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"Idiopathic Short Stature"

Julia Quitmann, Anja Rohenkohl, Rachel Sommer, Monika Bullinger, Neuza Silva
BACKGROUND: In the context of health-related quality of life (HrQoL) assessment in pediatric short stature, the present study aimed to examine the levels of agreement/disagreement between parents' and children's reports of generic and condition-specific HrQoL, and to identify socio-demographic, clinical and psychosocial variables associated with the extent and direction of parent-child discrepancies. METHODS: This study was part of the retest phase of the QoLISSY project, which was a multicenter study conducted simultaneously in France, Germany, Spain, Sweden and UK...
October 21, 2016: Health and Quality of Life Outcomes
Marion Kessler, Michael Tenner, Michael Frey, Richard Noto
BACKGROUND: The objective of the study was to describe the pituitary volume (PV) in pediatric patients with isolated growth hormone deficiency (IGHD), idiopathic short stature (ISS) and normal controls. METHODS: Sixty-nine patients (57 male, 12 female), with a mean age of 11.9 (±2.0), were determined to have IGHD. ISS was identified in 29 patients (20 male, 9 female), with a mean age of 12.7 (±3.7). Sixty-six controls (28 female, 38 male), mean age 9.8 (±4.7) were also included...
October 1, 2016: Journal of Pediatric Endocrinology & Metabolism: JPEM
Manouk van der Steen, Rolph Pfundt, Stephan J W H Maas, Willie M Bakker-vanWaarde, Roelof J Odink, Anita C S Hokken-Koelega
BACKGROUND: Some children born SGA show advanced bone age (BA) during GH treatment. ACAN-gene mutations have been described in children with idiopathic short stature and advanced BA. OBJECTIVE: To determine presence of ACAN-gene mutations in short SGA children with advanced BA and to assess the response to GH treatment. METHODS: BA assessment in 290 GH-treated SGA children and ACAN-sequencing in 29 children with advanced BA of ≥0.5 years compared to calendar age...
October 6, 2016: Journal of Clinical Endocrinology and Metabolism
Nelly Mauras, Judith L Ross, Priscila Gagliardi, Y Miles Yu, Jobayer Hossain, Joseph Permuy, Ligeia Damaso, Debbie Merinbaum, Ravinder J Singh, Ximena Gaete, Veronica Mericq
CONTEXT: Growth of short children in puberty is limited by estrogen's effect on epiphyseal fusion. OBJECTIVES: To compare: (1) efficacy and safety of aromatase inhibitors (AIs) vs. GH vs. AI/GH on increasing adult height potential in pubertal boys with severe idiopathic short stature (ISS); and (2) body composition among groups. DESIGN: Randomized 3 arms open-label comparator Setting: Outpatient clinical research Patients: 76 pubertal boys, mean (SE) age: 14...
October 6, 2016: Journal of Clinical Endocrinology and Metabolism
Katerina Hirschfeldova, Martina Florianova, Vera Kebrdlova, Marketa Urbanova, Jitka Stekrova
Heterozygous aberrations of SHOX gene have been reported to be responsible for Léri-Weill dyschondrosteosis (LWD) and small portion of idiopathic short stature. The study was established to assess effectiveness of using phenotype 'scoring form' in patients indicated for SHOX gene defect analysis. The submitted study is based on a retrospective group of 352 unrelated patients enrolled as a part of the routine diagnostic practice and analyzed for aberrations affecting the SHOX gene. All participants were scanned for deletion/duplication within the main pseudoautosomal region (PAR1) using the multiplex ligation-dependent probe amplification (MLPA) method...
