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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. 8.1

September 2010

 

Human Papillomavirus Vaccination –

To Adolescents

Hanoch Levavi, MD

Abstract

Infection with the Human Papilloma Virus (HPV) is extremely common worldwide. Persistent infection with high-risk strains can lead to genital tract premalignant and malignant lesions. Two licensed prophylactic HPV vaccines against cervical malignancy are commercially

available.

In naive patients both vaccines showed close to 100%

efficacy against persistent infection and genital disease associated with the vaccine-targeted HPV types, as well as excellent safety over several years of study. Here we present a discussion on the appropriate age and gender in which to propose vaccination, and conclude that the most suitable recommendation is for vaccination of adolescents.

Ref: Ped. Endocrinol. Rev. 2010;8(1):2-5

Keywords: Human Papillomavirus; Genital Warts; Cervical Cancer; HPV Vaccine; Sexual Debut

 

 

Pediatric Brain Tumor

Treatment: Growth Consequences and their Management

Sogol Mostoufi-Moab1, MD, Adda Grimberg2, MD

Abstract

T umors of the central nervous system, the most common solid tumors of childhood, are a major source of cancer-related morbidity and mortality in children. Survival rates have improved significantly following treatment for childhood brain tumors, with this growing cohort of survivors at high risk of adverse medical and late effects. Endocrine morbidities are the most prominent disorder among the spectrum of longterm conditions, with growth hormone deficiency the most common endocrinopathy noted, either from tumor location or after cranial irradiation and treatment effects on the hypothalamic/pituitary unit. Deficiency of other anterior pituitary hormones can contribute to negative effects on growth, body image and composition, sexual function, skeletal health, and quality of life. Pediatric and adult endocrinologists often provide medical care to this increasing population. Therefore, a thorough understanding of the epidemiology and pathophysiology of growth failure as a consequence of childhood brain tumor, both during and after treatment, is necessary and the main focus of this review.

Ref: Ped. Endocrinol. Rev. 2010;8(1):6-17

Keywords: Pediatric Brain Tumors; Brain Tumor Treatment; Growth after Tumor Treatment; Irradiation; Chemotherapy; Growth Hormone; Pituitary; Late Sequelae

 

 

Septo-Optic Dysplasia

M.A. Fard, MD, W.Y. Wu-Chen, MD, B.L. Man, MD, N.R. Miller, MD

Abstract

Septo-optic dysplasia is a rare disorder characterized by optic nerve hypoplasia; midline developmental defects including agenesis of the septum pellucidum, thinning or absence of the corpus callosum, or both; and deficiencies of pituitary hormones. The majority of cases are sporadic but rare familial cases occur. The clinical manifestations include poor visual function in one or both eyes, developmental delay, seizures, sleep disturbances, and precocious puberty. A life-long multidisciplinary approach is crucial in the management of these patients to optimize their growth and development and to help them lead as normal lives as possible.

Ref: Ped. Endocrinol. Rev. 2010;8(1):18-24

Keywords: Septo-Optic Dysplasia; Optic Nerve Hypoplasia; Hypopituitarism; Agenesis of the Corpus Callosum; Septum Pellucidum

 

 

Pharmacological Treatment of Hyperthyroidism during Lactation: Review of the Literature

and Novel Data

Spiros Karras, MD, Themistoklis Tzotzas, MD, Themistoklis Kaltsas, MD, Gerasimos E. Krassas, MD, PhD, FRCP (Lond)

Abstract

Antithyroid drugs (ATD) are used as a first line treatment in thyrotoxicosis. Propylthiouracil (PTU), carbimazole (CMZ) and methimazole (MMI) are available. During absorption CMZ is bioactivated to MMI. Initially, mothers were not allowed to breastfeed during treatment with ATD. Newer studies minimized the risk for mother and infant. PTU should be preferred over MMI due to its lower milk concentration. Recent studies have shown severe hepatic dysfunction for both ATD, but especially for PTU, in hyperthyroid patients. Most of those cases were idiosyncratic, not-dose related and presented a latent period of occurrence. No biomarkers could predict hepatic damage. The American Thyroid Association (ATA) has recommended that PTU should not be prescribed as the first line agent in children and adolescents. Its use might be accepted in the first trimester of pregnancy for severe thyrotoxicosis or for patients with previous MMI adverse reactions. Considering the potential harmful effects of PTU, MMI should be used instead during lactation.

