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"Idiopathic Short Stature"

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https://www.readbyqxmd.com/read/29455392/the-psychometric-evaluation-of-the-quality-of-life-in-short-stature-youth-qolissy-instrument-for-german-children-born-small-for-gestational-age
#1
R Sommer, J Blömeke, M Bullinger, J Quitmann
PURPOSE: This study aimed to validate the disease-specific "quality of life in short stature youth (QoLISSY)-instrument" that assessesQuery the health-related quality of life (HrQoL) in German children and adolescents diagnosed as small for gestational age (SGA) in a patient and parent report. METHODS: The psychometric performance of the German version of the QoLISSY questionnaire was examined in terms of reliability and validity in 65 SGA families (17 child reports/64 parent reports) and compared to the psychometric performance of the original European QoLISSY dataset of over 200 children with growth hormone deficiency and idiopathic short stature (ISS)...
February 17, 2018: Journal of Endocrinological Investigation
https://www.readbyqxmd.com/read/29423542/evaluation-of-growth-hormone-response-to-ghrh-plus-arginine-test-in-children-with-idiopathic-short-stature-role-of-peak-time
#2
M Castagno, A Monzani, S Zanetta, G Genoni, E Giglione, R Ricotti, G Bona, F Prodam, S Bellone
PURPOSE: To describe the course of growth hormone response to growth hormone releasing hormone (GHRH) plus arginine provocative test in children with idiopathic short stature (ISS) and to evaluate the role of peak time. METHODS: A retrospective study was performed analyzing 344 GHRH plus arginine provocative tests performed in children and adolescents with short stature. Serum GH levels were measured at four-time points (T0', T30', T45' and T60') and GH peak was defined as the maximum value at any time point...
February 8, 2018: Journal of Endocrinological Investigation
https://www.readbyqxmd.com/read/29397377/a-genetic-approach-to-evaluation-of-short-stature-of-undetermined-cause
#3
REVIEW
Philip G Murray, Peter E Clayton, Steven D Chernausek
Short stature is a common presentation to paediatric endocrinologists. After exclusion of major endocrine or systemic disease, most children with short stature are diagnosed based on a description of their growth pattern and the height of their parents (eg, familial short stature). Height is a polygenic trait and genome-wide association studies have identified many of the associated genetic loci. Here we review the application of genetic studies, including copy number variant analysis, targeted gene panels, and whole-exome sequencing in children with idiopathic short stature...
January 31, 2018: Lancet Diabetes & Endocrinology
https://www.readbyqxmd.com/read/29302920/a-balanced-reciprocal-translocation-t-10-15-q22-3-q26-1-interrupting-acan-gene-in-a-family-with-proportionate-short-stature
#4
M Crippa, S Giangiobbe, R Villa, I Bestetti, T De Filippis, L Fatti, J Taurino, L Larizza, L Persani, F Bellini, P Finelli, M T Bonati
PURPOSE: Few examples of the involvement of a single gene in idiopathic short stature have been described until now. Our aim was to identify the causative gene of proportionate short stature in a large family showing co-segregation of the phenotype with the reciprocal translocation t(10;15)(q22;q24). METHODS: FISH mapping was carried out with BACs and long-range PCR probes to identify the smallest genomic regions harboring the translocation breakpoints. Real-Time RT-PCR was performed in blood after pre-amplification of target genes cDNA...
January 4, 2018: Journal of Endocrinological Investigation
https://www.readbyqxmd.com/read/29280742/the-rationale-for-growth-hormone-therapy-in-children-with-short-stature
#5
Annalisa Deodati, Stefano Cianfarani
Growth hormone (GH) was first isolated from cadaver pituitary glands, requiring laborious and expensive collection of glands, followed by extraction and purification of the hormone. This limited supply restricted its use to children with severe GH deficiency who were treated with low dosages and suboptimal schedules. The development of recombinant DNA-derived GH, allowed the production of virtually unlimited amounts of GH, leading to the approval for therapy for a large number of childhood conditions characterized by non-GH deficient short stature...