October 6, 2016: Journal of Human Genetics
Julie Auger, Amandine Baptiste, Imane Benabbad, Gaëlle Thierry, Jean-Marc Costa, Mélanie Amouyal, Marie-Laure Kottler, Bruno Leheup, Renaud Touraine, Sébastien Schmitt, Marine Lebrun, Valérie Cormier Daire, Jean-Paul Bonnefont, Nicolas de Roux, Caroline Elie, Myriam Rosilio
BACKGROUND: The aim of our study was to describe a large population with anomalies involving the SHOX region, responsible for idiopathic short stature and Léri-Weill dyschondrosteosis (LWD), and to identify a possible genotype/phenotype correlation. METHODS: We performed a retrospective multicenter study on French subjects with a SHOX region anomaly diagnosed by multiplex ligation-dependent probe amplification or Sanger sequencing. Phenotypes were collected in each of the 7 genetic laboratories practicing this technique for SHOX analysis...
September 28, 2016: Hormone Research in Pædiatrics
Sara Benito-Sanz, Alberta Belinchon-Martínez, Miriam Aza-Carmona, Carolina de la Torre, Celine Huber, Isabel González-Casado, Judith L Ross, N Simon Thomas, Andrew R Zinn, Valerie Cormier-Daire, Karen E Heath
Short stature homeobox gene (SHOX) is located in the pseudoautosomal region 1 of the sex chromosomes. It encodes a transcription factor implicated in the skeletal growth. Point mutations, deletions or duplications of SHOX or its transcriptional regulatory elements are associated with two skeletal dysplasias, Léri-Weill dyschondrosteosis (LWD) and Langer mesomelic dysplasia (LMD), as well as in a small proportion of idiopathic short stature (ISS) individuals. We have identified a total of 15 partial SHOX deletions and 13 partial SHOX duplications in LWD, LMD and ISS patients referred for routine SHOX diagnostics during a 10 year period (2004-2014)...
September 8, 2016: Journal of Human Genetics
Renata Stawerska, Elżbieta Czkwianianc, Joanna Smyczyńska, Maciej Hilczer, Andrzej Lewiński
OBJECTIVES: Ghrelin plays an important role in the growth processes in children, additionally, it regulates appetite. The aim of the study was to assess ghrelin and insulin-like growth factor type I (IGF-I) concentrations in children with idiopathic short stature (ISS), dependent on nutritional status. METHODS: The study group included 116 children, aged 10.6 ± 3.5 years (mean ± SD), with ISS [height below -2.0 standard deviation scores (SDS), maximal growth hormone (GH) secretion during two GH-stimulating tests - over 10 ng/ml]...
August 24, 2016: Journal of Pediatric Gastroenterology and Nutrition
Sung-Hwan Choi, Dong Fan, Mi-Soo Hwang, Hee-Kyung Lee, Chung-Ju Hwang
BACKGROUND/PURPOSE: Few studies have evaluated craniofacial growth in boys and girls with idiopathic short stature (ISS) during growth hormone (GH) treatment. The aim of this study was to evaluate the effect of GH treatment on craniofacial growth in children with ISS, compared with those with growth hormone deficiency (GHD). METHODS: This study included 36 children (mean age, 11.3 ± 1.8 years) who were treated with GH consecutively. Lateral cephalograms were analyzed before and 2 years after start of GH treatment...
July 12, 2016: Journal of the Formosan Medical Association, Taiwan Yi Zhi
Magdalena Mitka, Michał Bednarek, Bogdan Kałużewski
INTRODUCTION: The SHOX gene has been mapped at the pseudoautosomal region 1 (PAR1) of chromosomes X (Xp22.33) and Y (Yp11.32). The loss of SHOX gene functionality is assumed to be responsible for the Leri-Weill syndrome formation and the disproportionate short stature (DSS). The SHOX gene rearrangements constitute the majority of cases of gene functionality loss. Therefore, a practical application of the method, which allows for the diagnostics of the gene rearrangements, becomes a primary issue...
