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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 16.3

Mar 2019

In Memoriam:

Paul A. Kelly, PhD (1943-2018)

Vincent Goffin, PhD

 

 

Worth Remembering:

Ing. Milan Zaoral, DrSc,

The Discoverer of Desmopressin (DDAVP) (5.5.1926 - 4.1.2011)

Jan Janda, MD

 

 

 

For Debate: When is Selenium Deficiency Suspected and When is Its Measurement Indicated?

Masanobu Kawai, MD, PhD

 

Abstract

Selenium (Se) is an essential trace element involved in numerous biological processes including the antioxidant defense system and thyroid hormone metabolism. Since the content of Se in the body is highly dependent on that in the environment, Se deficiency rarely occurs in individuals living in areas rich in Se; with the exception of preterm infants and patients nourished exclusively with parenteral and enteral nutrition (PN and EN) without Se supplementation. Severe Se deficiency causes increases in T4 levels associated with decreases in T3 levels due to the blockage of the conversion of T4 to T3.

 

Ref: Ped. Endocrinol. Rev. 2019;16(3):307-310

doi: 10.17458/per.vol16.2019.k.fd.seleniumdeficiency

Key words: Selenium, Selenium deficiency, Thyroid hormone, Deiodinase

 

 

Genetic Tumor Syndromes with Endocrine Involvement: A Compendium and an Update

Yevgeniya Kushchayeva, MD, PhD, Marissa Lightbourne, MD, MPH, Maya Lodish, MD, Constantine A. Stratakis, MD, D(Med)Sc

 

Abstract

Many hereditary and sporadic tumor and other syndromes are associated with endocrine functional and or structural abnormalities. The last few decades have yielded advancements in the field with improvements in diagnostic testing, screening guidelines and novel treatment options. In general, endocrine functional abnormalities and neoplasms share an early age of onset. There remains room for improvement as limited literature exists regarding clinical course, prognosis, and screening for earlier cancer detection. This should allow for more timely intervention, and possibly improved outcomes. The aim of this article is to summarize the current knowledge about prevalence, clinical course, and prognosis of functional and structural pituitary, thyroid, adrenal, and gonadal abnormalities in patients with 17 known syndromic, mostly tumor-predisposing, diseases; wherever possible, we review screening recommendations.

 

Ref: Ped. Endocrinol. Rev. 2019;16(3):311-334

doi: 10.17458/per.vol16.2019.kll.genetictumor

Key words: Syndromic diseases, Endocrine abnormalities, Screening

 

 

Apparent Mineralocorticoid Excess in the Pediatric Population: Report of a Novel Pathogenic Variant of the 11β-HSD2 Gene and Systematic Review of the Literature

Adam Adamidis, MD, Sena Cantas-Orsdemir, MD, Anna Tsirka, MD, Mary-Alice Abbott, MD PhD, Paul Visintainer, PhD, Ksenia Tonyushkina, MD

 

Abstract

Apparent mineralocorticoid excess (AME) is a rare inherited disorder caused by pathogenic variants in the 11β-HSD2 gene resulting in a deficiency of the 11β-hydroxysteroid dehydrogenase type 2 (11β-HSD2) enzyme catalyzing the conversion of cortisol to its inactive metabolite, cortisone. Impaired cortisol metabolism results in a mineralocorticoid excess-like state presenting as low renin, low aldosterone hypertension (HTN) and hypokalemia. Typically, AME is diagnosed in early childhood. Medical treatment to control HTN and hypokalemia often is only partially successful. Herein, we systematically review previously reported AME cases in the pediatric population, focusing on presentation, genetic basis, treatment and outcomes. We demonstrate a negative correlation between the ratio of urinary cortisol to cortisone metabolites, and the age of diagnosis (p=0.0051). We also report a novel causative variant of the 11β-HSD2 gene and propose an explanation for failure of the mineralocorticoid receptor antogonist, spironolactone, to control hypertension and hypokalemia in a subgroup of patients.

