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. 9.1

September 2011

 

Radioactive Iodine 131I (RAI) Treatment The Nearest To the “Magic Bullet” but Should Always Be Preceded By A Risk Assessment, Especially In the Pediatric Patient

Ernesto Lubin, MD

Abstract

Radioactive iodine treatment is very frequently the best approach, but it should be optimized by dosimetric and risk considerations.

Ref: Ped. Endocrinol. Rev. 2011;9(1):415-416

Keywords: Pediatric, 131I treatment, Graves’ Goiter,

Papillary Ca

 

From the Paediatric Endocrinology Club to the European Society for Paediatric Endocrinology: The Early Years of ESPE

Ruth Illig1, MD, Zvi Laron2, MD, PhD, (h.c.), Henk KA Visser,

Abstract

T he story of the founding of ESPE and of its first Annual Meetings as told by

Founding members.

Ref: Ped. Endocrinol. Rev. 2011;9(1):417-421

Key words: History of Pediatric Endocrinology, European Society for Paediatric Endocrinology (ESPE)

 

Brain Development Is A Multi-Level Regulated Process- The Case of The

OTX2 Gene

Galia Gat-Yablonski, PhD

The OTX2 gene encodes a key transcription factor in developmental processes. In particular, it is required for the early specification of the brain and the embryonic development of sensory organs, including the pituitary gland, pineal gland, inner part of the ear, eyes, and optic nerve. In later stages, it is important

for maintaining intact retina and brain function. Overexpression of OTX2 was found in medulloblastoma, a malignant brain tumor that occurs mainly in childhood. OTX2 mutations are associated with severe ocular phenotypes and central nervous system abnormalities such as seizures, short stature and developmental delay, combined pituitary hormone deficiency (CPHD), structural

abnormalities of the pituitary gland and early onset retinaldystrophy. There is no genotype-phenotype correlation and the severity of the disease varies not only by the specific OTX2 mutations but also among individuals harboring the same mutation, suggesting the involvement of multiple levels of regulation.

Ref: Ped. Endocrinol. Rev. 2011;9(1):422-430

Key words: OTX2, Brain development.

 

Experience of Adolescence in Patients Treated With GH during Childhood

Chantal Stheneur, MD PhD, Marc Sznajder, MD, Melissa Taylor, MD, Bertrand Chevallier, MD

Abstract

Objective

To assess quality of life (QoL) and self-esteem among older adolescents and young adults treated with growth hormone (GH) during childhood for partial or complete GH deficiency or small for gestational age (SGA) status.

Methods

Postal survey, including a general self-questionnaire and two QoL questionnaires (SF36 and QLS-H), conducted among patients treated with GH at the pediatric

outpatient clinic of the Ambroise Paré University Hospital (Boulogne-Billancourt, France) during the last 20 years.

Results

Thirty five patients (53.8 %) returned their questionnaires completed. Social adjustment and quality of life of patients evaluated was similar to the general population despite lower-than-average final height. However a negative impact on sexuality and relationships with members of the opposite sex was suggested by the later mean ages of first romantic kiss and first sexual intercourse (15.5 years and 19.0 years old, respectively).

Conclusion

Among patients treated with GH during childhood, psychological impacts may persist in late adolescence. These results indicate a need for improved management of GH-treated children at puberty.

Ref: Ped. Endocrinol. Rev. 2011;9(1):431-440

Key words: GH treatment, short stature, adolescence,

quality of life, sexuality.

 

Sport Training and the Growth and Pubertal Maturation of Young Athletes

Robert M. Malina1, PhD, FACSM, Alan D. Rogol2, MD, PhD, FACSM

Ref: Ped. Endocrinol. Rev. 2011;9(1):441-455

Keywords: sport training, growth, publicity in athletes

 

Relationship of Vitamin D Status and Cardiometabolic Risk Factors in

Children and Adolescents

Amy Salo, MS, RD, LD, CDE, John V. Logomarsino, PhD, RD, LD/N

Abstract

Metabolic syndrome is a constellation of cardiometabolic risk factors that includes insulin resistance, obesity, hypertension, and hyperlipidemia. A review of the literature was conducted to determine the relationship between low serum vitamin D status and risk factors for metabolic syndrome in children and adolescents. A review of human, animal, and cellular studies demonstrates conflicting evidence that a low serum vitamin D level is linked to the cause of obesity, hyperlipidemia, hypertension, and insulin resistance. However, there does appear to be an association between low serum vitamin D and these features, especially obesity. Due to a lack of concrete evidence for causation, current recommendations of up to 600 IU of vitamin D daily should be supplied to prevent deficiency in children.

Ref: Ped. Endocrinol. Rev. 2011;9(1):456-462

Keywords: Vitamin D, metabolic syndrome X, children, adolescents, obesity, insulin resistance, cardiovascular

 

Glucose Counterregulatory Responses to Hypoglycemia

Jennifer E. Sprague1, MD, PhD, Ana María Arbeláez2, MD

Abstract

The brain relies almost exclusively on glucose for fuel. Therefore, adequate uptake of glucose from the plasma is key for normal brain function and survival. Despite wide variations in glucose flux (i.e. fed state, fasting state, etc), blood glucose is maintained in a very narrow range. This is accomplished by a series

of hormonal and physiologic responses. As a result, hypoglycemia is a rare occurrence in normal individuals. However, glucose counterregulatory responses are altered in patients with diabetes treated with insulin especially after repeated hypoglycemia or antecedent exercise.

Ref: Ped. Endocrinol. Rev. 2011;9(1):463-473

Key Words: Hypoglycemia, Counterregulation

 

Central Diabetes Insipidus In Newborns: Unique Challenges In Management

Harish Chaudhary1, MD, Bhanu kiran Bhakhri2, MD, Vikram Datta3, MD, DNB

Central diabetes insipidus (CDI) in neonatal age can be a result of intracranial insult, either congenital or acquired. The management CDI in this age group poses special set of problems owing to obligate high water intake in milk-based feeds. Due to the risk of hyponatremia on long term anti diuretic hormone (ADH),

these babies should be managed on high volume of feeds with low content of renal solute load (RSL). Addition of thiazides may decrease the fluid requirements in these babies.

We report the challenges in management of CDI in a male newborn with underlying semilobar holoprosencephaly. The water and solute balance in such babies on different type of feeding options is discussed.

Ref: Ped. Endocrinol. Rev. 2011;9(1):476-478

Keywords: Holoprosencephaly, midline facial defects, neonatal central diabetes insipidus, renal solute load, diluted formula milk, hydrochlorothiazides

 

Growth Hormone Therapy: Emerging Dilemmas – A US Perspective

Mitchell E. Geffner, MD

 

Lawson Wilkins Pediatric Endocrine Society (PES) Annual Meeting, Denver, Colorado, USA

Juliana Austin, MD, MCR

Ref: Ped. Endocrinol Rev. Rev. 2011;9(1):481-485

Keywords: IGF1, Congenital adrenal Hypoplasia, adrenal diseases, genetic, SOX3, Genetic Testicular, Sexual developmental disorders, Vitamin D, Bone Diseases, Type 2 Diabetes Mellitus, Metabolic Syndrome, Thyroid Nodules,

Thyroid carcinoma