2016: Endokrynologia Polska
Carlos Del Águila, César Ortiz, Mirtha Yarlequé, Candy Bellido, Miguel Zaldivar, Juan Falen
OBJECTIVES: To describe the standardization of molecular detection and frequency of a growth hormone receptor gene deleted for exon three (GHRd3) polymorphism in a population of Peruvian children with idiopathic short stature. MATERIALS AND METHODS: Peripheral blood samples were used from patients (N=64) who were diagnosed with idiopathic short stature and were treated at the endocrinology unit of the National Institute of Child Health in Peru The amplification of exon 3 was carried out using G1, G2, and G3 primers by optimizing PCR conditions, such as annealing temperature and magnesium concentration...
March 2016: Revista Peruana de Medicina Experimental y Salud Pública
Maki Fukami, Atsuhito Seki, Tsutomu Ogata
SHOX in the short arm pseudoautosomal region (PAR1) of sex chromosomes is one of the major growth genes in humans. SHOX haploinsufficiency results in idiopathic short stature and Léri-Weill dyschondrosteosis and is associated with the short stature of patients with Turner syndrome. The SHOX protein likely controls chondrocyte apoptosis by regulating multiple target genes including BNP,Fgfr3, Agc1, and Ctgf. SHOX haploinsufficiency frequently results from deletions and duplications in PAR1 involving SHOX exons and/or the cis-acting enhancers, while exonic point mutations account for a small percentage of cases...
April 2016: Molecular Syndromology
Robert C Olney, Parisa Salehi, Timothy C R Prickett, John J Lima, Eric A Espiner, Kaitlin M Sikes, Mitchell E Geffner
OBJECTIVE: C-type natriuretic peptide (CNP) and its aminoterminal propeptide (NTproCNP) are potential biomarkers of recombinant human growth hormone (rhGH) efficacy. The objective of this study was to describe the pharmacodynamics of plasma CNP and NTproCNP levels in response to rhGH treatment and to identify the optimal time of sampling after starting rhGH. DESIGN: This was a prospective, observational study. Subjects were treated with rhGH for 1 year, with blood sampled at regular intervals...
October 2016: Clinical Endocrinology
Maria de Fátima Borges, Flávia Carolina Cândida Teixeira, Aline Karin Feltrin, Karina Alvarenga Ribeiro, Gabriel Antonio Nogueira Nascentes, Elisabete Aparecida Mantovani Rodrigues Resende, Beatriz Pires Ferreira, Adriana Paula Silva, Heloísa Marcelina Cunha Palhares
OBJECTIVES: To establish cut-off values for growth hormone concentrations using clonidine as a secretagogue and an immunochemiluminescent assay as the method of measurement and to analyze the response time as well as the influence of gender, nutritional status and pubertal stage. METHODS: A total of 225 tests were performed in 3 patient groups, categorized as group 1 (normal), group 2 (idiopathic short stature) and group 3 (growth hormone deficiency). Among the 199 disease-free individuals, 138 were prepubertal, and 61 were pubertal...
April 2016: Clinics
Elena Sukarova-Angelovska, Mirjana Kocova, Gordana Ilieva, Natalija Angelkova, Elena Kochova
BACKGROUND: Killian-Pallister syndrome (KPS) is a rare form of chromosomal mosaicism and is defined by the existence of an extra chromosome 12 in some cell lines in one individual. The degree of mosaicism varies among tissues and dictates the clinical presentation of the syndrome. The clinical features of Killian-Pallister syndrome include mental retardation, typical facial dysmorphism and pigmentation defects. CASE PRESENTATION: We present a rare case of Killian-Pallister syndrome with severe form of the disease associated with isolated growth hormone deficiency and low-rate mosaicism on buccal smear...
2016: Molecular Cytogenetics
Tero Varimo, Leo Dunkel, Kirsi Vaaralahti, Päivi J Miettinen, Matti Hero, Taneli Raivio
OBJECTIVE: Makorin ring finger protein 3 (MKRN3) gene restrains the hypothalamic-pituitary-gonadal axis. In girls, peripheral levels of MKRN3 decline prior to the onset of puberty. We described longitudinal changes in serum MKRN3 levels in boys before and during puberty and assessed the effect of inhibition of estrogen biosynthesis on MKRN3 levels. DESIGN: Longitudinal serum samples from a double-blind, randomized controlled study in 30 boys (age range: 9.1-14.2years) with idiopathic short stature who received placebo (Pl; n=14) or aromatase inhibitor letrozole (Lz; 2...
