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Pediatric Endocrinology Reviews (PER) is the most respected international peer reviewed journal in Pediatric Diabetes, Nutrition Metabolism and Genetics. Hypothyriodism, Hyperthyriodism, Glycemic Management for Children with Diabetes Glucose Monitoring Adrenal Insufficiency Turner Syndrome Late Adolescence Klinefelter Syndrome Children with Short Stature and Growth Failure: Heightism Type 1 Diabetes in Children Growth Hormone Treatment for GHD Insulin-like Growth Factor-I Growth Hormone Deficiency SGA Children with Short Stature Receiving GH Treatment Hypothalamic Obesity Adolescent Gynecomastia Hematospermia in Adolescents Gain-of-Function CDKN1C Mutations Craniopharyngioma Succinate-Dehydrogenase Deficient Paragangliomas/Pheochromocytomas Adrenal Steroidogenesis: Impact on Gonadal Function Focal Congenital Hyperinsulinism (CHI)  Longevity Hormone Klotho Pediatric Congenital Hypothyroid Lysosomal Storage Diseases Juvenile NCL (CLN3 Disease) GM1 and GM2 Gangliosidoses Types A and B Niemann-Pick Disease CLN2 Disease (Classic Late Infantile Neuronal Ceroid Lipofuscinosis) Krabbe Disease Fucosidosis Nuclear Factor Kappa B (NF-κB) in Growth Plate Chondrogenesis Persistent Müllerian Duct Syndrome LHX4 Gene Alterations Stunted Growth 45,X/46,XY Gonadal Dysgenesis Thyroid Hemiagenesis Nutrimetabolomics and Adipocitokines Chromosomal Microarray Analysis (CMA) Chromosomal microarray, Copy Number Variant (CNV), Prenatal, Amniocentesis, Comparative genomic hybridization, SNP array, Diagnosis, Clinical Abreviations: aCGH – array-based comparative genomic hybridization, ASD – autism spectrum disorder, BAC – bacterial artificial chromosome, CHD – congenital heart disease, CMA – chromosomal microarray analysis, CNV – copy number variant, CVS – chorionic villus sampling, DD – developmental delay, DNA – deoxyribonucleic acid, FISH – fluorescent in situ hybridization, GABA - gammaaminobutyric acid, ID – intellectual disability, LOH – loss of heterozygosity, NGS – next generation sequencing, NIPT – noninvasive prenatal testing, NOS – not otherwise specified, PGD - preimplantation genetic diagnosis, SNP – single nucleotide polymorphism, VUS – variant of unclear clinical significance Central precocious puberty, Traumatic brain injury, Pathophysiology Nephrolithiasis, Nephrocalcinosis, Hypercalciuria, Hyperoxaluria, Hypouricemia, Cystinuria, Genetics 

Volume 16.2

Dec 2018

In Memoriam:

Robert M. Blizzard, MD (1924-2018)

Alan David Rogol, MD, PhD

 

For Debate:

Paediatric T1DM: DKA is Still a Problem

Elena Martínez, MD, Nancy Portillo, MD, Eneritz Lizarralde, MD, Gema Grau, MD, Amaia Vela, MD, PhD, Amaia Rodríguez, MD, Itxaso Rica, MD, PhD

 

 

Abstract

Although the treatment of pediatric patients with T1DM has improved ketoacidosis (DKA) remains a frequent problem.

Objective: To estimate temporal changes in the prevalence of DKA at diagnosis of T1DM and to explore the factors associated with its occurrence.

Methods: Paediatric patients diagnosed at Cruces University Hospital (Spain) since 1997 were included. Clinical/analytical variables at diabetes onset, Hemoglobin A1c level during the first 2 years of evolution and the presence of the honeymoon phase were studied.

Results: In 209 patients the prevalence of DKA was stable over time and high (35.4%) especially in the youngest. 8.5% of patients had a severe DKA with a higher risk in older than 10. Partial remission occurred in 26% patients, less frequent in the youngest and in the subgroup with DKA at diagnosis.

Conclusion: The frequency of DKA although stable, remains high and is associated with a worse evolution of the disease.

Ref: Ped. Endocrinol. Rev. 2018;16(2):233-239

doi: 10.17458/per.vol16.2018.mpr.fd.t1dmdka

Key words: Type 1 Diabetes mellitus, Childhood, Diabetic Ketoacidosis, Honeymoon phase

 

 

National Cooperative Growth Study: 25 Years of Growth Hormone Data, Insights, and Lessons for Future Registries

 

Jennifer J. Bell, MD, Barbara Lippe, MD, Alicia A. Romano, MD, Joseph T. Cernich, MD, Rita D. Swinford, MD, Dalia Moawad, MBBCh

 

Abstract

Background: The National Cooperative Growth Study (NCGS) data are reviewed from 1985–2010 to report on final demographic, efficacy, and safety findings, and to illustrate the value of long-term, real-world follow-up to physicians and patients.

Methods: The NCGS was a multicenter, open-label, observational, postmarketing surveillance study of Genentech growth hormone (GH) products for the treatment of children with growth failure in North America.

Findings: Data from 65,205 patients representing 240,951 patient-years of experience were collected. All etiological groups had clinically meaningful improvements in near-adult height SDS. Females and African Americans were under-represented in the NCGS with little change in accrual over time. The favorable safety profile of GH was validated through the registry.

Conclusions: Twenty-five years of monitoring GH use through the NCGS yielded extensive insight into the utility of GH in various underlying etiologies. Demographic disparities were clear and became evident by analyzing data collected through the registry.

