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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 15.2

Dec 2017

 

For Debate:

Constitutional and Non-Constitutional Delay of Growth and Puberty

Otfrid Butenandt, MD

Abstract

Herewith a definition of constitutional delay of growth and puberty shall be given. Whereas constitutional delay of growth and puberty is a hereditary variant of normal growth and development occurring in both sexes and is irrelevant to the familial height, non-constitutional delay is secondary to a variety of underlying disorders like chronic diseases, malnutrition, persistence of psychologic problems or hormonal anomalies. Constitutional delay occurs in boys and girls and will end in normal final height within the familial height range.

 

Ref: Ped. Endocrinol. Rev. 2017;15(2):132-135

doi: 10.17458/per.vol15.2017.but.fd.constitutionalnonconstitutional

 

 

 

 

Treatment of Girls and Boys with McCune-Albright Syndrome with Precocious Puberty – Update 2017

Anna Neyman, MD, Erica A Eugster, MD

Abstract

The most common endocrinopathy associated with McCune-Albright Syndrome (MAS) is peripheral precocious puberty (PP) which occurs far more often in girls than in boys. We will discuss the latest advancements in the treatment of precocious puberty in MAS that have been achieved during the past 10 years. However, due to the rarity of the condition and the heterogeneity of the disease, research in this field is limited particularly in regards to treatment in boys. In girls, a period of watchful waiting is recommended prior to initiating therapy due to extreme variability in the clinical course. This article will review in detail current pharmacologic treatment in girls, which typically consists of either inhibiting estrogen production or blocking estrogen action at the level of the end-organ. The two treatments with the most evidence at this time are Tamoxifen (which is an estrogen receptor modulator) and Letrozole (which is a 3rd generation aromatase inhibitor). This article will also review the current treatment strategies in boys which typically include using an androgen receptor blocker and an aromatase inhibitor. Due to the rarity of the condition, large multicenter collaborative studies are needed to further investigate efficacy and safety with the goal of establishing the gold standard for treatment of PP in children with MAS.

 

Ref: Ped. Endocrinol. Rev. 2017;15(2):136-141

doi: 10.17458/per.vol15.2017.nau.treatmentgirlsboys

 

 

 

Metformin in Adolescent PCOS: The Way Forward

Inderpal Pal Singh Kochar, MD, Smita Ramachandran, MD, Aashish Sethi, MD

Abstract

Polycystic ovarian syndrome (PCOS) is one of the most common endocrine disorders in adolescent girls and often over or under-diagnosed due to common features with normal puberty.

Metformin an insulin sensitizer has been widely used in adult PCOS with benefits but the studies in adolescents are few. This use in adults has been translated to use in adolescents and we have done a review of these studies of metformin in adolescent PCOS and reported its use in weight reduction and hyperandrogenism.

 

Ref: Ped. Endocrinol. Rev. 2017;15(2):142-146

doi: 10.17458/per.vol15.2017.prs.metforminadolescentpcos

 

 

 

PreImplantation Factor and Endocrinology of Implantation and Establishment of Early Pregnancy: A Contemporary View

Roberto X. Calix, MD, Sara Ornaghi, MD, Jean H. Wilson, Nelson Fernandez, PhD, Francois Vialard, MD, Eytan R. Barnea, MD, Michael J. Paidas, MD

Abstract

The earliest stages of pregnancy are marked by countless changes in the maternal environment. A specific coordination of activity is required for a successful pregnancy, starting early in the menstrual cycle. Early establishment of maternal-fetal crosstalk is critical for the progression of pregnancy. Many factors, both maternal and fetal derived, play specific and important roles immediately following fertilization, through implantation and beyond. Here we present a review of some of the key factors involved with a focus on PreImplantation Factor (PIF), a small peptide secreted only by competent embryos, which carries an important role required for pregnancy progression.

 

Ref: Ped. Endocrinol. Rev. 2017;15(2):147-158

doi: 10.17458/per.vol15.2017.cow.preImplantationfactorendocrinology

 

 

 

Consanguineous Marriages and Endocrine Diseases in Arab Societies

Dr Noman Ahmad, MBBS, FRCPCH, MSc, Jean-Pierre Chanoine, MD, FRCPC (Academic), PhD

Abstract

The Arab societies have the highest prevalence of consanguineous marriages; this results in an increased incidence of autosomal recessive conditions. There are different trends of family marriages across the globe and also the teachings of major religions differ from each other. The culture of family marriages is no more limited in any specific part of world due to rapid and mass migration of people secondary to wars or economic reasons. The endocrine conditions are relatively less discussed in the medical literature as well as in genetic counselling programs. The aim of this review is to highlight endocrine conditions associated with consanguineous marriages; it also discusses the cultural and religious trends of family marriages; the barriers and scarcity of good counselling programs.

 

Ref: Ped. Endocrinol. Rev. 2017;15(2):159-164

doi: 10.17458/per.vol15.2017.ach.consanguineousmarriagesendocrine

 

 

 

Periodontal Disease and Dental Caries among children and Adolescents Suffering from Endocrine Disorders – A Literature Review

Michael Saminsky, DMD, MA

Abstract

Background: Dental caries and periodontal disease are the most common oral diseases. Their link to disorders of endocrine system is of high interest. Most of the available data relates to the adult population, though its importance among children and adolescents is paramount.

Objective: To review the existing evidence examining the link between these clinical conditions among children and adolescents.

Data sources: Electronic bibliographic databases and hand searches of relevant publications, based on prepared list of relevant key-words was performed.

Results: Paucity of existing data leaves the question of association between most endocrine disorders of the youth with dental caries and periodontal disease, inconclusive, apart from obesity and diabetes mellitus, where it seems to be elucidated.

Conclusion: A profound research should be done in order to amend our understanding to what extent, if at all, exists the link between these oral maladies and different pediatric endocrine disorders.

 

Ref: Ped. Endocrinol. Rev. 2017;15(2):165-172

doi: 10.17458/per.vol15.2017.sam.periodontaldiseasedental

 

 

 

Meeting Report:

The 2017-USFQ Biennial Meeting on Growth Hormone & IGF1 Research

Jaime Guevara-Aguirre, MD, Enrique Terán, MD, PhD, Ron Rosenfeld, MD

 

Ref: Ped. Endocrinol. Rev. 2017;15(2):173-184

doi: 10.17458/per.vol15.2017.gtr.mr.2017usfqbiennialmeeting