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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. 8.2

December 2010

 

Growing Pains: Myth or Reality

Liora Harel, MD

Abstract

Growing pains are common among children aged 2-12 years and are characterized by recurrent, self-limited, bilateral lower extremity pain, mostly in the afternoon and evening, and even at night, in an otherwise healthy child. The etiology is unknown and prognosis is excellent. It is important to distinguish between this benign condition and other serious rheumatic or malignant diseases.

Ref: Ped. Endocrinol. Rev. 2010;8(2):76-78

Keywords: Growing pains, nocturnal pains, children

 

 

Short stature Caused by Isolated SHOX Gene Haploinsufficiency: Update on the Diagnosis and Treatment

Mariana F.A. Funari1, MD, Mirian Y. Nishi1, MD, Ivo J. P. Arnhold1, MD, Berenice B. Mendonca1, MD, Alexander A. L. Jorge1,2, MD

Abstract

Heterozygous SHOX defects are observed in about 50 to 90% of patients with Leri-Weill dyschondrosteosis (LWD), a common dominant inherited skeletal dysplasia; and in 2 to 15% of children with idiopathic short stature (ISS), indicating that SHOX defects are the most important monogenetic cause of short stature. In addition, children selected by disproportionate idiopathic short stature had a higher frequency of SHOX mutations (22%). A careful clinical evaluation of family members with short stature is recommended since it usually revealed LWD patients in families first classified as having ISS or familial short stature. SHOX-molecular analysis is indicated in families with LWD and ISS children with disproportionate short stature. Treatment with recombinant human growth hormone is considered an accepted approach to treat short stature associated with isolated SHOX defect. Here we review clinical, molecular and therapeutic aspects of SHOX haploinsufficiency.

Ref: Ped. Endocrinol. Rev. 2010;8(2):79-85

Key words: Idiopathic Short Stature; Genetic; Growth Hormone Therapy; SHOX Gene; Skeletal Dysplasia; Leri- Weill Dyschondrosteosis; Diagnosis

 

 

Genetic and Epigenetic Findings in Silver-Russell Syndrome

Matthias Begemann1, MSc, Sabrina Spengler1, MSc, Carmen Schröder2, MD, Ulrike Kordaß3,MD, Gerhard Binder4, MD, Thomas Eggermann1, PhD, MSc

Abstract

Silver-Russell syndrome (SRS) is a genetically and clinically heterogeneous disease which is mainly characterized by pre- and postnatal growth restriction. The typical SRS phenotype furthermore includes a relative macrocephaly, a triangular shaped face, body asymmetry, clinodactyly of the fifth finger and other less constant features. In about ~50% of patients (epi)genetic alterations involving chromosomes 7 and 11 can be detected. The major finding (~44%) is a hypomethylation of the imprinting control region 1 (ICR1) in 11p15.5 affecting the expression of H19 and IGF2. 4-10% of the patients carry a maternal UPD of chromosome 7 (UPD(7)mat). In a few cases chromosomal rearrangements have been reported. The diagnostic workup should therefore include 11p15 testing, UPD(7)mat analysis and molecular karyotyping. The recurrence risk is generally low in SRS but it can strongly increase in case of familial epimutations or chromosomal rearrangements. Interestingly, in ~7% of 11p15 hypomethylation carriers, hypomethylation of additional imprinted loci can be detected. Clinically, patients with hypomethylation at multiple loci do not differ from those with isolated ICR1 hypomethylation whereas the UPD(7)mat patients generally show a milder phenotype. Nevertheless, an unambiguous (epi)genotype-phenotype correlation can not be delineated. Furthermore, the pathophysiological mechanisms resulting in the SRS phenotype still remain unknown despite the recent progress in deciphering molecular defects in the disease.

Ref: Ped. Endocrinol. Rev. 2010;8(2):86-93

Keywords: Silver-Russell syndrome; Epimutations; UPD(7) Mat; Chromosome 11p15; Multilocus Hypomethylation; Genetic Counselling; Chromosomal Aberration

 

 

Genetic and Epigenetic Influences Associated with Intrauterine Growth Restriction Due to In Utero Tobacco Exposure

Melissa Suter1, PhD, Adi Abramovici1, MD, Kjersti Aagaard-Tillery1, MD, PhD

Abstract

While many fetuses are exposed to tobacco in utero, not all experience adverse outcomes as a result of this exposure. Mechanisms leading to the attenuation of fetal birth weight and adverse pregnancy outcomes are complex. Therefore many studies have begun to focus, not only on the contribution of maternal and fetal genes to phenotypic outcome, but also on epigenetic changes associated with exposure to maternal tobacco smoke. In this review, we detail the epidemiologic evidence associating an adverse pregnancy outcome to maternal tobacco use. We provide a brief summary of studies demonstrating an association between maternal and fetal gene polymorphisms with low birth weight in response to maternal tobacco exposure. We also review the literature showing epigenetic changes in the offspring associated with in utero tobacco exposure. The complex interplay of genomic and epigenomic factors may contribute to specific phenotypic outcomes and can help begin to elucidate the differential susceptibilities to tobacco smoke in utero.