 

Ref: Ped. Endocrinol. Rev. 2019;16(3):335-358

doi: 10.17458/per.vol16.2019.act.mineralocorticoid

Key words: Low renin hypertension, Apparent mineralocorticoid excess, Hypokalemia, 11β-HSD2 gene

 

 

Enhanced Understanding of the Natural History of Pre-Type 1 Diabetes: Fundamental to Prevention

Brittany S. Bruggeman, MD, Desmond A. Schatz, MD

 

Abstract

Due to well-designed studies of birth cohorts and at-risk individuals, our understanding of the natural history of pre- and early type 1 diabetes (T1D) has advanced considerably over the past decade. Genetic risk scores can predict with increasing precision and accuracy who is at risk for T1D, and early staging based upon islet autoantibody status allows for improved mechanistic and natural history studies as well as improved clinical trial design. A growing number of children are being diagnosed with islet autoimmunity prior to the onset of symptoms, and confusion remains surrounding their proper management. These patients should have access to appropriate counseling and should be referred to a center that can provide information regarding current prevention trials. In the future, a successful prevention strategy for T1D would justify population-based screening for all children.

 

Ref: Ped. Endocrinol. Rev. 2019;16(3):359-368

doi: 10.17458/per.vol16.2019.bs.pretype1diabetes

Key words: Type 1 diabetes, Natural history, Staging, Prevention, Autoantibodies, Risk

 

 

To Freeze or Not to Freeze?

An Update on Fertility Preservation in Females with Turner Syndrome

MJ Schleedoorn, MD, van Alfen-van der Velden, AAEM, MD, PhD, DDM Braat, MD, PhD, R Peek, PhD, K Fleischer, MD, PhD

 

Abstract

Introduction

Infertility is a major concern for females with Turner syndrome (TS), regardless of their age. While fertility preservation is now routinely offered to girls and young women with cancer, there are currently no recommendations on fertility preservation in girls and young women with TS who generally face an even higher risk for infertility. Despite the lack of international guidelines, preservation procedures have been performed experimentally in females with TS.

Methods

A systematic literature search based on the PRISMA-P methodology for systematic reviews was performed in order to collect all published data on fertility preservation options in females with TS between January 1980 and April 2018. A total number of 67 records were included in this review. The records were screened for information regarding cryopreservation of mature oocytes and ovarian tissue in females with TS. Two ongoing trials on fertility preservation in young females with TS were also included.

Results

Cryopreservation of oocytes or ovarian tissue has been performed experimentally in >150 girls and adolescents with TS over the last 16 years. The efficacy of fertility preservation options in females with TS is still unknown due to the lack of follow-up data.

Conclusion

The efficacy of fertility preservation procedures in females with TS is still unknown. Future studies with focus on efficacy, safety and long-term follow-up are desperately needed.

 

Ref: Ped. Endocrinol. Rev. 2019;16(3):369-382

doi: 10.17458/per.vol16.2019.svb.tofreezeornot

Key words: Turner syndrome – Fertility preservation - Premature ovarian insufficiency – Ovarian tissue cryopreservation – Cryopreservation of oocytes

 

Meeting Report: The Role of Beliefs and Perception on Body Size. Proceedings of the 26th Aschauer Soiree, Held at Aschauhof, Altenhof, Germany, May 26th, 2018

Michael Hermanussen1, MD, PhD, Aman B Pulungan2, MD, PhD, Christiane Scheffler3, PhD, Rebekka Mumm3, Alan D Rogol4, MD, PhD, Raluca Pop5, MD, James M. Swanson, MD, PhD, Edmund Sonuga-Barke, PhD, FBA, FMedSci, Anna Reimann, Anna Siniarska-Wolanska, PhD, Martin Musalek, Barry Bogin, PhD, Jesper L Boldsen, PhD, P.G, (Vincent) Tassenaar, PhD, Detlef Groth, PhD, Yuk-Chien Liu, Christof Meigen, Björn Quanjer, Kristina Thompson, MSc, Başak Koca Özer, PhD, Ewa Bryl, Paula Mamrot, Tomasz Hanć, PhD, Slawomir Koziel, PhD, Jani Söderhäll, Aleksandra Gomula, PhD, Sudip Datta Banik, PhD, Mathieu Roelants, PhD, Gudrun Veldre, PhD, Leslie Sue Lieberman, PhD, Lynnette Leidy Sievert, PhD