 

Ref: Ped. Endocrinol. Rev. 2018;16(2):240-255

doi: 10.17458/per.vol16.2018.25yearsghdata

Key words: Growth hormone deficiency, Growth failure, Growth hormone, Registry, Real-world experience, Methodology

 

Hypothyroidism in Young Children Following Exposure to Iodinated Contrast Media: An Observational Study and a Review of the Literature

Vered Rosenberg, BSc.Pharm, Alexander Michel, MD, MSc, Gabriel Chodick, PhD, Yingkai Cheng, MD, PhD, Petra Palkowitsch, MD, Gideon Koren, MD, Varda Shalev, MD, MPH

 

 

Abstract

While it is well documented that exposure to iodinated contrast media (ICM) can interfere with thyroid function in adults, much less is known about the incidence and risk factors associated with ICM induced hypothyroidism in young children. Using a computerized database we identified 843 children who were exposed to ICM between 1998 and 2015. The incidence rate of ICM induced hypothyroidism per 1000 person-years was 9.66 (95% CI: 4.17-19.04). When compared to the rest of the cohort, children with hypothyroidism were more likely to be younger, weigh less and to have undergone cardio-angiography. These results are supported by findings described in the literature review.

The risk of ICM- induced hypothyroidism needs to be considered especially in young children with low weight, undergoing cardio-angiography examinations. Systematic monitoring of thyroid function should be conducted in this focused patient population to avoid potential adverse consequences on child development.

Abbreviations

CHD, Congenital Heart Disease; CPT, Current Procedural Terminology; CT, Computed Tomography; ICM, Iodinated contrast media; MHS, Maccabi Healthcare Services; TSH, thyroid-stimulating hormone; T4, thyroxine; T3, triidothyronine

 

Ref: Ped. Endocrinol. Rev. 2018;16(2):256-265

doi: 10.17458/per.vol16.2018.hypothyroidism

Key words: Iodinated contrast media, Iodine-induced hypothyroidism, Contrast Media, Observational Study, Thyroid function

 

 

Narcolepsy, Precocious Puberty and Obesity in the Pediatric Population: a Literature Review

Ana Clara Maia Palhano, Lenise Jihe Kim, PhD, Gustavo A Moreira, MD, PhD, Fernando Morgadinho Santos Coelho, MD, PhD, Sergio Tufik, MD, PhD, Monica Levy Andersen, PhD

 

Abstract

Narcolepsy is a sleep disorder characterized by excessive daytime sleepiness, cataplexy, sleep paralysis and hypnagogic and hypnopompic hallucinations. The onset of the symptoms usually occurs in childhood, and previous studies have reported an association between narcolepsy and other endocrine diseases in the pediatric population, such as obesity and precocious puberty. The incidence of overweight or obesity ranges from 25% to 74% in patients with narcolepsy type I, while precocious puberty is present in 17% of children with narcolepsy with cataplexy. However, the mechanisms involved in the association of narcolepsy with obesity and precocious puberty have not been fully elucidated yet. In this review, we aimed to discuss narcolepsy in pediatric populations, highlighting the diagnostic difficulties and the complexity of the possible mechanisms that can relate narcolepsy to precocious puberty and obesity. We also emphasized the fact that endocrine diseases must be taken into consideration in children diagnosed with narcolepsy.

 

Ref: Ped. Endocrinol. Rev. 2018;16(2):266-274

doi: 10.17458/per.vol16.2018.Narcolepsypubertyobesity

Key words: Narcolepsy, Precocious Puberty, Obesity, Metabolism

 

 

Ellis-Van Creveld Syndrome and Dandy-Walker Malformation: An Uncommon Association

 

Khadija Boujtat, MD, Siham Rouf, MD, Imane Boutahar, MD, Imane Skiker, MD, Mariam Tajir, MD, Hanane Latrech, MD

 

 

Abstract

Ellis-Van Creveld (EvC) syndrome is a rare autosomal recessive chondroectodermal dysplasia including chondrodysplasia, postaxial polydactyly, ectodermal dysplasia, and congenital heart disease in 60% of patients. Additional findings may be observed affecting the pulmonary, renal, gastrointestinal, hematologic, and central nervous systems.

We report a case of an 11-year-old Moroccan boy with EVC syndrome and Dandy-Walker malformation. To our knowledge, this association has been previously reported in 3 patients in the literature.

 

Ref: Ped. Endocrinol. Rev. 2018;16(2):275-283

doi: 10.17458/per.vol16.2018.ellisvananddandywaler

 

Key words: Ellis-Van Creveld syndrome, Chondroectodermal dysplasia, Dandy-Walker malformation

Abbreviations: EVC=Ellis-Van Creveld GH=Growth Hormone; MRI=Magnetic Resonance Imaging

 

 

Meeting Report:

 

2018 Annual Meeting of the PediatricEndocrine Society

Toronto, Canada (May 5-8, 2018)

Selected Highlights

 

Anna Ryabets-Lienhard, DO, Sara Akhtar, MD, Roshanak Monzavi, MD, Juliana Austin, MD

 

 

Ref: Ped. Endocrinol. Rev. 2018;16(2):284-293

doi: 10.17458/per.vol16.2018.lama.mr.pestoronto

Key words: Hypophosphatemic rickets, Burosumab, Prader-Willi syndrome, Adult growth hormone deficiency syndrome, Macimorelin, Klinefelter syndrome, Hypothyroidism, Triclosan, Perchlorate