December 27, 2017: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/29218122/effect-of-growth-hormone-on-final-height-in-children-with-idiopathic-short-stature-a-uae-eastern-region-experience
#6
Shireen Mreish, Walid Kaplan, Fares Chedid
Objectives: The use of growth hormone (GH) in idiopathic short stature (ISS) has been a subject of debate for the past two decades. We sought to assess the effect of GH on final height (FH) in patients with ISS in our region, which has a high consanguinity rate, and compare it to the effect observed in GH deficient (GHD) patients. Methods: We conducted a retrospective chart review from 1 January 2005 to 31 December 2013 for patients with ISS or GHD from the local United Arab Emirates population who received GH treatment and were followed-up regularly in our clinic...
November 2017: Oman Medical Journal
https://www.readbyqxmd.com/read/29197220/allergic-and-non-allergic-skin-reactions-associated-with-growth-hormone-therapy-elucidation-of-causative-agents
#7
Shilpa Mehta, Vikash Oza, Renee Potashner, Patricia Zamora, Manish Raisingani, Bina Shah
BACKGROUND: Allergic and non-allergic skin reactions to recombinant human growth hormone (rhGH) are uncommon and infrequently reported. However, physicians should be aware of these potential side effects to determine whether the reactions constitute true allergies and how to proceed with growth hormone therapy. To review allergic and non-allergic skin reactions caused by rhGH and subsequent diagnostic workup and management options. CASE PRESENTATION: We report the case of a 12-year-old healthy male presenting with idiopathic short stature...
December 2, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/29188236/novel-dominant-negative-gh-receptor-mutations-expands-the-spectrum-of-ghi-and-igf-i-deficiency
#8
Kanimozhi Vairamani, Lina Merjaneh, Paula Casano-Sancho, Merve Emecen Sanli, Alessia David, Louise A Metherell, Martin O Savage, Jaime Sánchez Del Pozo, Philippe F Backeljauw, Ron G Rosenfeld, Javier Aisenberg, Andrew Dauber, Vivian Hwa
Context: Autosomal-recessive mutations in the growth hormone receptor (GHR) are the most common causes for primary growth hormone insensitivity (GHI) syndrome with classical GHI phenotypically characterized by severe short stature and marked insulin-like growth factor (IGF)-I deficiency. We report three families with dominant-negative heterozygous mutations in the intracellular domain of the GHR causing a nonclassical GHI phenotype. Objective: To determine if the identified GHR heterozygous variants exert potential dominant-negative effects and are the cause for the GHI phenotype in our patients...
April 1, 2017: Journal of the Endocrine Society
https://www.readbyqxmd.com/read/29158767/screening-of-shox-gene-sequence-variants-in-saudi-arabian-children-with-idiopathic-short-stature
#9
Abdulla A Alharthi, Ehab I El-Hallous, Iman M Talaat, Hamed A Alghamdi, Matar I Almalki, Ahmed Gaber
Purpose: Short stature affects approximately 2%-3% of children, representing one of the most frequent disorders for which clinical attention is sought during childhood. Despite assumed genetic heterogeneity, mutations or deletions in the short stature homeobox-containing gene (SHOX) are frequently detected in subjects with short stature. Idiopathic short stature (ISS) refers to patients with short stature for various unknown reasons. The goal of this study was to screen all the exons of SHOX to identify related mutations...
October 2017: Korean Journal of Pediatrics
https://www.readbyqxmd.com/read/29147571/a-surprising-treatment-response-in-a-patient-with-rare-isolated-growth-hormone-deficiency-type-ib
#10
Jordan Yardain Amar, Kimberly Borden, Elizabeth Watson, Talin Arslanian
Isolated Growth Hormone Deficiency (IGHD) is a rare cause of short stature, treated with the standard regimen of subcutaneous synthetic growth hormone (GH). Patients typically achieve a maximum height velocity in the first year of treatment, which then tapers shortly after treatment is stopped. We report a case of a 9-year-old male who presented with short stature (<3rd percentile for age and race). Basal hormone levels showed undetectable serum IGF1. Skeletal wrist age was consistent with chronologic age...
