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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. 8.4

June 2011

 

Berson and Yalow-Reminiscences

Shimon M. Glick, MD

Ref: Ped. Endocrinol. Rev. 2011;8(4):350-353

Key words: Berson, Yalow, radioimmunoasaay, Nobel Prize, Bronx VA Hospital

 

 

The Impact of microRNAs on Endocrinology

Harel Zalts1, Noam Shomron2, PhD

Abstract

The endocrine system controls various cellular functions, constitutes a communication network between cells and distant tissues, and is vital for maintaining homeostasis. The couriers of this system are the hormones, which are produced by endocrine cells, secreted into the bloodstream and interact with receptors to exert their effect. The regulatory effect is manifested by either activating signaling cascades or by altering transcription patterns. Though thoroughly examined, many aspects of the endocrine system’s function are still unclear. MicroRNAs (miRNAs) are short (~22nt), non-coding RNAs that comprise a new subset of cellular regulatory molecules. MiRNAs regulate gene expression post-transcriptionally, by base pairing with the messenger RNA’s (mRNA) 3’ untranslated region (3’UTR). In recent years, miRNAs have emerged as key players in all cellular processes, and their aberrant expression has been linked with different types of disease and malignancies. This review focuses on the role of miRNAs in the function of the endocrine system, emphasizing the intricate reciprocal relationship between these two important regulatory systems.

Ref: Ped. Endocrinol. Rev. 2011;8(4):354-362

Key words: endocrine system, hormone, microRNA, noncoding RNA

 

 

Growth Hormone Therapy: Emerging Dilemmas

Zvi Laron, MD, PhD, (h.c.)

Abstract

The history of pituitary growth hormone (GH) started 100 years ago but the isolation purification and determination of the chemical structure of the human GH (hGH) took another 50 years. Starting in 1957 hGH was extracted from cadaver pituitaries and its clinical use was restricted to severe GH deficient patient. With the invention of recombinant biosynthetic hGH in 1985;the indications for its use were extended. The major approved medications are GH deficiency and short statured children of various etiologies. This is a critical review of present and future use of human GH. To evaluate the effectiveness of the hGH treatment several pharmaceutical companies established postmarketing follow-up programs which are based on the reliability and cooperation of the treating physicians. Unfortunately they stop when the treatment is terminated and most studies refer to growth stimulation effectiveness during initial years but do not follow the children until final height. The long-term experience enabled to evaluate adverse effects (AE), the majority being due to large dosage. The most serious AE reported are increases in malignancies and early or late mortality in adult age. There is consensus that GH deficient children need replacement therapy. As long-term hGH treatment is expensive and the final height gains in non-GH deficient children small the cost-benefit indications to treat short children without a disease has been questioned. To avoid the need of daily injections, long-acting hGH preparations undergo clinical trials. The future will show their effectiveness and eventual adverse effects.

Ref: Ped. Endocrinol. Rev. 2011;8(4):364-373

Key words: Growth hormone, GH deficiency, GH treatment, short stature treatment, adverse effects of GH, long-acting GH.

 

 

Molecular Mechanisms Underlying Insulin-Like Growth Factor Action How Mutations in the GH: IGF Axis Lead to Short Stature

Briony E Forbes, PhD

Abstract

Insulin-like growth factors (IGFs) act via the Type 1 IGF receptor (IGF-1R) to promote growth and development. Recent structural and site-directed mutagenesis studies have provided detailed insight into the mechanism of interaction between the IGFs and the IGF-1R. Studies of the insulin: insulin receptor interaction have provided important additional understanding of the mechanisms underlying the IGF:IGF-1R interaction. The recent crystal structure of the insulin receptor ectodomain showed a folded over conformation accommodating two potential ligand binding pockets. The ligand interacts with the receptor at two different sites within a binding pocket to achieve high affinity binding and activation of the receptor. In this review the effect of mutations in the human IGF1 and IGF-1R genes so far reported are explained in terms of the effect on ligand binding and receptor activation. The severity of patient phenotype can generally be correlated to the effect of the mutation on protein structure and function.

Ref: Ped. Endocrinol. Rev. 2011;8(4):374-381

Key words: Growth hormone, insulin-like growth factor, IGF-1R, IGF-I mutations, IGF-1R mutations

 

 

IGFBP-2 at the Interface of Growth and Metabolism – Implications for Childhood Obesity

Matthew A Sabin1, MB, BS, PhD, Vincenzo C Russo1, PhD, Walid J Azar1, BSc, Steven W Yau BSc, Wieland Kiess2, MD, George A Werther1, MD

Abstract

Defects in the growth hormone (GH)-insulin-like growth factor (IGF)-I axis may cause GH resistance characterized by IGF-I deficiency and growth failure. The range of defects causing GH resistance is broad as are their biochemical and phenotypical characteristics. We propose that GH-IGF-I axis defects form a continuum of clinical and biochemical effects ranging from GH deficiency to GH resistance. The pathophysiology of GH resistance is described followed by a scheme for investigation of the child with severe short stature and normal GH secretion. We critically discuss GH therapy for such patients and define acceptable growth responsiveness. Finally we discuss therapy Childhood obesity is associated with an increased risk of long-term morbidity and mortality, but the factors that determine which obese children will develop these longterm complications are not fully understood. IGFBP-2 may be integrally involved in the molecular processes that govern the development of obesity and subsequent weightrelated disease. Within this manuscript, we explore the associations between IGFBP-2 and obesity with a particular emphasis on how an increased understanding of the role of IGFBP-2 in metabolism may lead to improvements in the prevention and treatment of childhood obesity.

Ref: Ped. Endocrinol. Rev. 2011;8(4):382-393

Key words: IGFBP-2, children, obesity, adipogenesis, insulin resistance, Type 2 diabetes, metabolic syndrome, metabolism

 

 

The Pygmy Short Stature Enigma

Cristina Meazza, PhD, Sara Pagani, PhD, Mauro Bozzola, MD

Abstract

The Pygmy populations of Central Africa are known as the shortest human populations worldwide showing an endocrine profile similar to Caucasian individuals with idiopathic short stature. Therefore, the study of these subjects may significantly improve our knowledge of the mechanisms regulating normal growth in humans. In this review we summarize the existing knowledge on Pygmies’ short stature, including evolutionary hypothesis, studies on their GH/IGF-I axis and their immune system functioning. We illustrate in depth our recent studies on the ethnic group of Pygmies called Babinga, living in the forest of Cameroon, suggesting that the size of Pygmy subjects is reduced from birth, compared to a neighbouring population, and that it is associated with reduced GH and GH receptor gene expression. These results provide a research target for future epigenetic investigations and suggest that the short stature of African Pygmies is probably determined by complex genetic systems.

Ref: Ped. Endocrinol. Rev. 2011;8(4):394-399

Keywords: African Pygmies, short stature, growth hormone, growth hormone receptor

 

 

8th Annual World Congress in Insulin Resistance, Diabetes & Cardiovascular Disease November 4-6, 2010

Sonia Caprio, MD

Ref: Ped. Endocrinol. Rev. 2011;8(4): 400-402

Key words: Epigenetic, cardiovascular, complications and genetics of fatty liver in childhood obesity.