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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 14.2

Dec 2016

 

In Memoriam:

Melvin M. Grumbach, MD, (1925-2016) Pediatric Endocrinologist, Scientist, Educator, Leader

Walter L. Miller, MD

 

 

In Memoriam:

Margaret H. MacGillivray, MD (1930-2016)

Teresa Quattrin, MD

 

 

For Debate:

Growth Hormone Treatment of Infants Born Small for Gestational Age should be Started at or  before the First Year of Age

Zvi Laron, MD, PhD (h.c), Tamar Laron-Kenet, MD, Gil Klinger, MD

 

Abstract

Children born small for gestational age without

early catch-up of somatic growth and head

circumference subsequently remain short and

suffer from various degrees of neurocognitive and

psychological impairment. Based upon the role of

growth hormone (GH) and insulin-like growth factor-I

on early brain growth and maturation, we propose that

GH treatment of these infants be instituted prior to

their 2nd birthday.

 

Ref: Ped. Endocrinol. Rev. 2016;14(2):105-108

doi: 10.17458/PER.2016.LLK.FD.Growthhormonetreatment

Key words: Small for Gestational Age (SGA), Short

stature, Neuro-Motor retardation, Cognitive deficit,

Learning difficulties, GH treatment

 

Disorders of Adrenal Steroidogenesis:Impact on Gonadal Function and Sex Development

Christiaan F. Mooij, MD, Antonius E. van Herwaarden, PhD,

Hedi L. Claahsen - van der Grinten, MD, PhD

 

Abstract

A defect in adrenal steroidogenesis may cause a

disorder of sex development (DSD). Importantly,

DSD of adrenal origin is not restricted to

a genital phenotype but is in most cases accompanied

by mild to severe impairment in glucocorticoid and/or

mineralocorticoid synthesis. If a patient is suspected of

DSD of adrenal origin evaluation of glucocorticoid and

mineralocorticoid metabolism is therefore essential to

provide adequate medical care in the case of a severe

and potentially life-threatening insufficiency. The

adrenal steroidogenic defects causing DSD, their clinical

features and diagnostic work-up are discussed. In this

review we provide an overview of defects in the adrenal

steroidogenesis and its impact on gonadal function and sex

development.

 

Ref: Ped. Endocrinol. Rev. 2016;14(2):109-128

doi: 10.17458/PER.2016.MEC.DisordersofAdrenal

Key words: Disorders of sexual development,

Steroidogenesis, Adrenal, Gonad

 

 

Surgery in Focal Congenital Hyperinsulinism (CHI) – The “Hyperinsulinism Germany International” Experience in 30 Children

Winfried Barthlen, MD, Emine Varol, MD, Susann Empting, Ilse Wieland, PhD, Martin Zenker, MD, Wolfgang Mohnike, MD, Silke Vogelgesang, MD, Klaus Mohnike, MD

 

Abstract

Objective

Results of surgery for focal CHI in 30 children

Patients and Methods

All showed an ABCC8 or KCNJ11 mutation. After PET/

CT in 29 children and PET/MRT in 1 case, frozen-section

guided resection was performed, in left-sided cases by

laparoscopy. Mean age at surgery was 11.7 months (2-49).

Results

In 28/30 children, the PET/CT or MRT correlated with

histopathology. In two cases, a focal lesion was undectable;

one of these was cured, one not.

In total, 24 children showed lesions with sizes of 5-12 mm.

All were cured instantly. In four children with huge lesions

in the pancreatic head, pathological cells remained at

the resection margins. One child was cured instantly, two

children after a 2nd surgery, and one child was not cured,

even after three surgeries. The overall cure rate was 93%.

Conclusions

Imaging, surgical findings, histopathology and clinical outcome

in surgery for focal CHI match in most, but not all cases.

 

Ref: Ped. Endocrinol. Rev. 2016;14(2):129-137

doi: 10.17458/PER.2016.BVE.Surgeryinfocal

Key words: Focal congenital hyperinsulinism, 18F-DOPA

PET/CT, -MRI, Genetics, Surgery

 

Sequelae of GH Treatment in Children with PWS

Maïthé Tauber, MD, Gwenaelle Diene, MD, Catherine Molinas

 

Abstract

More than 15 years after rGH was granted marketing

authorization for children with PWS, a review of

the sequelae, side effects and safety issues of rGH

therapy is timely. The publications on issues concerning

respiratory function, glucose metabolism, fat mass, and

scoliosis at baseline and with rGH treatment are herein

presented. We discuss the impact of rGH side effects,

make proposals to prevent or treat them, and emphasise

the remaining questions and perspectives. As a whole,

the benefit /risk ratio is positive, although questions are

raised about the role of GH in premature pubarche and

its long-term effects, particularly the potential long-term

oncogenic risk. The organisation of care in dedicated or

reference centres at the national and European level will

facilitate the collection and analysis of data and serve as a

paradigm for long-term follow-up.

