM.Objective and hypotheses: To describe clinical features and laboratory manifestations of patient with PNDM due to INS gene mutation and evaluate outcome of management....

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...

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 ...