Publisher: YS Medical Media Ltd. PO Box 8214, Netanya 42504, Israel. Call Us: +972-9-8641111   /   per@medmedia.co.il   /   www.medmedia.co.il/per

© 2017 by MEDICALMEDIA for PER Pediatric Endocrinology Reviews. All rights reserved

  • w-facebook
  • Twitter Clean
  • w-googleplus

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. 10.2

December 2012

 

The Role of Electronic Assessment of Adherence in the Education and Counseling of Children Taking Growth Hormone: Progress and Challenges

Fritz Haverkamp1 Professor, MD, Dipl.-Psych, Svante Norgren2 Professor, MD, PhD Rob Horne3 Professor, BSc, MSc, PhD, FRPharmS, Christoph Gasteyger4 MD

Abstract

There are numerous issues surrounding adherence in children taking recombinant human growth hormone (rh-GH). New technologies capable of accurately recording/monitoring may highlight some of these issues, and have value in optimizing adherence levels through education and counseling. The intention of this review is to guide healthcare professionals (HCPs). PubMed, Google Scholar and citations in published papers were used to substantiate the views expressed by the authors. Both perceptional and practical factors influence the adherence levels of children taking rh-GH. Understanding such factors may help to identify the characteristics of ideal rh-GH devices and their potential impact on adherence. New technologies, such as electronic monitors, may facilitate patient-provider discussions on adherence, and help identify barriers that are amenable to change. Monitoring adherence may also help differentiate nonadherence from biological low response to rh-GH therapy. However, the medical, psychological, social and ethical aspects of electronic assessment require further investigation.

Ref: Ped. Endocrinol. Rev. 2013;10(2): 199-208

Keywords: Adherence, growth hormone, pediatric, electronic monitoring device, counseling

 

Cognitive and Psychosocial Development Concerns in Children Born Small for Gestational Age

Peter A. Lee,1 MD, PhD, Christopher P. W. Houk,2 MD, FAAP

Abstract

Outcome information for infants born small for gestational age (SGA), whether term or premature, suggests poorer cognitive function compared with appropriate size for gestational age (AGA) infants. Poorer outcome is associated with smaller size for gestational age and with lack of catch-up growth after birth. Such data have been reported from early childhood to young adulthood. Diminished head circumference at birth and growth thereafter has also been associated with poor outcome. Based on available reports, the impact of SGA birth upon psychosocial development remains unclear. While it has not been shown that growth hormone (GH) therapy impacts either cognitive or psychosocial outcome, increased head circumference standard deviation scores have been shown to occur with GH therapy. These data need to be interpreted with caution since study populations do not define etiology of SGA and definitions of SGA vary. Further, generalized group data are not applicable to individuals.

Ref: Ped. Endocrinol. Rev. 2013;10(2): 209-216

Keywords: small for gestational age, cognition, development, growth hormone

 

Diabetic Retinopathy in Children

Gregory P. Forlenza1, MD, Michael W. Stewart2, MD

Abstract

The risk of developing diabetic retinopathy (DR), the leading cause of vision loss among workingaged individuals, depends largely upon the duration of diabetes. Pediatric populations would appear to be at low risk for DR but it has been discovered in patients as young as 5.5 years and devastating cases of blindness have been reported in adolescents. Microvascular complications of diabetes, including DR, frequently develop during puberty, thereby making the detection of retinopathy important during these years and those of later adolescence. Retinopathy screening protocols have been written by several organizations but adherence by patients and physicians remains poor. Improved understanding of the risk factors for retinopathy, including many of the recently identified genetic abnormalities, may enable more effective and targeted screening of the diabetic population. Furthermore, advances in imaging technology promise to improve physicians’ ability to effectively screen patients for retinopathy within their offices.

