hrp0086rfc1.4 | Adrenals | ESPE2016

Mutations of ABCD1 in 16 Vietnamese Patients with X-linked Adrenoleukodystrophy

Vu Dung , Nguyen Ngoc Khanh , Nguyen Thu Ha , Bui Phuong Thao , Can Thi Bich Ngoc , Nguyen Phu Dat , Shimozawa Nobuyuki

Background: X-linked adrenoleukodystrophy (X-ALD) is caused by a defect in the gene ABCD1, which maps to Xq28 and codes for a peroxisomal membrane protein that is a member of the ATP-binding cassette transporter superfamily. This disease characterized by progressive neurologic dysfunction, occasionally associated with adrenal insufficiency.Objective and hypotheses: To identify mutations of gene ABCD1 in Vietnamese patients with X-ALD.</...

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....

hrp0097fc5.3 | Diabetes and insulin 1 | ESPE2023

How feasible is it to meet the Time in Tight Range (TITR) target with Automatic Insulin Delivery (AID)?: 2128-day real-world data from a single center

Eviz Elif , Ecem Killi Nesrin , Ege Karakus Kagan , Can Ecem , Gokce Tugba , Yesiltepe Mutlu Gul , Hatun Sukru

Introduction: With the development and use of automated insulin delivery (AID) technologies like Advanced Hybrid Closed Loop (AHCL or Minimed 780G) system, it becomes possible to achieve tighter glycemic control. A new parameter called “Time in Tight Range” (TITR, 70-140 mg/dL) has been proposed to evaluate glycemic control in the latest consensus on the use of continuous glucose monitoring (CGM) data in diabetes research. This study aims to assess...

hrp0086p1-p375 | Gonads &amp; DSD P1 | ESPE2016

Can we Standardize Sex Assignment in 45,X/46,XY Mixed Gonadal Dysgenesis?

Colindres Johanna Viau , Eugster Erica , Smith O'Brian , Gunn Sheila , Mendiratta Meenal , Karaviti Lefkothea

Background: Patients with 45,X/46,XY mixed gonadal dysgenesis (MGD) have variable phenotypes leading to both male and female sex assignments. A multidisciplinary team should guide the process of sex assignment, however a standardized approach may provide objective guidance for the team as well as a tool for settings without such resources. One of the most important considerations for sex assignment is the hormonal production, which often determines the degree of virilization. ...

hrp0084p2-238 | Bone | ESPE2015

Can Vitamin D Deficiency Cause Prolongation in Visual Evoked Potentials?

Dogan Murat , Aydin Ilyas , Kaba Sultan , Bala Keziban Asli , Gulpinar Ozlem

Objective: It is known that vitamin D has differential roles in cell proliferation, differentiation, neurotransmission and neuroplasticity in nervous system and exerts neurotrophic and neuroprotective effects. In recent studies, it was shown that vitamin D could be protective against in age-related macular degeneration and optic neuritis related to demyelinating disorders. Here, we aimed to perform visual evoked potential (VEP) studies before treatment in patients with rickets...

hrp0094p1-75 | Fetal Endocrinology and Multisystem Disorders A | ESPE2021

Congenital hyperinsulinism diagnosed after 12 months can have a monogenic aetiology

Hopkins Jasmin , Childs Alexandra , Hewat Thomas , Patel Kashyap , Houghton Jayne , Johnson Matthew , Laver Thomas , Flanagan Sarah ,

Background: Congenital hyperinsulinism (HI) is characterised by inappropriate insulin secretion despite low blood glucose which is commonly diagnosed in infancy (before the age of 12 months). Screening of the >20 known genes identifies a mutation in over 45% of cases. The likelihood of identifying a mutation in a known gene in individuals diagnosed after 12 months is not currently known.Aim: We aimed to identify the ...

hrp0098p3-208 | Pituitary, Neuroendocrinology and Puberty | ESPE2024

Can InhibinB and AMH measurements help in the differential diagnosis of HHI?

Angrisani Esther , D'Alvano Tiziana , Criscuolo Sabrina , Di Fiore Giovanni , Mauro Carolina

Background: Early identification of idiopathic hypogonadotropic hypogonadism (HHI) and constitutional pubertal delay is quite challenging for pediatricians. In males, serum inhibin B levels are detectable throughout life, with marked changes during puberty. We present the case of a young male with GHD in rhGH treatment without progression in Tanner pubertal stages during follow-up.Case report: A fourteen-year-old male pa...

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...

hrp0089p3-p175 | Fetal, Neonatal Endocrinology and Metabolism P3 | ESPE2018

Neonatal Diabetes Mellitus in Vietnam National Children Hospital

Ngoc Can Thi Bich , Dung Vu Chi , Thao Bui Phuong , Khanh Nguyen Ngoc , Mai Do Thi Thanh , Ellard Sian , Jayne Houghton , Flanagan Sarah , Mackay Deborah , Hoan Nguyen Thi

Introduction: 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, transient NDM (TNDM) and permanent NDM (PNDM).Objective: To describle clinical features and laboratory manifestations of patient with NDM and evaluate outcome of management.Subject and method...