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"Idiopathic Short Stature"

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https://www.readbyqxmd.com/read/28525404/growth-hormone-treatment-for-growth-hormone-deficiency-and-idiopathic-short-stature-new-guidelines-shaped-by-the-presence-and-absence-of-evidence
#1
Adda Grimberg, David B Allen
PURPOSE OF REVIEW: The Pediatric Endocrine Society recently published new guidelines for the use of human growth hormone (hGH) and human insulin-like growth factor-I (hIGF-I) treatment for growth hormone deficiency, idiopathic short stature, and primary IGF-I deficiency in children and adolescents. This review places the new guidelines in historical contexts of the life cycle of hGH and the evolution of US health care, and highlights their future implications. RECENT FINDINGS: The new hGH guidelines, the first to be created by the Grading of Recommendations Assessment, Development and Evaluation approach, are more conservative than their predecessors...
May 18, 2017: Current Opinion in Pediatrics
https://www.readbyqxmd.com/read/28523647/computational-investigation-of-growth-hormone-receptor-trp169arg-heterozygous-mutation-in-a-child-with-short-stature
#2
William Farias Porto, Felipe Albuquerque Marques, Huri Brito Pogue, Maria Teresinha de Oliveira Cardoso, Maria Gabriela Rodrigues do Vale, Állan da Silva Pires, Octavio Luiz Franco, Sérgio Amorim de Alencar, Robert Pogue
Mutations in the growth hormone receptor (GHR) gene can cause disruption of the growth hormone signaling pathway, resulting in growth deficiency due to growth hormone (GH) resistance. Both recessive and apparently dominant mutations have been described in the literature. In order to shed some light on the molecular mechanism of partial growth hormone resistance caused by heterozygous mutations we performed an in-depth in silico analysis of a mutation found in a girl with a previous diagnosis of idiopathic short stature...
May 18, 2017: Journal of Cellular Biochemistry
https://www.readbyqxmd.com/read/28457480/how-should-we-investigate-children-with-growth-failure
#3
Juliane Léger
The early diagnosis of short stature is essential for effective management and treatment. Investigations for children with growth failure are required to distinguish between idiopathic short stature due to physiological variants (familial short stature, and constitutional delays of growth and puberty, or both), primary causes of short stature, such as syndromic and/or genetic defects and skeletal dysplasia, and secondary growth deficits due to endocrine or other chronic disorders such as celiac disease, Crohn's disease, malnutrition, renal, anorexia nervosa or other chronic diseases...
April 27, 2017: Annales D'endocrinologie
https://www.readbyqxmd.com/read/28447324/craniofacial-morphology-and-dental-maturity-in-children-with-reduced-somatic-growth-of-different-aetiology-and-the-effect-of-growth-hormone-treatment
#4
REVIEW
Sotiria Davidopoulou, Athina Chatzigianni
Children with reduced somatic growth may present various endocrinal diseases, especially growth hormone deficiency (GHD), idiopathic short stature (ISS), chromosomal aberrations, or genetic disorders. In an attempt to normalize the short stature, growth hormone (GH) is administered to these children. The aim of this literature review was to collect information about the craniofacial morphology and dental maturity in these children and to present the existing knowledge on the effect of GH treatment on the above structures...
December 2017: Progress in Orthodontics
https://www.readbyqxmd.com/read/28397185/validation-of-the-italian-quality-of-life-in-short-stature-youth-qolissy-questionnaire
#5
J Quitmann, A Giammarco, M Maghnie, F Napoli, I Di Giovanni, C Carducci, A Mohn, M Bullinger, R Sommer
PURPOSE: The Quality of Life in Short Stature Youth (QoLISSY) questionnaire is a disease-specific instrument developed to assess health-related quality of life (HrQoL) in children with short stature. While the original instrument was simultaneously developed in five European countries, this study describes the results of the Italian QoLISSY translation, cultural adaptation, and validation. METHODS: Focus group discussions and a cognitive debriefing process with children (N = 12) diagnosed with growth hormone deficiency or idiopathic short stature and one parent each, as well as parents of younger children (N = 20) were conducted to examine the linguistic and content validity of the Italian version...
April 10, 2017: Journal of Endocrinological Investigation
https://www.readbyqxmd.com/read/28396070/novel-pathogenic-acan-variants-in-non-syndromic-short-stature-patients
#6
Xuyun Hu, Baoheng Gui, Jiasun Su, Hongdou Li, Niu Li, Tingting Yu, Qinle Zhang, Yufei Xu, Guoqiang Li, Yulin Chen, Yanrong Qing, Chuan Li, Jingsi Luo, Xin Fan, Yu Ding, Juan Li, Jian Wang, Xiumin Wang, Shaoke Chen, Yiping Shen
BACKGROUND: Pathogenic variants of ACAN have been reported to cause spondyloepiphyseal dysplasia Kimberley type, spondyloepimetaphyseal dysplasia, familial osteochondritis dissecans and idiopathic short stature with normal to advanced bone age. A recent international cohort study significantly expanded the ACAN mutation spectrum, further delineated the heterogeneous clinical characteristics of ACAN mutation patients. The prevalence of ACAN mutation in short stature patients is yet unknown...