Ref: Ped. Endocrinol. Rev. 2013;10(2): 217-226

Key Words: Diabetes, Diabetic Retinopathy, Pediatrics, Screening

 

Persistent Müllerian Duct Syndrome: 8 New Cases in Southern California and a Review of The Literature

Parisa Salehi1, MD, Chester J. Koh2, MD, Pisit Pitukcheewanont1, MD, Lein Trinh3, MD, Mark Daniels3, MD, Mitchell Geffner1, MD

Abstract

Persistent Müllerian Duct Syndrome (PMDS) is a 46,XY disorder of sex development (DSD) in which Müllerian structures are found in genotypic males with normally virilized external genitalia and unilateral or bilateral cryptorchidism. It is usually diagnosed incidentally during surgical repair of cryptorchidism or inguinal hernia. The majority of cases are due to a mutation of the anti-Müllerian hormone (AMH) gene or the AMH receptor, type II (AMH-RII) gene. Management of patients with PMDS requires a multidisciplinary approach. Long-term prognosis is good although fertility appears to be decreased and there may be a risk of malignancy due to cryptorchidism and retained Müllerian remnants. We describe 8 new cases of PMDS diagnosed in Southern California in the past 10 years and review the literature.

Ref: Ped. Endocrinol. Rev. 2013;10(2): 227-233

Key words: Persistent Müllerian Duct Syndrome, disorder of sex development, anti-Müllerian hormone

 

Maturity Onset Diabetes of the Young: Clinical Characteristics, Diagnosis and Management

Fotini K Kavvoura1,2, MD, PhD, Katharine R Owen1,2, MBChB, MD

Abstract

Maturity Onset Diabetes of the Young (MODY), represents a rare cause of diabetes (1% of all cases), commonly misdiagnosed as Type 1 Diabetes (T1D) or Type 2 Diabetes (T2D). Clinical characteristics of MODY include age of onset before 45 years, absence of β-cell autoimmunity and features of metabolic syndrome, sustained endogenous insulin production and strong family history. Common reasons for misdiagnosis are limitations in physicians’ awareness and restrictions in performing genetic testing. In an attempt to improve diagnosis rates, recent research efforts have focused on the discovery of non-genetic biomarkers for prioritising individuals for genetic testing, with some promising progress (identification of high-sensitivity CRP, plasma glycan profile as HNF1A-MODY). The information provided is relevant to physicians dealing with young adults but details on pediatric populations are also included. Raising awareness about MODY and making the diagnosis more accessible will improve prognostication and management of these patients and their relatives.

Ref: Ped. Endocrinol. Rev. 2013;10(2): 234-242

Keywords: MODY, genetics, personalised treatment, biomarkers

 

Meeting Report

The 2012 FASEB Science Research Conference

"The Growth Hormone/Prolactin Family in Biology and Disease" A Novel Biannual Rendez-Vous in the Endocrinology Landscape

Vincent Goffin1, PhD, Christin Carter-Su2, PhD

Abstract

The inaugural edition of the FASEB Science Research Conference entitled "The GH/PRL Family in Biology and Disease" was held this past summer at Snowmass, Colorado. This report provides an overview of the scientific content and a taste of the atmosphere of this novel meeting in the field of Endocrinology. Ref: Ped. Endocrinol. Rev. 2013;10(2): 243-245 Keywords: Prolactin, Growth Hormone, Mammary Gland, Signaling, Cancer, Omics, Imaging, Targets, Genetics, Drug Development, Basic/Translational. 2012 Annual Meeting of the Endocrine Society Houston, Texas (June 23-26, 2012) Selected Highlights Clement Cheung1, MD, PhD, Anna Ryabets-Lienhard2, DO, Juliana Austin3, MD Mimi S. Kim4, MD

Ref: Ped. Endocrinol. Rev. 2013;10(2): 246-259

Key Words: let-7 family microRNA, Lin28, kisspeptin, kiss1 receptor (GPR54), dynorphin, prokineticin receptor 2 (PROKR2), neurokinin (NKB), neurokinin receptor (NK3R), leptin, melanocortin receptor 4 (MC4R), peripheral precocious puberty, deiodinases, brown fat, selective thyroid hormone receptor modulators (STRM), oral contraceptives, progestins, venous thromboembolism, polycystic ovarian syndrome (PCOS), hypothalamic amenorrhea, anorexia nervosa, exerciseinduced amenorrhea