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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 

Vol. 8.3

March 2011

 

The Contribution of Elaine Ron PhD to Radiation Epidemiology

Ernesto Lubin, MD

Ref: Ped. Endocrinol. Rev. 2011;8(3):188-189

Key words: Low Dose Radiation Exposure Radiation Epidemiology Thyroid.

 

 

Congenital Syndromes of Severe Insulin Resistance

Isabel Huang-Doran1, BA, David B. Savage2, MD

Abstract

Rare syndromes of severe insulin resistance (IR), caused by genetic defects in canonical insulin signalling or adipose tissue development, place patients at high, early risk of adverse clinical complications but are clinically challenging to manage. Prompt evaluation and diagnosis of these individuals not only facilitates more appropriate intervention but, together with identification of the underlying genetic defects, may provide valuable mechanistic insights into the pathogenesis of rare as well as common, obesity-associated IR. Although diagnosis of these syndromes is complicated by the variability of their natural history, several presenting features are common to all severe IR syndromes including disturbed glucose metabolism (either hypoglycaemia or hyperglycaemia), acanthosis nigricans and severe ovarian dysfunction in lean individuals. These features may be evident at birth, or appear during childhood or adolescence, so their recognition by paediatricians is essential. Here we review the general and specific features of syndromes of severe IR, summarise their classification, and recommend strategies for their subsequent investigation. Ref: Ped. Endocrinol. Rev. 2011;8(3):190-199

Key words: Insulin resistance, lipodystrophy, diabetes, obesity, acanthosis nigricans, polycystic ovarian syndrome.

 

 

Glucose Meter Accuracy and the Impact on the Care of Diabetes in Childhood and Adolescence

Richard Hellman, MD, FACP, FACE

Abstract

Blood glucose testing by point-of-care (POC) meters has become increasingly prevalent, and is an essential tool in diabetes management. But most of those who use the meters or rely upon their results for clinical decision-making are unaware of the significant limitations of these meters at present in both inpatient and outpatient settings. This review discusses the limitations of both strips and meters, in both hospital and outpatient settings, and the special problems when caring for diabetes in children and adolescents. It presents data that support the general concern among the experts that POC glucose meters are often inappropriate in critical care, as well reviewing when these meters are appropriate for use in other settings. The review discusses the problem of “outliers”, glucose levels that deviate from the true glucose by a relatively large increment, and how these degrade clinical decision-making. Lastly, evidence-based recommendations are provided for changes that are needed to improve the present situation.

Ref: Ped Endocrinol. Rev. 2011;8(3):200-207

Key Words: Diabetes; Glucose meter accuracy; Patient safety; Glucose meter strips; POC glucose meters; Diabetes in children and adolescents; Total analytic error; Inpatient glycemic control.

 

 

Effects of Unintentional Exposure of Children to Compounded Transdermal Sex Hormone Therapy

Sherry L. Franklin, MD 

Abstract

Gynecomastia and rapid growth progressed in twin brothers and pubic hair in one, over a period of 2 years. A combination of contra- and isosexual development was induced by transdermal exposure to compounded estradiol, estrone, and testosterone creams applied to their mother’s body as part of a hormone replacement regimen.

Ref: Ped. Endocrinol Rev. 2011;8(3):208-212

Key Words: Gynecomastia, precocious puberty, transdermal exposure, compounding pharmacies.

 

 

Disorders of Sex Development – When and How to Tell the Patient

Juliana L. Austin1, MD, MCR, Anne Tamar-Mattis2, JD, Tom Mazur3, PsyD, Maria J. Henwood4, DO, Wilma C. Rossi5, MD

Abstract

Physicians and other providers are often confronted with difficult decisions in the area of disclosure. This article examines a hypothetical situation relevant to the practice of pediatric endocrinology. The parents of a child with a disorder of sex development (DSD) wish the physician to treat their child, but without revealing key medical information to the child. Herein, we will explore the legal and ethical responsibilities of a provider to disclose information to an under-age DSD patient and to provide insight on when and how to tell the patient.

Ref: Ped. Endocrinol Rev. Rev. 2011;8(3):213-217

Key words: Disorders of sex development; disclosure; androgen insensitivity syndrome; medical ethics

 

 

Impaired Osmoregulation in Anorexia Nervosa: Review of the Literature

Nuray Kanbur1, MD, Debra K. Katzman2, MD, FRCPC

Abstract

Background: Anorexia nervosa (AN) is a serious eating disorder associated with numerous medical complications, including alterations in water balance and impaired osmoregulation.

Objective: The aim of this paper is to review the evidence-based literature and discuss the potential pathophysiological mechanisms of impaired osmoregulation observed in patients with AN.

Main data: Although limited, the evidence suggests that the pathophysiological mechanisms causing impaired osmoregulation in AN is multifactorial and includes abnormalities in osmoregulation of vasopressin, intrinsic renal defects and the influence of antidepressants often used in the treatment of patients with AN. Physicians treating patients with AN should be aware of this complication and the possible multifactorial etiology contributing to this medical complication.

Ref: Ped. Endocrinol. Rev. 2011;8(3):218-221

Key words: anorexia nervosa, osmoregulation, vasopressin, polyuria

 

 

The 44th Annual Meeting of the Japanese Society for Pediatric Endocrinology (JSPE), Osaka, Japan, 7-9 October, 2010

Toshiaki Tanaka, MD

Ref: Ped Endocrinol. Rev. 2011;8(3):224-225

Key words: Antinatriuretic peptide gene, Turner Syndrome, idiopathic short stature, GH treatment, congenital hyperinsulinism

 

 

Meeting Report: 3rd International Workshop on Insulin & Cancer Heidelberg, Germany, October 30-31, 2010

Doris Mayer1, PhD, Ernst Chantelau2, MD

Ref: Ped. Endocrinol. Rev. 2011;8(suppl 3):226-227

Key Words: Insulin, insulin analogues, cancer, insulin and cancer, insulin glargine (Lantus®), insulin resistance, obesity, obesity and cancer

 

 

Report of the 36th ISPAD-Meeting Buenos Aires, Argentina, 27-30 October 2010

Mabel Ferraro, MD

Ref: Ped. Endocrinol. Rev. 2011;8(3):228-231

Key Words: ISPAD Annual Meeting, Type 1 diabetes, Type 2 diabetes, diabetes complications, pregnant adolescents with diabetes, gene therapy, insulin pump therapy, psychological aspects in childhood diabetes.

 

 

The XXI Annual Meeting of the Latin American Society for Pediatric Endocrinology (SLEP) Costa do Sauipe (Bahia), Brazil, October 27-30, 2010

Horacio M. Domené1, MS, Henry Marcano2, MD, Tatiane Sousa e Silva3, MD,

Héctor G. Jasper1 MD, Roberto Lanes2 MD, and Carlos A. Longui3, MD

Ref: Ped. Endocrinol. Rev. 2011;8(3):232-241

Key words: Aromatase deficiency; Genome-wide strategies in obesity and/or diabetes; Epigenetic abnormalities of the IGF system; Gene mutations, endocrine disruptors and primary hypothyroidism; Management of congenital hypothyroidism; Hypogonadism and disorders of sex development; Anti-Mullerian Hormone; Metabolic syndrome in children an adolescent; Current treatment of hypogonadism; Intrauterine and perinatal influences in development of gonadal function; Genetic anomalies of GH deficiency; Glucocorticoid sensitivity; IGFALS gene mutations; Glucocorticoid-remediable aldosteronism; Childhood adrenocortical tumors; Micro RNAs in adrenocortical tumors; Insulin sensitivity in obese children.