Annals of Pediatric Endocrinology & Metabolism

PURPOSE: This study aims to provide the prevalence data of vitamin D deficiency in Indonesian children and adolescents. MATERIALS AND METHODS: This is a meta-analysis of prevalence using the Hartung-Knapp-Sidik-Jonkman method for its random effect model. A prediction interval was used to estimate the true effects. We searched Pubmed, MEDLINE, Cochrane Library, Science Direct, Google Scholar and three Indonesian databases (Indonesian Scientific Journal Database, Neliti, and Indonesia One Search)...

PURPOSE: Patients with Turner syndrome have distinct neurocognitive and psychosocial characteristics. However, there are limited clinical studies on neuropsychological findings in Korean patients. This study investigated the neurocognitive and psychosocial profiles of Korean children with Turner syndrome. METHODS: This retrospective cross-sectional study included 20 pediatric patients with Turner syndrome aged<18 years at the Department of Pediatric Endocrinology at Yonsei University Severance Children's Hospital in South Korea, from January 2016 to March 2019...

Familial hypobetalipoproteinemia is an autosomal dominantly inherited disorder of lipid metabolism characterized by a <5th percentile plasma levels of low-density lipoprotein cholesterol or total apolipoprotein B, caused by mutations in the APOB gene. Patients with heterozygous APOB-related familial hypobetalipoproteinemia are usually asymptomatic or manifest with mild liver dysfunction or hepatic steatosis. A 14-year-old Korean boy was referred to our clinic because of low low-density lipoprotein cholesterol and elevated aminotransferase levels...

PURPOSE: At 3 years of age, when growth inhibition due to birth history is compensated, the height is considered a major prognostic factor for evaluating short stature, underweight, and growth faltering in the future. However, large-scale studies that have followed and analyzed the height, weight, and body mass index (BMI) change in short stature at 3-year-old children are insufficient. This study followed-up and compared the growth parameters (height, weight, and BMI) for six years after birth between children with short statue at 3-years-old group and children with non-short stature at 3-years-old group in a nationwide population-based scale...

PURPOSE: To investigate the effects and side effects of once weekly dulaglutide treatment for type 2 diabetes mellitus (T2DM) in patients under the age of 18 years in Korea. METHODS: From the Eulji University Hospital database, we identified all patients under the age of 18 years diagnosed with T2DM and treated with dulaglutide from January 1, 2017 to July 31, 2022. RESULTS: We identified five patients under the age of 18 years treated with dulaglutide for T2DM management...

We experienced a rare case of an 8-year-old girl with a diagnosis of DICER1 syndrome. The patient exhibited renal and thyroid symptoms. On family history, the patient's maternal grandmother and aunt had a diagnosis of multinodular goiter. The patient underwent whole exome sequencing (WES) to examine whether she had cancer predisposition syndrome, including DICER1 syndrome. This showed a heterozygous missense mutation, c.3506C>G (p.S1169*), in exon 21 of the DICER1 gene. Sanger sequencing was performed to confirm the DICER1 variant detected by WES and to examine whether the patient's family members had a mutation in the same DICER1 exon...

PURPOSE: There are no definite guidelines on the optimal dosage of gonadotropin-releasing hormone (GnRH) agonist for treatment of central precocious puberty (CPP). We compared growth outcomes of GnRH agonist at different dosages in girls with idiopathic CPP to assess the optimal dosage. METHODS: This retrospective study included 86 girls with idiopathic CPP who had been treated with GnRH agonist at least for 1 year and had attained their final adult height. Leuprolide was given as fixed dosage (3...

PURPOSE: Androgen insensitivity syndrome (AIS) is a rare X-linked recessive disorder caused by unresponsiveness to androgen because of mutations in the AR gene. Here, we investigated the clinical outcomes and molecular spectrum of AR variants in patients with AIS attending a single academic center. METHODS: This study included 19 patients with AIS who were confirmed by molecular analysis of AR. Clinical features and endocrinological findings were retrospectively collected, including presenting features, external genitalia, sex of rearing, timing of gonadectomy, pubertal outcomes, and sex hormone levels...

BACKGROUNDS: Diabetic neuropathy (DN) is a serious complication in diabetes mellitus. We aimed to determine the prevalence of DN in pediatric-onset diabetes in a tertiary care center and assess the sensitivity and specificity of monofilament test and non-invasive screening to diagnose DN compared with the gold standard nerve conduction studies (NCS). METHODS: Sixty-five Thai children and adolescents (39 females), diagnosed with diabetes before 15 years old were included...

