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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 15.1

Sep 2017

 

Ruth Illig, MD (1924-2017)

Annette Grüters-Kieslich, Toni Torresani, Daniel Konrad

 

Ref: Ped. Endocrinol. Rev. 2017;15(1):2-3

doi: 10.17458/per.vol15.2017.tk.im.ruthIllig

 

For Debate:

Does Cannabis Use by the Pregnant Mother Affect the Fetus and Newborn?

Paul Merlob, MD, Bracha Stahl, MSc Pharm, Gil Klinger, MD

Abstract

Cannabis, commonly called marijuana, is often used during pregnancy, likely due to the perception that it is a "safe" drug. Changes in legislation in many countries have lead to the increased availability of this drug and to its increasing use during pregnancy, often with other concomitant exposures such as alcohol, tobacco, and other drugs. Herein, we review the medical literature regarding effects of marijuana on the fetus and newborn. Possible effects of in utero exposure to marijuana focus on fetal growth, increase in the rates of stillbirth and preterm delivery, congenital malformations, and neurodevelopmental effects on the child. Published studies for all these outcomes are inconsistent. Fetal weight growth may be somewhat decreased, but the magnitude of this decrease is no greater than 100 g. There is insufficient evidence to conclude on any effect on the stillbirth rate. Although there are some reports of a slight increase in the rate of prematurity, most reports do not support this effect. Marijuana does not appear to be a major teratogen; however, a small increased risk for some congenital birth defects may be associated with early pregnancy use. Neurodevelopmental effects have been associated with marijuana use, but it is difficult to control for the effect of confounders. Despite the lack of conclusive evidence, it is important to remember that marijuana has not been shown to be a harmless drug during pregnancy and may affect the long-term neurodevelopment of the newborn infant.

 

Ref: Ped. Endocrinol. Rev. 2017;15(1):4-7

doi: 10.17458/per.vol15.2017.msk.fd.cannabispregnantmother

 

Human Sex Development: from Basic Science to Clinical Practice and Back

Anna Biason-Lauber, MD

Abstract

The process of sexual differentiation is central for the reproduction of almost all metazoan, and therefore for the maintenance of multicellular organisms. In sex development, we can distinguish two different processes¸ sex determination, the l decision directing the undifferentiated embryo into a sexually dimorphic individual. In mammals, sex determination equals gonadal development. The second process, sex differentiation, takes place once factors produced by the gonads determine the development of the phenotypic sex. Most of the knowledge on the factors involved in sexual development come from animal models and from studies of cases in which the genetic or the gonadal sex does not match the phenotypical sex, i.e. patients affected by disorders of sex development (DSD). This review focuses on the factors involved in gonadal determination and whenever possible, references on the ‘prismatic’ clinical cases are given. Furthermore, examples of diagnostic procedures for these complex diseases will be discussed.

 

Ref: Ped. Endocrinol. Rev. 2017;15(1):8-20

doi: 10.17458/per.vol15.2017.l.humansexdevelopment

 

Prenatal Treatment with Dexamethasone in Suspected Congenital Adrenal Hyperplasia and Orofacial Cleft: a Case Report and Review of the Literature

Yvonne Rijk, MD, Janielle van Alfen-van der Velden, MD, PhD, Hedi L Claahsen – van der Grinten, MD, PhD

Abstract

Congenital adrenal hyperplasia (CAH) due to 21 hydroxylase deficiency is a genetic disorder that leads to hypocortisolism, hyperandrogenism and, in the most severe forms, also to hypoaldosteronism. Girls with classic CAH are born with virilized external genitalia. Prenatal dexamethasone (DXM) treatment can reduce virilization but may have side effects for mother and fetus. We present the first case of a girl who was born with CAH and an orofacial cleft. She was treated with prenatal DXM to prevent virilization. Oral clefts have to be considered as a potential side effect of prenatal DXM treatment.