June 2016: European Journal of Endocrinology
Lucía C Martucci, Mariana L Gutiérrez, Liliana M Karabatas, Paula A Scaglia, Rodolfo A Rey, Horacio M Domené, Héctor G Jasper, Sabina Domené
Acid-labile subunit (ALS) is essential for stabilization of IGF-I and IGFBP-3 in ternary complexes within the vascular system. ALS deficient (ALS-D) patients and a subset of children with idiopathic short stature (ISS), presenting IGFALS gene variants, show variable degree of growth retardation associated to IGF-I and IGFBP-3 deficiencies. The aim of this study was to evaluate the potential pathogenicity of eleven IGFALS variants identified in ALS-D and ISS children using in silico and in vitro approaches...
July 5, 2016: Molecular and Cellular Endocrinology
Hirohito Shima, Toshiaki Tanaka, Tsutomu Kamimaki, Sumito Dateki, Koji Muroya, Reiko Horikawa, Junko Kanno, Masanori Adachi, Yasuhiro Naiki, Hiroyuki Tanaka, Hiroyo Mabe, Hideaki Yagasaki, Shigeo Kure, Yoichi Matsubara, Toshihiro Tajima, Kenichi Kashimada, Tomohiro Ishii, Yumi Asakura, Ikuma Fujiwara, Shun Soneda, Keisuke Nagasaki, Takashi Hamajima, Susumu Kanzaki, Tomoko Jinno, Tsutomu Ogata, Maki Fukami
The etiology of idiopathic short stature (ISS) and Leri-Weill dyschondrosteosis (LWD) in European patients is known to include SHOX mutations and copy-number variations (CNVs) involving SHOX and/or the highly evolutionarily conserved non-coding DNA elements (CNEs) flanking the gene. However, the frequency and types of SHOX abnormalities in non-European patients and the clinical importance of mutations in the CNEs remains to be clarified. Here, we performed systematic molecular analyses of SHOX for 328 Japanese patients with ISS or LWD...
July 2016: Journal of Human Genetics
Nicholas A Tritos, Anne Klibanski
PURPOSE: Describe the effects of growth hormone (GH) and insulin-like growth factor 1 (IGF-1) on the skeleton. FINDINGS: The GH and IGF-1 axis has pleiotropic effects on the skeleton throughout the lifespan by influencing bone formation and resorption. GH deficiency leads to decreased bone turnover, delayed statural growth in children, low bone mass, and increased fracture risk in adults. GH replacement improves adult stature in GH deficient children, increases bone mineral density (BMD) in adults, and helps to optimize peak bone acquisition in patients, during the transition from adolescence to adulthood, who have persistent GH deficiency...
2016: Progress in Molecular Biology and Translational Science
Kerstin Albertsson-Wikland, Anton Mårtensson, Lars Sävendahl, Aimon Niklasson, Peter Bang, Jovanna Dahlgren, Jan Gustafsson, Berit Kriström, Svante Norgren, Nils-Gunnar Pehrsson, Anders Odén
OBJECTIVE: This study aimed to investigate whether reported high mortality in childhood recombinant human GH (rhGH)-treated patients was related to birth-characteristics and/or rhGH treatment. DESIGN AND SETTING: We sought to develop a mortality model of the Swedish general population born between 1973 and 2010, using continuous-hazard functions adjusting for birth characteristics, sex, age intervals, and calendar year to estimate standardized mortality ratio (SMR) and to apply this model to assess expected deaths in Swedish rhGH-treated patients with idiopathic isolated GH deficiency (IGHD), idiopathic short stature (ISS) or born small for gestational age (SGA)...
May 2016: Journal of Clinical Endocrinology and Metabolism
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