 

Abstract

Thirty-one scientists met at Aschauhof, Germany to discuss the role of beliefs and self-perception on body size. In view of apparent growth stimulatory effects of dominance within the social group that is observed in social mammals, they discussed various aspects of competitive growth strategies and growth adjustments. Presentations included new data from Indonesia, a cohort-based prospective study from Merida, Yucatan, and evidence from recent meta-analyses and patterns of growth in the socially deprived. The effects of stress experienced during pregnancy and adverse childhood events were discussed, as well as obesity in school children, with emphasis on problems when using z-scores in extremely obese children. Aspects were presented on body image in African-American women, and body perception and the disappointments of menopause in view of feelings of attractiveness in different populations. Secular trends in height were presented, including short views on so called ‘racial types’ vs bio-plasticity, and historic data on early-life nutritional status and later-life socioeconomic outcomes during the Dutch potato famine. New tools for describing body proportions in patients with variable degrees of phocomelia were presented along with electronic growth charts. Bio-statisticians discussed the influence of randomness, community and network structures, and presented novel tools and methods for analyzing social network data.

 

Ref: Ped. Endocrinol. Rev. 2019;16(3):383-400

doi: 10.17458/per.vol16.2019.hps.mr.26achauersoiree

Key words: Body size, Social group, Social network, Body perception, Competitive growth strategies, Growth adjustment

 

Meeting Report: The Equality Project on Endocrine Complications in Thalassemia: Selected Highlights from the First Turkish Congress, Antalya (10th-11th December 2018)

Duran Canatan, MD, Vincenzo De Sanctis, MD, Joan-Lluis Vives Corrons, MD, Suheyla Gorar, MD, Doga Turkkahraman, MD, Riza Taner Baran, MD, Erdal Kurtoglu, MD, Vedat Aslan, MD, Funda Tayfun Kupesiz, MD, Zehra Diyar Tamburaci Uslu, MD, Zekiye Ozdemir, MD, Ozlem Erinekci, MD

 

Abstract

Major difficulties reported by endocrinologists /pediatricians/ hematologists in the care of thalassemic patients with endocrine complications were: lack of facilities, correct interpretation of tests, unfamiliarity with medical treatment and the cost of diagnostics and therapeutics. Therefore, there is a felt need to educate and train more endocrinologists/pediatricians/hematologists in this field in order to optimise growth and prevent endocrine complications. To achieve this goal, in 2015, a project called Equality was submitted by three countries (Turkey, Spain and Italy) and approved by the European Union (EU) with the aim to train doctors and nurses, taking care of youth and young adults TM patients, in the prevention, diagnosis, and management of endocrine disorders. The selected highlights of the First Turkish Congress held in Antalya (10th-11th December 2018) are reported. Overall the conference provided a wide coverage of conventional treatment of thalassemias and endocrine complications in patients with β-thalassemia major. Regular surveillance, early diagnosis, treatment and follow-up in a multi-disciplinary specialized setting are recommended.

 

Ref: Ped. Endocrinol. Rev. 2019;16(3):401-411

doi: 10.17458/per.vol16.2019.csc.mr.thalassemia

Key words: β-thalassemia major, Growth, Endocrine complications, Heart and endocrine dysfunctions, Treatment

 

 

Meeting Report: Report on the 9th International Congress of the Growth Hormone Research and IGF Societies, September 14-17, 2018, in Seattle, Washington, USA

 

Charles T. Roberts, Jr, PhD, Kevin CJ Yuen, MD

 

Ref: Ped. Endocrinol. Rev. 2019;16(3):412-415

doi: 10.17458/per.vol16.2019.ry.mr.GHIGFsocieties

Key words: Growth hormone, Insulin-like growth factors, Pituitary