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. 9.3

March 2012

 

Paediatric Endocrine Aspects of Ghrelin

Chung Thong Lim, MD, Márta Korbonits, MD, PhD

Abstract

Ghrelin is a 28 amino-acid brain-gut peptide that is well-known for its orexigenic and metabolic effects leading to an overall positive energy balance. It stimulates appetite and growth hormone release via the GHS-R1a receptors. GOAT has been identified as the enzyme that acylates ghrelin, which is important for its endocrine function. The ghrelin/GHS-R/GOAT system has been studied extensively in view of its association with several endocrine diseases and the potential of developing an effective treatment. These include obesity, Prader-

Willi syndrome, anorexia nervosa and diabetes mellitus. Ghrelin system has also been associated with growth and stature. All these conditions can affect children and have a significant impact on the quality of health and life prognosis. In this review, we look into the association of ghrelin with appetite, growth and metabolic disorders in children.

Ref: Ped. Endocrinol. Rev. 2012;9(3): 628-638

Key words: ghrelin, GOAT, GHS-R, appetite, obesity, Prader-Willi Syndrome, anorexia nervosa, diabetes mellitus, stature

 

Umbilical Cord Blood-Derived Very Small Embryonic Like Stem Cells (Vsels) As A Source of Pluripotent Stem Cells for Regenerative Medicine Mariusz Z. Ratajczak1, MD, PhD, Malwina Suszynska2, MS, Daniel Pedziwiatr2, MS, Kasia Mierzejewska2, MS, and Nicholas J. Greco3, PhD

Abstract

Umbilical cord blood-derived very small embryonic-like stem cells (UCB-VSELs) are the most primitive stem cells circulating in fetal peripheral blood. These very rare cells slightly smaller than red blood cells i) become mobilized during delivery, ii) are enriched in fraction of CD133+ Lin-CD45- cells iii) express markers of pluripotent stem cells (e.g., Oct4, Nanog, and SSEA-4) and iv) display a distinct morphology characterized by a high nuclear/ cytoplasmic ratio and undifferentiated chromatin. We envision that VSELs are released into neonatal peripheral blood as a migrating population of stem cells involved in regeneration of tissues that become damaged in the process of delivery. They may also be responsible for the occurrence of fetal-maternal chimerism. Our most recent data suggest that UCB-VSELs exhibit some characteristics of long-term repopulating hematopoietic stem cells (LT-HSCs). We propose that UCB-VSELs may eventually be employed as a source of pluripotent stem cells in regenerative medicine.

Ref: Ped. Endocrinol. Rev. 2012;9(3): 639-643

Key Words: Umbilical Cord Blood, VSELs, stem cells

 

Clinical Implications of Thyroid Hormones Effects on Nervous System Development

Alfonso Carreón-Rodríguez1, 2, MD, PhD, Leonor Pérez-Martínez1, PhD

Abstract

Thyroid hormones have an important role throughout prenatal and postnatal nervous system development. They are involved in several processes such as neurogenesis, gliogenesis, myelination, synaptogenesis, etc., as shown in many cases of deficiency like congenital hypothyroidism or hypothyroxinemia. Those pathologies if untreated could lead to severe damages in cognitive, motor, neudoendocrine functions among other effects. Some could be reversed after adequate supplementation of thyroid hormones at birth, however there are other cellular processes highly sensitive to low levels of thyroid hormones and lasting a limited period of time during which if thyroid hormone action is lacking or deficient, the functional and structural damages would produce permanent defects.

Ref: Ped. Endocrinol. Rev. 2012;9(3): 644-649

Key words: thyroid hormones, nervous system, development, neurogenesis

 

Dilemmas in Choosing and Using Growth Charts

Michael Hermanussen1, MD, Kaspar Staub2, PhD, Christian Aβmann3, PhD, Stef van Buuren4, 5, PhD

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 and economic circumstances varies considerably both in amplitude (being short or tall) and tempo (maturing fast or slow). This has led to vivid discussions about which growth chart is the right chart to use. In contrast to wide-spread opinions emphasizing the similarity in early childhood growth among diverse ethnic groups, it has become apparent that a single “global” reference fails to adequately mirror the diversity in human growth. In view of the raising evidence that growth is also influenced by the peer group, we refer to novel, cost-effective procedures that facilitate producing growth references “on demand”, for limited regional purposes, for ethnically, socio-economically or politically defined minorities, but also for matching geographically different groups of children and adolescents for international growth and registry studies.

Ref: Ped. Endocrinol. Rev. 2012;9(3): 650-656

Key words: growth charts, references, standards, LMS method

 

D-dimer Levels in Type 1 and Type 2 Diabetic Children and Adolescents; Relation to Microvascular Complications and Dyslipidemia"Own Data and Review"

Mohamed A. El.Asrar1, PhD, Amira A. M. Adly2, PhD, Eman S.El.Hadidy3, PhD, Mahmoud A. Abdelwahab4, PhD