2017: Endocrinology, Diabetes & Metabolism Case Reports
https://www.readbyqxmd.com/read/29103133/recombinant-growth-hormone-therapy-for-prepubertal-children-with-idiopathic-short-stature-in-korea-a-phase-iii-randomized-trial
#11
J Kim, B-K Suh, C W Ko, K-H Lee, C H Shin, J S Hwang, H S Kim, W Y Chung, C J Kim, H-S Han, N Y Kwon, S Y Cho, H-W Yoo, D-K Jin
PURPOSE: Several studies have evaluated the effects of growth hormone (GH) on auxological and biochemical parameters in children with non-GH-deficient, idiopathic short stature (ISS). This study evaluated the efficacy and safety of Growtropin(®)-II (recombinant human GH) in Korean patients with ISS. METHODS: This was a 1-year, open-label, multicenter, phase III randomized trial of Growtropin(®)-II in Korean patients with ISS. In total, 70 prepubertal subjects (39 males, 31 females) between 4 and 12 years of age were included in the study...
November 4, 2017: Journal of Endocrinological Investigation
https://www.readbyqxmd.com/read/29025200/novel-genetic-cause-of-idiopathic-short-stature
#12
REVIEW
Min Jae Kang
Traditionally, the growth hormone - insulin-like growth factor I (GH - IGF-I) axis is the most important signaling pathway in linear growth, and defects in this axis present as growth hormone deficiencies or IGF-I deficiencies. However, subtle changes in serum levels of GH or IGF-I, caused by gene mutations involved in the GH - IGF-I axis, can present as idiopathic short stature (ISS). This paper briefly discusses GHR and IGFALS. In addition, recent studies have shown that many factors, including paracrine signals, extracellular matrix, and intracellular mechanisms of chondrocytes, regulate the growth plate independent of the GH - IGF-I system...
September 2017: Annals of Pediatric Endocrinology & Metabolism
https://www.readbyqxmd.com/read/28960605/children-s-psychosocial-functioning-and-parents-quality-of-life-in-paediatric-short-stature-the-mediating-role-of-caregiving-stress
#13
Neuza Silva, Monika Bullinger, Rachel Sommer, Anja Rohenkohl, Stefanie Witt, Julia Quitmann
OBJECTIVES: On the basis of the multidimensional model of the caregiving process, this study aimed (a) to compare the levels of quality of life (QoL) and psychological problems of children with short stature and the levels of caregiving stress and QoL of their parents, between diagnostic, treatment, and current height deviation groups, and (b) to examine the direct and indirect links, via caregiving stress, between children's psychosocial functioning and their parents' QoL. METHOD: The sample was collected in 5 European countries and comprised 238 dyads of 8- to 18-year-old children and adolescents with a clinical diagnosis of growth hormone deficiency or idiopathic short stature and one of their parents...
September 27, 2017: Clinical Psychology & Psychotherapy
https://www.readbyqxmd.com/read/28939912/genetic-screening-confirms-heterozygous-mutations-in-acan-as-a-major-cause-of-idiopathic-short-stature
#14
Nadine N Hauer, Heinrich Sticht, Sangamitra Boppudi, Christian Büttner, Cornelia Kraus, Udo Trautmann, Martin Zenker, Christiane Zweier, Antje Wiesener, Rami Abou Jamra, Dagmar Wieczorek, Jaqueline Kelkel, Anna-Maria Jung, Steffen Uebe, Arif B Ekici, Tilman Rohrer, André Reis, Helmuth-Günther Dörr, Christian T Thiel
Short stature is a common pediatric disorder affecting 3% of the population. However, the clinical variability and genetic heterogeneity prevents the identification of the underlying cause in about 80% of the patients. Recently, heterozygous mutations in the ACAN gene coding for the proteoglycan aggrecan, a main component of the cartilage matrix, were associated with idiopathic short stature. To ascertain the prevalence of ACAN mutations and broaden the phenotypic spectrum in patients with idiopathic short stature we performed sequence analyses in 428 families...
