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© 2017 by MEDICALMEDIA for PER Pediatric Endocrinology Reviews. All rights reserved

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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 14.4

June 2017

 

Worth Remembering:

Andries Querido, MD, 1912-2001 The Father of Clinical Endocrinology in the Netherlands

Henk KA Visser, MD, PhD

 

Ref: Ped. Endocrinol. Rev. 2017;14(4):344-347

doi: 10.17458/per.vol14.2017.KAV.WR.querido

 

For Debate:

Should Bariatric Surgery be Performed in Children and Adolescents with Hypothalamic Obesity?

Sarka Stolbova, MD, Marek Benes, MD, Lenka Petruzelkova, MD, Jan Lebl, MD, PhD, Stanislava Kolouskova, MD

 

Abstract

Hypothalamic dysfunction leading to severe obesity is a serious long-term consequence of paediatric craniopharyngioma. It compromises quality of life, leads to long-term metabolic hazards, and may shorten life expectancy. Therefore, a proactive approach is required. Conventional treatment of hypothalamic obesity is difficult and hardly successful. Experience with bariatric surgery is limited, especially in younger patients. Two retrospective studies recently reported on classic bariatric surgery in a small series of individuals after craniopharyngioma. Of these, one included nine paediatric patients who underwent laparoscopic adjustable gastric banding (LAGB), sleeve gastrectomy (SG), Roux-en-Y gastric bypass (RYGB) or biliopancreatic diversion (BPD). The immediate effects were promising: The mean weight loss was 20.9 kilograms at 6 months and 15.1 kilograms at 12 months.

A duodenal-jejunal bypass sleeve (DBJS; EndoBarrier) is a mini-invasive, endoscopically placed and fully reversible bariatric procedure. We reported a boy diagnosed with craniopharyngioma at 10 years old who underwent surgery and radiotherapy. His body weight increased to 139 kilograms and body mass index (BMI) to 46.1 kg/m2 (+4.0 SD) within the subsequent 4.5 years. Fifteen months after DJBS placement, he lost 32.8 kilograms, and his BMI dropped to 32.7 kg/m2 (+2.9 SD). Thus, DJBS proved to be a promising procedure in the treatment of hypothalamic obesity. We suggest performing it in children and adolescents with hypothalamic obesity to prevent or attenuate its devastating long-term sequelae.

 

Ref: Ped. Endocrinol. Rev. 2017;14(4):348-352

doi: 10.17458/per.vol14.2017.SBP.FD.Bariatric

 

Therapeutic Genome Editing and its Potential Enhancement through CRISPR Guide RNA and Cas9 Modifications

Nurit Assia Batzir, MD, Adi Tovin, PhD, Ayal Hendel, PhD

 

Abstract

Genome editing with engineered nucleases is a rapidly growing field thanks to transformative technologies that allow researchers to precisely alter genomes for numerous applications including basic research, biotechnology, and human gene therapy. The genome editing process relies on creating a site-specific DNA double-strand break (DSB) by engineered nucleases and then allowing the cell’s repair machinery to repair the break such that precise changes are made to the DNA sequence. The recent development of CRISPR-Cas systems as easily accessible and programmable tools for genome editing accelerates the progress towards using genome editing as a new approach to human therapeutics. Here we review how genome editing using engineered nucleases works and how using different genome editing outcomes can be used as a tool set for treating human diseases. We then review the major challenges of therapeutic genome editing and we discuss how its potential enhancement through CRISPR guide RNA and Cas9 protein modifications could resolve some of these challenges.

 

Ref: Ped. Endocrinol. Rev. 2017;14(4):353-363

doi: 10.17458/per.vol14.2017.BTH.Therapeu

 

Anti-Mullerian Hormone (AMH) Determinations in the Pediatric and Adolescent Endocrine Practice

Amir Weintraub, MD, Talia Eldar-Geva, MD, PhD

 

Abstract

Anti-Mullerian hormone (AMH), secreted by immature testicular Sertoli-cells, triggers the regression of male fetal Mullerian ducts. During puberty, AMH is downregulated by intratesticular testosterone. In females, AMH is secreted from granulosa cells of immature ovarian follicles from late prenatal life until menopause; serum concentration is 5-20 times lower in females than in males through lifetime. In boys, AMH determination is useful in the clinical setting as a marker of Sertoli cell function. Serum AMH is low in infants with hypogonadotrophic hypogonadism (and increases with FSH treatment), in patients with primary hypogonadism from early postnatal life and in Klinefelter syndrome from midpuberty. In boys with nonpalpable gonads, AMH determination is useful to distinguish between cryptorchidism and anorchism, as well as differentiating the dysgenetic causes of disorders of sexual development from those due to defective androgen synthesis or action. AMH can be used as a marker of sertoli/granulosa cell tumors and primary ovarian insufficiency in girls with delayed puberty, Turner Syndrome and after treatment with gonadotoxic agents.

