Journal of Pediatric Endocrinology & Metabolism : JPEM

OBJECTIVES: Gonadotropin-releasing hormone agonist (GnRHa) has been used for central precocious puberty (CPP) or early and fast puberty. It was aimed to assess changes in body mass index (BMI), polycystic ovary syndrome (PCOS) frequency, and anti-Müllerian hormone (AMH) in girls who had been treated with GnRHa. METHODS: 58 adolescent girls treated with GnRHa for CPP or early and fast puberty (3.75 mg/28 days), between 2011 and 2015, were re-evaluated in 2020-2022 at least 2 years after menstruation...

OBJECTIVES: Genotype-phenotype correlation in congenital adrenal hyperplasia (CAH) caused by 21-hydroxylase deficiency ranges from 45 to 97 %. We performed massively parallel sequencing of CYP21A2 on stored newborn bloodspot samples to catalogue the genotypes present in our patients with CAH and enable genotype-phenotype comparison. METHODS: Participants ≤15 years old with clinically diagnosed CAH were recruited from The Sydney Children's Hospitals Network...

OBJECTIVES: Type 1 diabetes (T1D) causes psychological distress, negatively impacting normal childhood activities. Depression, anxiety disorders, and eating problems are commonly observed in this population. METHODS: The study population consisted of 40 adolescents (22 females and 18 males) who had been diagnosed with T1D and 41 healthy adolescents (21 females and 20 males). The aim of this study was to compare adolescents with T1D to healthy controls in terms of depression, anxiety, and eating problems and subsequently examine the T1D group in relation to the risk of diabetes-specific eating disorders...

OBJECTIVES: In the present study, we aimed to evaluate the genotype-phenotype relation in patients with biotinidase enzyme deficiency based on repeated biotinidase enzyme measurements. METHODS: The hospital file information of patients with biotinidase, enzyme deficiency was assessed retrospectively, and the relationship between the BTD gene mutations analysis results and biotinidase enzyme activity following the first and repeated enzyme activity assessments was analyzed...

OBJECTIVES: We aimed to assess the efficacy of oral use of OLD in children with CDI. METHODS: Clinical, laboratory, and imaging characteristics of twenty-five children with CDI treated with OLD were evaluated. RESULTS: Fourteen boys and eleven girls with a mean age of 52.37 months were evaluated. These children (mean weight and height at admission, 26.81 ± 14.8 kg vs. 92.52 ± 30 cm) presented with failure to thrive, irritability, prolonged fever, polyuria and hypernatremia (mean sodium level, 143...

OBJECTIVES: The aim of the current study was to evaluate the safety and efficacy of initiation protocol for MiniMed ™ 780G system among an Egyptian cohort of young people living with type 1 diabetes (T1D). METHODS: A prospective single-arm study including 72 participants with T1D. Five days of structured education and training were provided to all users and continuous glucose monitoring (CGM) was initiated on the first day of the training. Users initiated the pump initially in manual mode, with suspend before low feature, for 3 days before shifting to Auto Mode...

OBJECTIVES: To investigate the prevalence of thyroid autoimmunity and related thyroid disorders among children and adolescents with type 1 diabetes in Jordan. METHODS: In a retrospective study, thyroid stimulating hormone and thyroid hormone (Free T4) levels were measured in 684 children with type 1 diabetes who presented to Jordan University Hospital between January 2012 and February 2021. Anti-thyroid peroxidase (TPOAb) and anti-thyroglobulin (TGAb) antibodies were measured in 526 and 438 subjects with type 1 diabetes, respectively...

OBJECTIVES: Children with classical congenital adrenal hyperplasia (CAH) require glucocorticoid (GC) substitution due to impaired cortisol synthesis. To avoid over- or undertreatment, one has to consider auxology as well as biochemical parameters for adrenal derived steroids like androstenedione (A4) and 17-hydroxyprogesterone (17-OHP). There are no established reference values for A4 and 17-OHP in CAH. METHODS: We performed a retrospective study in 53 prepubertal patients with CAH...

We aimed to explore the associations of neonatal hypocalcemia with neonatal vitamin D deficiency and maternal vitamin D deficiency. A comprehensive systematic literature search using PubMed and web of science was performed for relevant articles from inception to February 17th, 2023. We used odds ratio (OR) and 95 % confidence interval (CI) as effect sizes for our meta-analysis. Publication bias was evaluated using funnel plot, Begg's test, and Egger regression test. All the statistical analyses were performed using Stata 14...