September 22, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28902627/serum-%C3%AE-klotho-levels-are-not-informative-for-the-evaluation-of-growth-hormone-secretion-in-short-children
#15
Cristina Meazza, Heba H Elsedfy, Randa I Khalaf, Fiorenzo Lupi, Sara Pagani, Mohamed El Kholy, Carmine Tinelli, Giorgio Radetti, Mauro Bozzola
BACKGROUND: α-Klotho is a transmembrane protein that can be cleaved and act as a circulating hormone (s-klotho). s-Klotho serum levels seem to reflect growth hormone (GH) secretory status. We investigated the role of s-klotho as a reliable marker of GH secretion in short children and the factors influencing its secretion. METHODS: We enrolled 40 short Egyptian children (20 GH deficiency [GHD] and 20 idiopathic short stature [ISS]). They underwent a pegvisomant-primed insulin tolerance test (ITT) and were accordingly reclassified as 16 GHD and 24 ISS...
October 26, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28885935/automated-bone-age-analysis-with-lossy-image-files
#16
Jordan E Pinsker, Michael S L Ching, Daniel P Chiles, Michael Lustik, C Becket Mahnke, Veronica J Rooks
BACKGROUND: In our U.S. Department of Defense hospital system, pediatric endocrinology and radiology resources to evaluate bone age radiographs are limited. Our tertiary care center provides expert specialty support to remotely stationed beneficiaries at more than 30 Department of Defense medical facilities using a well-established, asynchronous, Health Insurance Portability and Accountability Act compliant system that allows for physician-to-physician teleconsultation. Up to 14% of these teleconsultations are for endocrinology assessment, many of which include bone age analysis...
September 2017: Military Medicine
https://www.readbyqxmd.com/read/28877703/influence-of-growth-hormone-treatment-on-radiographic-indices-of-the-spine-propensity-matched-analysis
#17
Yeo-Hon Yun, Soon-Sun Kwon, Youngdo Koh, Dong-Jun Kim, Jonghyun Ahn, Seung Yeol Lee
BACKGROUND: We performed this study to investigate the influence of recombinant human growth hormone (rhGH) therapy on radiographic indices of the spine using propensity-matched analysis. METHODS: Patients with idiopathic short stature who had undergone both growth hormone therapy and whole-spine radiographs more than twice prior to 15 years of age were included in the patient group. Other patients who had undergone whole-spine radiographs more than twice prior to the same age during regular checkups for idiopathic scoliosis formed the control group...
September 6, 2017: Journal of Orthopaedic Surgery and Research
https://www.readbyqxmd.com/read/28873385/ghrelin-and-growth
#18
Reena Perchard, Peter E Clayton
Ghrelin is a pleiotropic hormone, whose effect on growth hormone secretion, through the growth hormone secretagogue (GHS) receptor, is one of its many actions. Relationships between GHS receptor gene variants and human height, both in healthy individuals and in patients with growth disorders have been identified. These include constitutional delay in growth and puberty, idiopathic short stature, and isolated growth hormone deficiency. In this review, we provide an overview of the role of ghrelin in growth.
2017: Endocrine Development
https://www.readbyqxmd.com/read/28852938/medicalising-short-children-with-growth-hormone-ethical-considerations-of-the-underlying-sociocultural-aspects
#19
Maria Cristina Murano
In 2003, the Food and Drug Administration approved the use of growth hormone treatment for idiopathic short stature children, i.e. children shorter than average due to an unknown medical cause. Given the absence of any pathological conditions, this decision has been contested as a case of medicalisation. The aim of this paper is to broaden the debate over the reasons for and against the treatment, to include considerations of the sociocultural phenomenon of the medicalisation of short stature, by means of a critical understanding of the concept of medicalisation...
August 29, 2017: Medicine, Health Care, and Philosophy
https://www.readbyqxmd.com/read/28830906/autosomal-recessive-chondrodysplasia-with-severe-short-stature-caused-by-a-biallelic-col10a1-variant
#20
Noor Ul Ain, Outi Makitie, Sadaf Naz
BACKGROUND: Heterozygous mutations in COL10A1 underlie metaphyseal chondrodysplasia, Schmid type (MCDS), an autosomal dominant skeletal dysplasia. OBJECTIVE: To identify the causative variant in a large consanguineous Pakistani family with severe skeletal dysplasia and marked lower limb deformity. METHODS: Whole exome sequencing was completed followed by Sanger sequencing to verify segregation of the identified variants. In silico variant pathogenicity predictions and amino acid conservation analyses were performed...
August 22, 2017: Journal of Medical Genetics
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