 

Ref: Ped. Endocrinol. Rev. 2017;14(4):364-370

doi: 10.17458/per.vol14.2017.WG.Mullerian

 

Adolescent Gynecomastia

Carly E. Guss, MD, Amy D. Divasta, MD, MMSc

 

Abstract

Gynecomastia, defined as the presence of glandular breast tissue in men, is a common, typically benign physical exam finding during adolescence. Although the exact pathogenesis of gynecomastia is unknown, it is likely due to a hormonal imbalance between estrogens and androgens. Most cases are idiopathic and do not require further evaluation if the history and physical examination are reassuring. Although the majority of cases will resolve spontaneously, surgical correction may be an option for adolescents with persistent and problematic gynecomastia. Gynecomastia can have significant negative impact on one’s self-esteem, and it is crucial that primary care providers screen adolescents with gynecomastia for mental health concerns. Future studies are necessary to elucidate the true incidence and prevalence of gynecomastia in adolescent males, and to further investigate the short-term and long-term physical and emotional effects of gynecomastia.

 

Ref: Ped. Endocrinol. Rev. 2017;14(4):371-377

doi: 10.17458/per.vol14.2017.GD.Gynecomastia

 

Is the Second to Fourth Digit Ratio (2D:4D) a Biomarker of Sex-Steroids Activity?

Vincenzo de Sanctis, MD, Ashraf T Soliman, MD, PhD, FRCP, Heba Elsedfy, MD, Nada Soliman, MS, Rania Elalaily, MD, Salvatore Di Maio, MD

 

Abstract

The second-to-fourth digit ratio (2D:4D) has been used as an indirect method to investigate the putative effects of prenatal exposure to androgens, and has been reported to be smaller in males than in females. This gender difference in digit length ratios has been linked with the in utero balance of androgens to oestrogen. This sexual dimorphism in 2D:4D ratios is apparent by 2 years of age and seems to be established early in life, possibly by the 14th week of gestation. Digits in females attain their maximum length at about 2.2 years (dextral subjects) or 5.1 years (sinistral subjects) earlier than those in males and increase slightly with age. It has also been reported that the 2D:4D ratio is correlated negatively with prenatal testosterone levels. This tentative theory is partially supported by lower 2D:4D in girls with congenital adrenal hyperplasia (CAH), higher 2D:4D in individuals with complete androgen insensitivity syndrome (CAIS) and a relationship between 2D:4D and polymorphisms in the androgen receptor. In contrast, individuals with Klinefelter syndrome (KS), who have reduced testosterone secretion throughout life, have a mean 2D:4D value similar to those found in female population norms. Nevertheless, its validity has not yet been conclusively demonstrated and is currently debated. In this context, our aim was to review and debate the relationship between 2D:4D ratio and sex-steroids activity in children, adolescents and young adults.

 

Ref: Ped. Endocrinol. Rev. 2017;14(4):378-386

doi: 10.17458/per.vol14.2017.SSE.SexSteroids

 

Meeting Reports:

The Eight International Congress of the GRS and IGF Society Tel Aviv, November 6-9, 2016

Haim Werner, PhD

 

Ref: Ped. Endocrinol. Rev. 2017;14(4):387-389

doi: 10.17458/per.vol14.2017.W.MR.GRSIGF

 

Meeting Reports:

2016 Annual Meeting of the Sociedad Latinoamericana de Endocrinología Pediátrica (SLEP) Buenos Aires, Argentina (November 8-11, 2016), Selected Highlights

Romina Grinspon, MD, PhD, Débora Braslavsky, MD, Ana Chiesa, MD, PhD, Patricia Papendieck, MD, Patricia Pennisi, PhD, Florencia Clement MD, PhD, Ana Vieites, MD, PhD, Ana Keselman, MD, Mirta Gryngarten, MD, Analía Freire, MD, PhD, María Gabriela Ballerini, MS, Rodolfo Rey, MD, PhD, Ignacio Bergadá, MD, Horacio Domené, PhD

 

Ref: Ped. Endocrinol. Rev. 2017;14(4):390-401

doi: 10.17458/per.vol14.2017.GBC.MR.SLEP