OBJECTIVES: This cross-sectional study examined the relationship between problem-solving skills, glucose regulation, and disease management in children with type 1 diabetes mellitus (T1DM) as well as the role of depression in this association. METHODS: The participants (n=54) were recruited from a diabetes camp. Problem-solving inventory (PSI), Beck depression inventory (BDI), and diabetes self-management profile (DSMP) were administered as tests. Forty-six participants who have been diagnosed with T1DM for at least a year and completed the survey were included in the analyses...

OBJECTIVES: PAX4 (Paired box 4), a transcription factor crucial in pancreatic beta cell development and function, is a rare cause of maturity-onset diabetes of the young (MODY). What is new? A novel PAX4 variant is verified by family segregation study to be likely pathogenic. A child below 10 years of age diagnosed to have PAX4-MODY, differing from previously reported paediatric cases diagnosed in adolescence. CASE PRESENTATION: A child with diabetes diagnosed at age 8 years, harbored a PAX4 variant, c...

Glycogen storage disease (GSD) type 1a is an inherited autosomal recessive metabolic disease caused by a deficiency in glucose-6-phosphatase activity. The objectives of this research were to systematically review the published literature on the epidemiology of GSD 1a and to assess the performance of reported epidemiology measures in a simulation model. In this systematic literature review 2,539 record titles and abstracts were screened. Of these, only 11 studies contained relevant data on GSD 1a disease epidemiology...

OBJECTIVES: Over the past 3 years, coronavirus disease 2019 with its worldwide spread has profoundly marked public health, therefore anti-COVID-19 vaccinations have been developed to prevent the dissemination of the disease. To date, 71 cases of Graves' disease (GD) after vaccination against SARS-Cov-2 were described in the adult population. Our goal is to present the first case in the paediatric population. CASE PRESENTATION: We present the first case of a 16-year-old adolescent girl who developed GD 6-7 weeks after the second dose anti-COVID-19 mRNA vaccine...

Artificial Intelligence is integrating itself throughout the medical community. AI's ability to analyze complex patterns and interpret large amounts of data will have considerable impact on all areas of medicine, including pediatric endocrinology. In this paper, we review and update the current studies of AI in pediatric endocrinology. Specific topics that are addressed include: diabetes management, bone growth, metabolism, obesity, and puberty. Becoming knowledgeable and comfortable with AI will assist pediatric endocrinologists, the goal of the paper...

OBJECTIVES: Autosomal dominant hypocalcemia (ADH) is characterized by hypocalcemia and hyperphosphatemia secondary to hypoparathyroidism. It is classified as type 1, caused by gain-of-function mutations of the calcium-sensing receptor (CASR), and type 2, caused by activating mutations in GNA11 , which is a crucial mediator of CASR signaling. What is new? We report a rare pediatric case of ADH type 2. CASE PRESENTATION: The patient was a 15-year-old girl with short stature...

OBJECTIVES: Understanding the normal range of laboratory values as pertained to different age groups and males or females is paramount in health care delivery. We aimed to assess the distribution of morning fasting serum glucose levels by age and sex in the general population of children using a large-scale population-based cohort. METHODS: A retrospective study with real-world de-identified data from a large, state mandated health fund in Israel among children aged 2-18 years old between 2006 and 2019...

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OBJECTIVES: The aim of our study was the longitudinal assessment of bone health index (BHI) in short-statured children during growth hormone (GH) treatment to estimate changes in their bone health. METHODS: 256 short-statured children (isolated GH deficiency (IGHD) n=121, multiple pituitary hormone deficiency (MPHD) n=49, intrauterine growth retardation (small for gestational age (SGA)) n=52, SHOX (short stature homeobox gene) deficiency n=9, Ullrich Turner syndrome (UTS) n=25) who started with GH between 2010 and 2018 were included...

OBJECTIVES: Early diagnosis of childhood growth disorders, their timely and proper treatment are important for better outcomes.The aim of the present study was to assess the results of the first 18 months of the growth disorders related twinning programme "Partners4Growth" implemented at all tertiary university pediatric endocrinology clinics in Bulgaria. METHODS: In 2019, Partners4Growth started operation at 7 centres (4 experienced and 3 twin centres) with the main aim of aligning their practices in the shortest possible time...

OBJECTIVES: We aimed to analyse weight change and risk factors associated with excessive weight gain in preschool children during the COVID-19-related lockdown in western China. METHODS: A retrospective observational study of eight randomly selected kindergartens was conducted. Data was collected via online electronic questionnaires during the lockdown. RESULTS: During the COVID-19 lockdown period, the incidence of overweight and obesity among preschool children involved in the study was 7...