 

Ref: Ped. Endocrinol. Rev. 2016;14(2):138-146

doi: 10.17458/PER.2016.TDM.SequelaeofGH

Key words: Growth hormone, Sleep-related disordered

breathing, Diabetes mellitus, Impaired glucose tolerance,

Safety

 

 

Myopathy in Pediatric Thyroid States: A Review of the Literature

Elena Dingle, MD, Resmy Palliyil-Gopi, MD, Maria Contreras, MD,

Brenda Kohn, MD, Preneet Cheema Brar, MD

 

Abstract

This review highlights the presentations of myopathy

in children in both hypothyroid and hyperthyroid

states with an emphasis on the pathophysiology,

diagnosis and treatment. Based on our review of the

literature data, myopathy should be considered in all

children presenting with muscular weakness or altered

muscle enzymes in the context of thyroid disease.

 

Ref: Ped. Endocrinol. Rev. 2016;14(2):147-158

doi: 10.17458/PER.2016.DGC.MyopathyinPediatric

Key words: Myopathy, Hypothyroid, Hyperthyroid,

Creatinine kinase

 

Oral Health in Children with Obesity or Diabetes Mellitus

Fima Lifshitz, MD, Patricia Lucia Casavalle, MD, Noemí Bordoni, PhD, Patricia Noemi Rodriguez, PhD, Silvia Maria Friedman, PhD

 

Abstract

Oral health status must be considered in the care of

children with obesity (OB) and diabetes mellitus

(DM). The health of these patients’ mouths may

have significant effects on their overall health and

evolution of their disease. Here we address periodontal

disease (PD) and dental caries (DC), since these are two

of the most common chronic diseases affecting OB and DM

patients. OB plays a plausible role in the development of

PD. Both overall OB and central adiposity are associated

with increased hazards of gingivitis and its progression

to PD. The inflammatory changes of PD might not be

limited to the oral cavity, these may also trigger systemic

consequences. Patients with type 1 and type 2 diabetes

mellitus (T1DM, T2DM) present an increased prevalence

of gingivitis and PD. In diabetics PD develops at a younger

age than in the healthy population, it also worsens with

the prolongation of DM. The progression to PD has been

correlated with the metabolic control of the disease as

it is more prevalent and more severe in patients with

elevated hemoglobin A1c (A1c) levels. PD negatively affects

glycemic control and other diabetes related complications

and there is a general consensus that treatment of PD can

positively influence these negative effects. Additionally,

DC is a multifactorial oral disease that is frequently

detected in those with OB and DM, although its prevalence

in systematic reviews is inconclusive. The associations

between gingivitis, PD and DC share similar behaviors,

i.e. inadequate oral hygiene habits and unhealthy dietary

intake. Insufficient tooth brushing and intake of sugary

foods may result in greater detrimental oral effects.

Maintaining oral health will prevent oral chronic diseases

and ameliorate the consequences of chronic inflammatory

processes. Thus, the care of obese and diabetic patients

requires a multidisciplinary team with medical and dental

health professionals.

 

 

 

Ref: Ped. Endocrinol. Rev. 2016;14(2):159-167

doi: 10.17458/PER.2016.LCB.Oralhealth

Key words: Oral health, Gingivitis, Periodontitis, Dental

caries, Obesity, Diabetes mellitus

 

 

Meeting Report:

2016 Annual Meeting of the Pediatric Endocrine Society

Baltimore, MD (April 29-May 2, 2016) Selected Highlights

Alaina Vidmar, MD, Jonathan Weber, MD, Rajeev Thirunagari, MD,

Sungeeta Agrawal, MD, Madhia Shahid, MD

 

Ref: Ped. Endocrinol. Rev. 2016;14(2):168-189

doi: 10.17458/PER.2016.VWT.MR.PES2016

Key words: Congenital adrenal hyperplasia,

Pheochromocytoma, Paraganglioma, Adrenocortical

carcinoma, Subclinical hypothyroidism, Congenital

hypothyroidism, Tri-iodothyronine therapy, Type 1

diabetes, Optic nerve hypoplasia, Septo-optic dysplasia,

Craniopharyngioma, Hypothalamic obesity, Cushing disease,

Acromegaly, Hyperprolactinemia, Dopamine agonists