Ref: Ped. Endocrinol. Rev. 2010;8(2):94-102

Keywords: in utero tobacco exposure, fetal birth

weight, genetics, epigenetics

 

 

Non-Classic Unexpected Functions of Vitamin D

Yosef Weisman, MD

Abstract

Defects in the growth hormone (GH)-insulin-like growth factor (IGF)-I axis may cause GH resistance characterized by IGF-I deficiency and growth failure. The range of defects causing GH resistance is broad as are their biochemical and phenotypical characteristics. We propose that GH-IGF-I axis defects form a continuum of clinical and biochemical effects ranging from GH deficiency to GH resistance. The pathophysiology of GH resistance is described followed by a scheme for investigation of the child with severe short stature and normal GH secretion. We critically discuss GH therapy for such patients and define acceptable growth responsiveness. Finally we discuss therapy with IGF–I within the limits of the USA Food and Drug Administration and European Medicines Agency labels for GH resistance.

Ref: Ped. Endocrinol. Rev. 20010;7(4):

Key words: Growth; Growth Hormone; IGF-I, GH

Resistance; IGF-I T

Ref: Ped. Endocrinol. Rev. 2010;8(2):103-107

Key words: Vitamin D; vitamin D and Cancer; Vitamin D

and Immunity; Vitamin D and Cardiovascular Diseases

 

 

Preventive Thyroidectomy in Patients with Hereditary Medullary Thyroid

Carcinoma Found Heterozygote For Mutant RET Proto-Oncogene

Konstantinou Evangelos1, RN, BSN, MSc, PhD, Mariolis Sapsakos Theodoros2, MD, PhD, Fotis Theofanis3, RN, BSN, MSc, PhD, Mitsos Aristotelis4, MD, MSc, PhD(c) Restos Stilianos5, MD, Mamoura Konstantinia6, RN, MSc, Soultati Aspasia7, MD, PhD (c), Elefsiniotis Ioannis8, MD, PhD Kapellakis George9, MD, PhD

Abstract

The currently available genetic tests for identification of the RET proto-oncogene mutation offer the possibility of prospective successful therapy before the hyperplasia of C-cells evolve to Medullary Thyroid Carcinoma. We present our experience regarding the preventive thyroidectomy of family members with history of Medullary Thyroid Carcinoma, who were found to be heterozygote for mutant RET proto-oncogene. We have retrospectively reviewed 19 members of 6 families with history of Medullary Thyroid Carcinoma, who were heterozygote for mutant RET protooncogene and underwent prophylactic thyroidectomy. All patients included in this series were below twenty years of age. The Medullary Thyroid Carcinoma was asymptomatic and the mutation of RET protooncogene has been also documented pre-operatively in all of them. All patients had undergone total thyroidectomy, while 1 with pheochromocytoma had undergone also left epinephridectomy. Fourteen patients (73.68%) had undergone lymph-nodes resection (in 10 of them the resection was central, in 3 unilateral and in 1 bilateral). Although none of our patients suffered from hyperparathyroidism, 7 parathyroid glands have been also resected from 3 patients, while auto-transfusion has been performed in one. In all patients, preoperative measurement of the calcitonin blood levels before and after stimulation with pentagastrin has been performed.

Ref: Ped. Endocrinol. Rev. 2010;8(2):108-112

Keywords: medullary thyroid carcinoma, RET protooncogene, preventive thyroidectomy, C-cellular hyperplasia, calcitonin, thyroidectomy, lymph-node resection

 

 

Meeting Highlights: Endocrine Society, San Diego, California, June 19-22, 2010

Roshanak Monzavi1,4, MD, Mimi Kim1, MD, Juliana Austin, MD2, Amy Vedin1, MD, Sherry Franklin3, MD

Ref: Ped. Endocrynol. Rev. 2010;8(2):113-121

Key Words: growth hormone deficiency, transition period, short stature, recombinant human growth hormone, polycystic ovarian syndrome, CHD7, hypogonadotropic hypogonadism, Kallmann syndrome, CHARGE syndrome, FGFR1, FGF8, prokineticin receptor 2, prokineticin 2, newborn screening, congenital adrenal hyperplasia, congenital hypothyroidism, type 1 diabetes mellitus, and type 2 diabetes mellitus

 

 

Highlights from the Second European Workshop on Growth Plate Research 2010

Stephan-Stanislaw Späth1, Lars Sävendahl2, Cecilia Camacho-Hübner2,

Ola Nilsson1,2

Ref: Ped. Endocrinology. Rev 2010;8(1)122-124

Keywords: Gross plate, chondrogenesism,

mineralizations, malnutrition