Ref: Ped. Endocrinol. Rev. 2010;8(1):25-33

Keywords: Antithyroid Drugs; Methimazole; Carbimazole; Propylthiouracil; Lactation; Breastfeeding; Hyperthyroidism; Pregnancy

 

 

SRD5A2 Gene Mutations - A Population-Based Review

Ratika Samtani1, MSc Anthropology, Minu Bajpai2, MS, MCH, P.K. Ghosh3, PhD, K.N. Saraswathy4, MSc, MPhil, PhD

Abstract

Knowledge of steroid 5 alpha-reductase type 2 (SRD5A2) gene mutations is expanding, and its role has been implicated in various disease susceptibilities concerning reproductive health. Extensive research has revealed the tendency for specific SRD5A2 gene mutations to be passed along certain racial, ethnic and geographically isolated groups, which suggests population specificity of these mutations. The review provides evidence of variation in the mutational spectrum of the SRD5A2 gene leading to population-specific high prevalence of characteristic disease or phenotypic expression.

Ref: Ped. Endocrinol. Rev. 2010;8(1):34-40

Keywords: Population-Specific Variants; SRD5A2 Gene Mutations; Male Pseudohermaphroditism; Prostate Cancer; Isolated Hypospadias

 

 

Endocrine Disruptors and Timing of Human Exposure

Ruth Braw-Tal, PhD

Abstract

A gradual decline in human fertility coincides with intensive industrial and agricultural development and the concomitant release of chemical waste into the environment. Among these chemicals are endocrine disruptors (EDs) which, in minute doses, have detrimental effects on reproductive health. Human exposure to EDs varies with age. Adults are exposed mainly through the ingestion of contaminated drinking water, meat, fat-dairy products and breathing polluted air. Infants are exposed to EDs through breast milk, baby products, and polluted air. Their abilities to detoxify xenobiotics are not mature yet and blood-brain barrier is not entirely developed, thus EDs may enter the central nervous system easily. Fetuses are exposed to EDs through the placenta. The most harmful effects on reproduction occur when embryos are exposed to them during “critical windows of development”, leading to irreversible, pathological changes in adult life. To create a healthier environment, scientific research must be translated into preventive policy legislation. Ref: Ped. Endocrinol. Rev. 2010;8(1):41-46

Keywords: Endocrine Disruptors; Human Exposure; Timing of Exposure; Polychlorinated Biphenyls; Bisphenol; Phthalates; Fetal Exposure; Dioxins

 

 

Meeting Highlights: Lawson Wilkins Pediatric Endocrine Society

Vancouver, Canada, May 1-3, 2010

Pisit Pitukcheewanont1, MD, Bhavna Bali1, MD, Karen Huang1, MD, Michelle Klein2, MD, Oksana Lekarev2, MD

Ref: Ped. Endocrinol. Rev. 2010;8(1):47-55

Keywords: Autoimmunity; Continuous Glucose Sensor; Dehydroepiandrosterone Sulfotransferase (SULT2A1); Fetal Goiter; Functional Magnetic Resonance Imaging; Gestational Diabetes Mellitus; Growth Hormone + IGF-I Combination Therapy; Growth Hormone Insensitivity Syndrome; Humanin; Hypoglycemia; Longevity; Menstrual Dysphoria; Papillary Thyroid Carcinoma; PAX8; 3’-Phosphoadenosine-5’-Phosphosulfate Synthase 2 (PAPSS2); Polycystic Ovarian Syndrome; Premature Pubarche; Pygmies; Sport Training; Stress Response; Thyroglobulin; Turner Syndrome