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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 15.3

Mar 2018

 

 

 

In Memoriam:

Teruo Kitagawa, MD (1926-2017)

Tatsuhiko Urakami, MD

 

Ref: Ped. Endocrinol. Rev. 2017;15(3):194-195

doi: 10.17458/per.vol15.2018.u.im.teruokitagawa

 

For Debate: Combination Growth Hormone and Insulin-Like Growth Factor-I Therapy for Childhood Growth Disorders: Prime Time or Too Much Dime?

Mitchell E. Geffner, MD

Abstract

Although metabolic outcomes may be aided by dual therapy with GI and IGF-I, the one published study of the combination approach to treat children with non-GH-deficient short stature showed only a meager additional height response compared to that achieved with GH alone.

 

Ref: Ped. Endocrinol. Rev. 2018;15(3):196-199

doi: 10.17458/per.vol15.2018.g.fd.combinationgrowhhormoneandinsuline

 

 

Genetics of Primary Congenital Hypothyroidism

Nitash Zwaveling-Soonawala, MD, A.S. Paul van Trotsenburg, MD, PhD

Abstract

 

Congenital hypothyroidism (CH) is one of the most common preventable forms of mental retardation and since the implementation of neonatal screening programs in the mid-1970s, early detection and treatment have proven to be very successful in preventing brain damage. CH may be of thyroidal (= primary) or of hypothalamic-pituitary (= central) origin. Primary CH may be due to abnormal thyroid gland formation (dysgenesis) or defective thyroid hormone syntheses by a structurally normal gland (dyshormonogenesis). While thyroid dysgenesis is the most common form of CH, accounting for approximately 85% of cases, genetic defects are only found in a very low proportion of patients. On the other hand, thyroid dyshormonogenesis is less common, but is usually a genetic condition with autosomal recessive inheritance. In this review we provide an overview of all known monogenetic causes of primary CH, including promising new candidate genes. In addition, alternative genetic mechanisms are discussed.

 

Ref: Ped. Endocrinol. Rev. 2018;15(3):200-215

doi: 10.17458/per.vol15.2018.zst.geneticsprimaryhypothyroidism

 

 

Prolactin - Not Only a "Milk Hormone"

Prolactin - Growth Hormone Relationships with Emphasis on Cancer

Alon Farfel, MD, Haim Werner, PhD, Zvi Laron, MD PhD (hc)

Abstract

Prolactin (PRL) is a hormone secreted by lactotrophic cells in the anterior pituitary gland and its main function is the stimulation of lactogenesis. Research in recent years has revealed that PRL is also related to cancer development and plays a role in autoimmune diseases. PRL and Growth Hormone (GH) belong to the same cytokine family, both are, at least in part, secreted by the same somatomammotrophic cells in the anterior pituitary, and share similar signaling pathways. These common features raise the question whether PRL and GH share also joint actions especially in the pathogenesis of cancer.

 

Ref: Ped. Endocrinol. Rev. 2018;15(3):216-222

doi: 10.17458/per.vol15.2018.fwl.prolactinrelationshipscancer

 

 

Options for Fertility Preservation in Children

Asma Javed, MBBS, Zaraq Khan, MBBS, Siobhan T. Pittock, MB, BCh, Jani R. Jensen, MD

Abstract

Fertility preservation therapies can conserve future reproductive potential for persons facing serious medical diagnoses. With cure rates for childhood cancer reaching almost 80%, quality-of-life concerns for long-term survivors, including future parenting, are becoming more pertinent. Late effects of childhood cancer can be divided into physical, social, psychological, and spiritual domains. Potential loss of fertility threatens the well-being of these children in all these domains. Providers often hesitate to discuss fertility preservation with the patients. However, parental attitudes toward discussion of fertility preservation have been found to be open to such conversations for both prepubertal and postpubertal children who have a cancer diagnosis. Multiple national and international organizations recommend discussion with all persons having gonadotoxic therapy, including children, regarding the effect of planned treatment on future fertility and their options for fertility preservation. Renal or rheumatologic disease treated with high-dose cyclophosphamide and chromosomal anomalies such as Turner or Klinefelter syndrome may be amenable to fertility preservation. This essay reviews fertility preservation options available to children, as well as the expanding list of indications for fertility preservation.

 

Ref: Ped. Endocrinol. Rev. 2018;15(3):223-233

doi: 10.17458/per.vol15.2018.jkpj.fertilitypreservation

 

 

Fertility Preservation in Pubertal and Pre-Pubertal Boys with Cancer

Michael Jurewicz, MD, Joel Hillelsohn, MD, Sandeep Mehta, MD, Bruce R Gilbert, MD, PhD

Abstract

Children diagnosed with cancer continue to have improved survival due to advances in effective treatment options. Increased attention is therefore now focused on quality of life issues once they are cured. Fertility preservation is of paramount concern since gonadotoxic treatments, especially radiation and chemotherapy, often impair future fertility. The importance of family counseling and having an informed discussion about the potential for treatment to impair fertility and the options available for fertility preservation is crucial. However, fertility preservation in prepubertal boys is challenging, but not impossible. Experimental methods are being investigated including cryopreservation of immature testicular tissue, xenografting, and in vitro germ cell maturation. Despite the success and relative ease of sperm banking, barriers exist and affect the number of patients offered treatment. Education and awareness of the possibilities can overcome these barriers. In this way we will continue to preserve young patients’ future fertility and quality of life.

 

Ref: Ped. Endocrinol. Rev. 2018;15(3):234-243

doi: 10.17458/per.vol15.2018.jhmg.fertilitypubertalboys

 

 

Present Knowledge on the Etiology and Treatment of Adrenarche

Sharon E. Oberfield, MD, Rachel H. Tao, BA, Selma F. Witchel, MD

Abstract

Premature adrenarche (PA) has been assumed to be a benign variant of normal pubertal development. Yet, current collective information suggests associations between PA and potential risks for development of polycystic ovary syndrome and adult diseases such as the metabolic syndrome. Adrenarche refers to the increased secretion of the adrenal androgen precursors DHEA, DHEAS, and androstenedione, which normally occurs in children at age 6-8 years. PA may be identified clinically by early pubarche, which is defined as the development of pubic or axillary hair before 8 years in girls or 9 years in boys. This paper will consider adrenal steroidogenesis, genetic markers, neurobiological changes, skeletal maturation, and associations with adult disorders. The differential diagnosis will be reviewed because PA remains a diagnosis of exclusion. Finally, synthesis of current knowledge regarding PA, suggestions for evaluation, management, and treatment are offered.

 

Ref: Ped. Endocrinol. Rev. 2018;15(3):244-254

doi: 10.17458/per.vol15.2018.otw.etiologytreatmentadrenarche

 

 

Meeting Report:

2017 International Joint Meeting of Pediatric Endocrinology

Washington DC (September 14-17, 2017)

Selected Highlights

Alissa Roberts, MD, Angel Nip, MD, Arushi Verma, MB, BS, Allison LaRoche, MD, MPH

 

Ref: Ped. Endocrinol. Rev. 2018;15(3):255-266

doi: 10.17458/per.vol15.2018.rnvl.intjointwashington