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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 15.4

Jun 2018

 

 

For Debate:

 

Personalized Health Care: As Exemplified by Home Sodium Measurements in a Child with Central Diabetes Insipidus and Impaired Thirst Perception

A.A.A. van der Linde, MD, A.E. van Herwaarden, PhD, J.D. Oosting, PhD, H.L. Claahsen – van der Grinten, MD, PhD, E.P.L.M. de Grouw, PhD

Abstract

Background

We describe a 6-year old boy with central diabetes insipidus (CDI) caused by destruction of the pituitary gland due to treatment of an optical pathway glioma. He has been treated with chemotherapy and has had several debulking operations over the past years and consequently developed central hypocortisolism, hypothyroidism and CDI. The treatment of CDI was gravely complicated by an impaired thirst perception and compulsive drinking behavior. He was frequently seen at the ER or admitted due to dysregulation of fluid balance.

Methods

In order to provide better self-reliance, home point of care testing (POCT) sodium measurement was introduced.

Results

Realizing POCT sodium measurement resulted in a significant decrease of ER visits and clinical admissions due to dysregulation of fluid balance.

Conclusion

This case is an example of personalized health care and has led to better self-reliance and quality of life.

Abbreviations

POCT: Point of Care Testing

CDI: Central Diabetes Insipidus

ADH: Anti Diuretic Hormone

 

Ref: Ped. Endocrinol. Rev. 2018;15(4):276-279

doi: 10.17458/per.vol15.2018.lho.fd.CentralDiabetesInsipidus

 

Review of Current Care Models for Transgender Youth and Application to the Development of a Multidisciplinary Clinic – The Seattle Children’s Hospital Experience

Parisa Salehi, MD, Sara A. Divall, MD, Julia M. Crouch, MPH, Rebecca A. Hopkinson, MD, Leah Kroon, MN, RN, Jennifer Lawrence, LMFT, Benjamin S. Wilfond, MD, David J. Inwards-Breland, MD, MPH

Abstract

Care of transgender and gender diverse youth is complex and requires a multidisciplinary approach. Many transgender patients and providers feel the limited availability of affirming, knowledgeable professionals is a barrier to obtaining care. Such care can be provided through a clinic with providers from different disciplines who are trained in the unique care of transgender youth. In this paper, we discuss the care guidelines for transgender youth and the unresolved challenges that need to be addressed during the development of a transgender clinic. We describe our experience at Seattle Children’s Hospital in the development of a multidisciplinary Gender Clinic which incorporates the expertise of social work, mental health professionals, pediatric endocrinology, adolescent medicine, and bioethics. Other institutions may build from our experience, with the ultimate goal of further decreasing health disparities for young transgender patients.

 

Ref: Ped. Endocrinol. Rev. 2018;15(4):280-290

doi: 10.17458/per.vol15.2018.sdc.TransgenderYouth

 

The Effects of Diuretics on Mineral and Bone Metabolism

Uri S. Alon, MD

Abstract

The effects of diuretics on water and electrolyte metabolism are well-established, but less known to the clinician are their effects on bone and mineral metabolism, and in particular on that of calcium homeostasis. In general, and clinically most relevant, diuretics acting at the thick ascending limb of the loop of Henle cause loss of calcium into the urine, thus making them a useful tool in treating hypercalcemia. However the hypercalciuria caused by loop diuretics may lead to the development of urolithiasis and nephrocalcinosis, as well as secondary hyperparathyroidism and bone disease. On the other hand, thiazide diuretics that act more distally, increase tubular calcium reabsorption, thus providing protection against hypercalciuria, and with that may raise serum calcium, suppress PTH secretion and improve bone metabolism. Additional hypocalciuric effect may be observed with the use of potassium-sparing diuretics. This review will address the effects of diuretics on mineral metabolism in the kidney and consequently on systemic mineral and bone metabolism.