BACKGROUND: Type A insulin resistance syndrome is a rare congenital disorder caused by insulin receptor dysfunction arising from heterozygous mutations in the insulin receptor (INSR) gene. It is usually diagnosed in non-obese female adolescents with insulin resistance, acanthosis nigricans, or ovarian hyperandrogenism. METHODS: We present the case of a 14-year-old adolescent girl with non-obesity diabetes and insulin resistance; however, she had no acanthosis nigricans, or menstrual abnormalities...

Turner syndrome (TS) is a relatively common chromosomal disorder characterized by short stature, ovarian failure, and multiple congenital anomalies. Xp deletion is rarely reported as an etiology of TS, and in most cases, the characteristic features are lacking. Therefore, we present a case of a 33-month-old girl who was admitted due to a developmental delay: she had short stature and Müllerian agenesis. We used a chromosomal microarray and confirmed Xp22.33-p11.3 deletion and 7p22.3-q11.21 duplication...

The CHD8 mutation was initially identified as the cause of autism spectrum disorder (ASD) and was previously marked as Autism, susceptibility to, 18 [MIM 615032] on Online Mendelian Inheritance in Man (OMIM). As many patients with CHD8 mutation showed other characteristics along with autism, the phenotype was relabeled as intellectual developmental disorder with autism and macrocephaly (IDDAM) in May 2022. We report a 3-year 10-month-old boy who presented with overgrowth, intellectual disability, dysmorphic facial features, and ASD...

PURPOSE: To evaluate the characteristics and frequency of remission in pediatric patients with Graves' disease (GD) treated with antithyroid drug (ATD) and to identify factors that may be associated with relapse. METHODS: Medical records of patients younger than 19 years who presented to the Department of Pediatrics of Queen Elizabeth Hospital Hong Kong with newly diagnosed GD from 1st January 2007 to 31st December 2017 were retrospectively reviewed. Remission was defined as euthyroidism for 12 months or more after discontinuation of ATD treatment and no relapses during the follow-up period...

The oral sodium-glucose cotransporter 2 inhibitor, dapagliflozin, is used to treat kidney disease, heart failure, and diabetes in adults, but has not been well studied in pediatrics, and does not have a recognized place in therapy in current practice guidelines. The purpose of this review is to summarize studies that have investigated the efficacy of dapagliflozin in pediatric patients. A systematic review was performed to identify clinical studies of oral dapagliflozin in children 0 to 17 years. Studies were identified through searches of Scopus, Web of Science, PubMed, Google Scholar, Embase, clinical trial registries, research registries, and key journals through August 2022...

Thyroid hormone (TH) regulates the body&apos;s metabolism and iodine, a vital trace mineral, is vital for TH synthesis. As a TH biosynthesis catalyst, iodine has a substantial role in our health. When there is a modest iodine deficit, the thyroid gland grows autonomously, resulting in thyrotoxicosis. Those who consume excessive iodine risk developing hypothyroidism and thyroid autoimmunity. A transient hyperthyroid condition may rapidly increase iodine consumption. Iodine deficiency is common across the globe, and provision of supplementary iodine, in forms such as iodized salt or vegetable oil, has many benefits...

Many etiological factors causing short stature have already been identified in humans. In the last few years, the advent of new techniques for the detection of chromosomal and molecular abnormalities has made it possible to better identify patients with genetic causes of growth failure. Some of these factors directly affect the development and growth of the skeleton, since they damage the epiphyseal growth plate, where linear growth occurs, influencing chondrogenesis. In particular, defects in genes involved in the organization and function of the growth plate are responsible for several well-known conditions with short stature...

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Purpose: to examine the characteristics of ambulatory blood pressure (ABP) including blood pressure variability (BPV) and its association with albuminuria in type 1 diabetic (T1D) children and to identify potential predictors of high - normal albuminuria and microalbuminuria. Methods: ABP monitoring was performed in 201 T1D children and adolescents (mean age 14.7 ± 3.8 years) with T1D duration over one year. The level of albuminuria was assessed as albumin/creatinine ratio (ACR) and patients further classified as low-normal, high-normal or microalbuminuria...

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