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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 

Vol. 10.1

September 2012

 

In Memoriam: Heddy Landau, MD(1933-2012)

Zohar Landau, MD

Tel-Aviv, Israel

 

Body Composition Analysis in the Pediatric Population

David R. Weber1, MD, Mary B. Leonard2,3, MD, MSCE, Babette S. Zemel3,4, PhD

Abstract

Body composition analysis has become a useful tool in both clinical and research settings. Its use in the pediatric population is complicated by the rapid periods of growth and physical development that are characteristic of infancy, childhood, and adolescence. A thorough understanding of the changing nature of body composition during this time is essential for choosing the most appropriate measurement technique for a given individual, population, or clinical question. Growing evidence suggests that tissues such as fat, muscle, and bone are intimately involved in the regulation of whole body energy metabolism. This knowledge, when coupled with advancements in imaging techniques such as MRI and PET-CT, offers the possibility of developing new models of "functional" body composition. These models may prove to be especially important when assessing malnutrition and metabolic risk in patients with chronic disease.

Ref: Ped. Endocrinol. Rev. 2012;10(1):130-139

Key Words: Body Composition, Obesity, Fat Mass Index, Lean Body Mass Index, Body Mass Index, Metabolic Syndrome will

 

Long-Term Outcome and Adjustment among patients with DSD born with Testicular Differentiation and Masculinized External Genital Genitalia

Peter A. Lee1,2, MD, PhD, Christopher P. Houk3, MD

Abstract

This report of long-term outcome and quality of life among 6 patients with DSD born with varying amounts of both testicular differentiation and masculinization of external genitalia, with 46,XY karyotypes among 4, attempts to assess numerous aspects. Assessment of 5 patients who were assigned female at birth and a sixth whose maleness was never questioned. Findings from the neonatal period are reported, focusing upon initial diagnosis, gender assignment, parental involvement, surgical and medical care, gender behaviors, psychological counseling and support, mental health and school experiences through adolescent years. Family, social, work, and physical, sexual and mental health status during adult life forms a basis for quality of life.

Outcome vary from poor to good; influenced by parents’ ability and commitment to support, the patients’ personality and ability to accept their condition, quality of medical and surgical care, and family and friend support. Each of these factors could be improved by newer surgical techniques and more skilled psychological support. A basic underlying principal is the fact that in such complex cases, all factors cannot become ideal,  especially those related to fertility potential and sexual responsiveness, while with support of family and loved ones, quality of life can be satisfying and productive.

Ref: Ped. Endocrinol. Rev. 2012;10(1):140-151

Key words: Disorders of Sex Development (DSD), sex assignment, 46XY DSD, 5-α reductase deficiency, Gonadal DSD (45X, 46XXq-), quality of life.

 

Mechanisms of Compensatory Renal Growth

Roxana Cleper, MD

Abstract

Congenitally reduced renal mass- as with agenesis of one kidney, unilateral multicystic dysplastic kidney or with premature birth with early arrest of nephrogenesis- as well as acquired loss of a significant part of kidney tissue- as with kidney donation, after surgery for tumor etc- set in motion compensatory processes with main target to meet metabolic body needs. The sensors for reduced renal mass have not yet been identified. The effectors of the compensatory process include a wide range of growth factors- IGF1, TGF-b1, HGF- and signaling molecules-mTOR- which has intricate reciprocal interactions. As nephrogenesis stops at 34-36weeks of gestation and can't be restarted thereafter, the main result of this compensatory process is increase in glomerular size (glomerulomegaly) and tubular hypertrophy. Renal volume evaluation by ultrasound is a practical noninvasive tool for assessment of compensatory kidney growth. The increased nephron and kidney size induced by the compensatory process hve potential detrimental long-term effect through stretch-induced glomerular cell activation of profibrogenic and vasoconstrictor pathways as well as tubular cell nephrotoxicity caused by abnormal activation of reabsorptive mechanisms including GLUT1 and megalin. Deep understanding of these potentially damage process might help in timely implementation of protective strategies.

Ref: Ped. Endocrinol. Rev. 2012;10(1):152-163

Keywords: Kidney, Compensatory Renal Growth, GH/IGF1, TGF-b1,mTOR, prematurity, obesity, nephrogenesis, hypertrophy

 

Update on Treatment Strategies for Optimization of Final Adult Height in Children with Congenital Adrenal Hyperplasia

Asma Javed, M.B,B.S., Aida Lteif, M.D, Seema Kumar, MD

Abstract

Congenital adrenal hyperplasia (CAH) is one of the most common autosomal recessive disorders, caused by deficiency of an enzyme involved in adrenal synthesis of cortisol. Due to lack of feedback from cortisol, an elevation in ACTH occurs, shifting precursors of steroidogenesis into androgen synthesis. Both the disorder itself due to excess androgens and replacement with glucocorticoids can compromise final adult height. Also, unpredictable progression to precocious puberty in some patients can further compromise height. The achievement of normal growth remains the ultimate goal of treatment. This review will first examine the evidence behind deficits in adult height in CAH and implicated factors behind such compromise The primary goal of the review is to identify therapies to optimize height in CAH. This will include variations in 'standard' medical therapy and recent single and combination therapies with growth hormone, GnRH analogs, aromatase inhibitors and anti androgens to optimize final height in CAH.

Ref: Ped. Endocrinol. Rev. 2012;10(1):164-173

Keywords: CAH, final height, target height, precocious puberty, growth hormone, GnRH analogs, anti androgen, aromatase inhibitor

 

Fertility Preservation in Pediatric, Adolescent and Young Adult Female Cancer Patients

Leslie Ayensu-Coker1, MD, Dvora Bauman2, MD, Steven R. Lindheim3, MD, MMM, Lesley Breech1, MD

Abstract

Advancements in chemotherapy and radiation therapies have increased survival rates in cancer patients. Late effects of therapy, including infertility, become increasingly more important with increased survival. High dose alkylating agents, total body irradiation and radiation to the gonads have the greatest effect on fertility. Fertility preservation therapies improve the reproductive potential of adolescent and young adult cancer patients receiving cancer therapies. Gonadal shielding, ovarian transposition and embryo cryopreservation are standard fertility preserving therapies. Oocyte and ovarian tissue cryopreservation have proven successful and the latter may be implemented under IRB approval. Gonadal suppression with gonadotropin releasing hormone agonist (GnRH) therapy has yielded conflicting results and larger prospective trials in both adolescents and adults are necessary. A team approach involving oncology, gynecology and reproductive endocrinology and infertility provides the best outcome for patients.

Ref: Ped. Endocrinol. Rev. 2012;10(1):174-187

Key words: fertility preservation, oncofertility, cancer, oncology, pediatric and adolescent gynecology,

adolescent and young adult (AYA), ovarian failure, infertility, chemotherapy, radiation therapy, ovarian reserve, ovarian reserve testing