 

Ref: Ped. Endocrinol. Rev. 2018;15(4):291-297

doi: 10.17458/per.vol15.2018.a.DiureticsMineralBoneMetabolism

 

Gonadotropin-Releasing Hormone (GnRHa) Therapy for Central Precocious Puberty (CPP): Review of Nuances in Assessment of Height, Hormonal Suppression, Psychosocial Issues, and Weight Gain, with Patient Examples

Karen O. Klein, MD, Peter A. Lee, MD, PhD

Abstract

This review suggests a central theme: that the treatment of each patient presenting with evidence consistent with central precocious puberty (CPP) needs to be individualized. This pertains to multiple factors relating to growth and growth potential, monitoring patients on treatment with gonadotropin-releasing hormone analogue (GnRHa), evaluating psychological issues with CPP and therapy, and concerns about weight gain during GnRHa therapy. Individual cases are presented. New data on adult height and rate of bone age advance are included. GnRHa treatment is effective in improving adult height in children with precocious onset of puberty, rapid progression, and good growth potential. Monitoring suppression adequacy involves a random LH level < 0.6 IU/L or a GnRHa-stimulated peak LH level <4 IU/L as long as physical exam, growth rate, and rate of bone age progression, are also consistent with suppression. Abnormal psychosocial issues are rare with concerns primarily being related perceptions, real or perceived by others.

 

Ref: Ped. Endocrinol. Rev. 2018;15(4):298-312

doi: 10.17458/per.vol15.2018.kl.GnRHaforCPP

 

Thyroid Dimensions Using Handheld Point-of-Care (bedside) Ultrasound Scan of the Thyroid Gland in Neonates in Port Harcourt and a Review of Literature

Yarhere Iroro E, MB, BS, FWACP, Jaja Tamunopriye, MB, BS, FMCPaed

Abstract

Introduction

Handheld point-of-care (bedside) ultrasound scan machine is gaining popularity in clinical practice. Using point-of-care ultrasound scan can check the presence (anatomy) and blood flow within the thyroid gland and may be used as screening tool for CH.

Methodology

Neonates aged 0 – 3 days underwent ultrasound scan of the neck using a point-of-care (bedside) pocket sized GE V scan machine ® to demonstrate the thyroid dimensions and colour flow for each lobe of the gland. The mean dimensions generated were compared with those from a center in Glasgow, Scotland using Student’s “t”test.

Results

Seventy healthy neonates were recruited, 33 males and 37 females before being discharged from maternity units. The mean gestational age at birth was 39.4 weeks (range 37– 2) mean weight of the children was 2.98 kg (+0.51). The mean total thyroid volume was 1.62 mL (+0.18) and this was to that from Glasgow.

Conclusion

Handheld point-of-care (bedside) US is useful in determining thyroid gland dimensions in newborn babies and the volume measurements obtained thus far are comparable to those from Glasgow.

 

Ref: Ped. Endocrinol. Rev. 2018;15(4):313-318

doi: 10.17458/per.vol15.2018.it.ThyroidDimensionsNeonates

 

Meeting Report: Growth and Social Environment

Proceedings of the 25th Aschauer Soiree, held at Krobielowice, Poland, November 18th 2017

Slawomir Koziel, PhD, Christiane Scheffler, PhD, Janina Tutkuviene, PhD, Egle Marija Jakimaviciene, Rebekka Mumm, Davide Barbieri, PhD, Elena Godina, PhD, Mortada El-Shabrawi, MD, PhD, Mona Elhusseini, MD, Martin Musalek, Paulina Pruszkowska-Przybylska, Hanaa H. El Dash, Hebatalla Hassan Safar, Andreas Lehmann, James Swanson, MD, PhD, Barry Bogin, PhD, Yuk-Chien Liu, PhD, Detlef Groth, PhD, Sylvia Kirchengast, Anna Siniarska, PhD, Joanna Nieczuja-Dwojacka, PhD, Miroslav Králík, PhD, Takashi Satake, PhD, Tomasz Hanć, Mathieu Roelants, PhD, Michael Hermanussen, MD, PhD

Abstract

Twenty-two scientists met at Krobielowice, Poland, to discuss the impact of the social environment, spatial proximity, migration, poverty, but also psychological factors such as body perception and satisfaction, and social stressors such as elite sports, and teenage pregnancies, on child and adolescent growth. The data analysis included linear mixed effects models with different random effects, Monte Carlo analyses, and network simulations. The work stressed the importance of the peer group, but also included historic material, some considerations about body proportions, and growth in chronic liver, and congenital heart disease.

 

Ref: Ped. Endocrinol. Rev. 2018;15(4):319-329

doi: 10.17458/per.vol15.2018.ksh.mr.GrowthSocialEnvironment