 

Ref: Ped. Endocrinol. Rev. 2017;15(1):21-25

doi: 10.17458/per.vol15.2017.rvc.prenataltreatment

 

Impact of Carbohydrate Restriction on Healthy Adolescent Development

Hannah M. Richmond, MS, David M. Duriancik, PhD

Abstract

Carbohydrate-restricted diets are known for their impact on weight loss; however, research is still required to determine if low-carbohydrate diets are safe for adolescents. Carbohydrates directly stimulate an insulin response, and studies have recently shown that insulin and binding to respective insulin receptors (IRs) are critical in Kisspeptin (Kiss1) neuronal development. These neurons directly stimulate gonadotropin-releasing hormone, which activates the pituitary-gonadal axis during puberty. This information suggests that carbohydrate restriction may delay pubertal development in adolescents due to the impact on insulin and Kiss1 transcription. Studies have observed disturbed insulin metabolism in Type I Diabetics leading to delayed puberty, along with overfeeding stimulating early pubertal onset. Additionally, recent clinical trials bred female mice with IR deletions on Kiss1 neurons and observed delayed vaginal opening and estrus. Current animal research suggests low carbohydrate intake may delay pubertal onset, however additional research is required to determine outcome in human subjects.

 

Ref: Ped. Endocrinol. Rev. 2017;15(1):26-32

doi: 10.17458/per.vol15.2017.rd.impactcarbohydraterestriction

 

Obesity in Survivors of Childhood Cancer: a Review

Julia Ferrari Carneiro Teixeira, Priscila dos Santos Maia-Lemos, PhD, Mônica dos Santos Cypriano, PhD, Luciana Pellegrini Pisani, PhD

Abstract

Obesity is a late effect of antineoplastic treatment in childhood cancer survivors and this correlates with chronic complications. This review examines the data currently available to health professionals, for increasing awareness and identifying strategies to address the treatment and prevention of late effects. The mechanism involved in the pathophysiology of obesity remains unclear. However, damage to the hypothalamus and endocrine disorders (e.g. insulin and leptin resistance) and a positive energetic balance may play a role in increasing obesity rates. A patient’s diet during, and after treatment may also influence the weight of survivors. Implementation of an effective educational program by professionals during all stages of treatment enables children to obtain basic knowledge regarding food and nutrition, thereby encouraging them to take responsibility for developing healthy eating behaviors.

 

Ref: Ped. Endocrinol. Rev. 2017;15(1):33-39

doi: 10.17458/per.vol15.2017.tlcp.obesitysurvivors

 

Meeting Report:

Endocrine Society (April 1-4, 2017)

Selected Highlights

Seema Jain, MD, Sara Akhtar, MD, Marwan Bakhach, MD, Johanna M. Viau-Colindres, MD

 

Ref: Ped. Endocrinol. Rev. 2017;15(1):40-52

doi: 10.17458/per.vol15.2017.jabc.mr.endocrinesociety

 

Meeting Report:

The 25th Anniversary of the Growth Hormone Research Society

Lisbon, Portugal, May 20, 2017

John J. Kopchick, PhD, Gudmundur Johannsson, MD, PhD

 

Ref: Ped. Endocrinol. Rev. 2017;15(1):53-56

doi: 10.17458/per.vol15.2017.kj.mr.25anniversaryghsociety

 

Meeting Report:

Exercise is Medicine Israel 5th Annual Conference – Endocrine Aspects

Tel Aviv, Israel, May 10th, 2017

Gal Dubnov-Raz, MD, Jürgen M. Steinacker, MD, Yonit Marcus, MD, Konstantina Dipla, PhD, Dror Dicker, MD, Jay R. Hoffman, PhD, Ilan Shimon, MD, Yona Greenman, MD, Liana Tripto-Shkolnik, MD, Dania Hirsch, MD, Assaf Buch, RD MSc, Mickey Arieli, Naama W. Constantini, MD

 

Ref: Ped. Endocrinol. Rev. 2017;15(1):57-59

doi: 10.17458/per.vol15.2017.rsm.mr.exerciseismedicine