Abstract

Background: Changes in the coagulation cascade have been implicated in the pathogenesis of the vascular diabetic complications. Objective: to assess D-dimer level (as a marker of coagulation cascade/ fibrinolysis activation) in type 1 and type 2 diabetics and its correlation with microvascular complications and serum total cholesterol (TC) level. Methods: Ninety patients were included divided into two groups. Group1; comprised 50 type 1 diabetics with a mean age of 13.56 years. Their disease duration ranged between 0.4-16 years. Group 2;comprised 40 type 2 diabetics with a mean age of 13.5 years. Their disease duration ranged between 0.4-8 years. Patients were compared to 60 healthy age and sex matched subjects served as controls. Laboratory investigations included; fasting blood glucose, glycosylated hemoglobin, quantitative urinary albumin creatinine ratio (ACR), serum TC and measurement of plasma D-dimer levels. Results: Type 2 diabetics had significantly higher weight and body mass index (BMI) Standard deviation score (SDS) (p<0.0001) compared to type 1 diabetics. Type 2 diabetics had higher TC (p<0.04) and D-dimer levels (p<0.05) compared to type1 diabetics. D-dimer level was highly significantly elevated among type 1 diabetics with retinopathy, neuropathy and nephropathy compared to noncomplicated patients (p<0.01). D-dimer was significantly correlated with ACR (p<0.001) in both studied groups. In type 2 diabetics, TC level was positively correlated with BMI SDS (p<0.05), D-dimer level was significantly correlated with disease duration (p<0.05), blood pressure (p<0.01), and TC (p<0.05). In type 1 diabetics, D-dimer levels were positively correlated with blood pressure (p<0.01). In both types, D-dimer is positively correlated with ACR (p<0.001).

Conclusion: There was a tendency to hypercoagulability in both types of diabetes. This phenomenon may play a role in the development of diabetic microvascular complications.

Ref: Ped. Endocrinol. Rev. 2012;9(3): 657-668

Key Words: diabetes mellitus, microvascular complications, D-dimer, cholesterol

 

Ketoacidosis at Onset of Type 1 Diabetes Mellitus in Pediatric Age in Spain and review of the Literature

Oyarzabal Irigoyen M1, MD, García Cuartero B2, MD, Barrio Castellanos R3, MD, Torres Lacruz M4, MD, Gómez Gila AL5, MD, González Casado I6, MD, Hermoso López F7, MD, Luzuriaga Tomás C8, MD, Rica EtxebarriaI I9, MD, MJ López García, MD10, Rodríguez Rigual M11, MD

Abstract

DKA at diagnosis of T1DM is a life-threatening situation that represents the main cause of morbidity and mortality in pediatric patients with T1DM. Objective: To determine whether the occurrence and severity of DKA at diagnosis of T1DM has suffered any changes in recent years in the Spanish paediatric population. Patients and methods: Data from 1169 patients with T1DM under 15 years of age was retrospectively studied (2004 -2008) for the presence and severity of DKA at the onset of T1DM, and compared to previous available studies in Spain. This study is multicentric, nationwide with eleven major Paediatric Diabetes Units involved.

Results: Complete data were available from 1151 patients (98%). Frequency of DKA was 39.5%, which is not significantly different from previous Spanish studies. 33.8%, children of 0-4.9 years of age, 40.8% aged 5-10.9 and 25.2% aged 11-14.9 years. Mean age of patients with DKA was significantly lower than the one of patients without DKA (7.44±4.10 versus 8.47±3.63 years). Mild DKA was occurring more frequently than moderate and severe forms (47.8%, versus 34.4% versus 17.8%, p<0.0001). Incidence of severe DKA was significantly higher in children under 4.9 years of age, especially in those younger than 2 years (p<0.001). Severe DKA led to complications in three children (cerebral oedema [n=1]), cerebral infarction (n=1) and femoral vein thrombosis (n=1). Conclusion: Frequency of DKA at diagnosis of T1DM in Spain is still high although most cases were mild. Children under 2 years of age seem to be at increased risk for severe DKA.

Ref: Ped. Endocrinol. Rev. 2012;9(3): 669-671

Key words: childhood, onset, type 1 diabetes, DKA

 

Highlights from the First Thalassaemia Forum on Growth and Endocrine Complications in Thalassemia Doha, (October 2-3, 2011)

Vincenzo De Sanctis1, MD, Ahmad Elawwa2, MD, Michael Angastiniotis3, MD, Androulla Eleftheriou4, PhD, Christos Kattamis5, MD, Mehran Karimi6, MD, Mohamed El Kholy7, MD, Heba Elsedfy7, MD, Mohd Abdel Daem Mohd Yassin8, MD, Bernadette Fiscina9, MD, Ashraf T Soliman2, MD, PhD, FRCP

Ref: Ped. Endocrinol. Rev. 2012;9(3): 672-679

Keywords: Thalassaemia, growth, endocrine complications, oxidant –antioxidant biomarkers, iron overload

 

Israel Society for Metabolic Diseases, Winter Meeting Hadassah Medical Centre , Ein Kerem, Jerusalem, Israel (December 7, 2011) Anthony Luder, MD

Ref: Ped. Endocrinol. Rev. 2012;9(3): 680-681

Keywords: Treatment of metabolic disorders,Trimethylaminuria

 

The 9th Annual World Congress on the Insulin Resistance Syndrome Pediatric Insulin Resistance. Los Angeles, CA. (November 3-5, 2011)

Grace Kim, MD, Sonia Caprio, MD

Ref: Ped. Endocrinol. Rev. 2012;9(3): 682-684

This is the 9th of a series of articles based on the Pediatric presentations at the 9th Annual World Congress on the Insulin Resistance Syndrome held November 3-5, 2011