April 7, 2017: Clinica Chimica Acta; International Journal of Clinical Chemistry
https://www.readbyqxmd.com/read/28334714/new-genetic-diagnoses-of-short-stature-provide-insights-into-local-regulation-of-childhood-growth%C3%A2
#7
Anenisia C Andrade, Youn Hee Jee, Ola Nilsson
Idiopathic short stature is a common condition with a heterogeneous etiology. Advances in genetic methods, including genome sequencing techniques and bioinformatics approaches, have emerged as important tools to identify the genetic defects in families with monogenic short stature. These findings have contributed to the understanding of growth regulation and indicate that growth plate chondrogenesis, and therefore linear growth, is governed by a large number of genes important for different signaling pathways and cellular functions, including genetic defects in hormonal regulation, paracrine signaling, cartilage matrix, and fundamental cellular processes...
March 23, 2017: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/28331865/growth-hormone-utilization-review-in-a-pediatric-primary-care-setting
#8
Fatemeh Sayarifard, Fereshteh Bakhshi Imcheh, Shirinsadat Badri, Toktam Faghihi, Mostafa Qorbani, Mania Radfar
OBJECTIVE: One of the main problems facing public health providers and administrators in many countries is ensuring the rational use of high-cost drugs. In this regard, on-going process of medication use evaluation can be considered as a useful tool. In this study, we evaluated certain usage aspects of a highly-cost medication, that is, recombinant growth hormone (GH). METHODS: This cross-sectional study conducted from August 2012 to August 2014. Children receiving GH ± gonadotropin releasing hormone (GnRH) analogs were included in the study...
January 2017: Journal of Research in Pharmacy Practice
https://www.readbyqxmd.com/read/28331218/identification-of-a-novel-heterozygous-mutation-of-the-aggrecan-gene-in-a-family-with-idiopathic-short-stature-and-multiple-intervertebral-disc-herniation
#9
Sumito Dateki, Akiko Nakatomi, Satoshi Watanabe, Hitomi Shimizu, Yukiko Inoue, Hideo Baba, Koh-Ichiro Yoshiura, Hiroyuki Moriuchi
Aggrecan is a critical proteoglycan component of the extracellular matrix of the growth plates and articular cartilage and has a key role in the biophysical and biomechanical properties of cartilage. Recently, heterozygous mutations in the ACAN gene, which encodes aggrecan, have been identified in patients with short stature and accelerated bone age. We herein report another family with a heterozygous ACAN mutation associated with idiopathic short stature along with accelerated bone age and early-onset herniation of the lumbar discs at the levels of L1/2 through L5/S1...
March 23, 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/28324032/risk-of-diabetes-treated-in-early-adulthood-after-growth-hormone-treatment-of-short-stature-in-childhood
#10
Amélie Poidvin, Alain Weill, Emmanuel Ecosse, Joel Coste, Jean-Claude Carel
Context: Growth hormone (GH) is known to be diabetogenic, but the risk of diabetes in individuals treated with GH in childhood has been little evaluated, and conflicting results have been obtained. Objective: To investigate the prevalence of diabetes and gestational diabetes in a population-based cohort of patients treated with GH for short stature in childhood in France. Design, Setting, and Participants: Participants were a population-based cohort of 5100 children with idiopathic isolated GH deficiency, idiopathic short stature, or short stature in children born short for gestational age who started GH treatment between 1985 and 1996...
April 1, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28296370/-use-of-recombinant-human-growth-hormone-rhgh
#11
Raúl Calzada-León
Recombinant human growth hormone, synthesized in E.coli or mammalian cells cultures, is since 1985, a useful therapeutic resource to increase growth velocity and final height. In this paper are discussed the four phases (aims, security and efficacy, utility and efficiency) indispensables to define the start of treatment, as well as the absolute, relative and metabolic indications and the transitory and permanent conditions that contraindicate its use. It is commented the way to optimize the results (simple but indispensables indications for the physician, the patients and their family)...
March 2017: Revista Médica del Instituto Mexicano del Seguro Social
https://www.readbyqxmd.com/read/28261275/erratum-to-a-randomized-pilot-trial-of-growth-hormone-with-anastrozole-versus-growth-hormone-alone-starting-at-the-very-end-of-puberty-in-adolescents-with-idiopathic-short-stature
#12
Anya Rothenbuhler, Agnès Linglart, Pierre Bougnères
[This corrects the article DOI: 10.1186/1687-9856-2015-4.].
2017: International Journal of Pediatric Endocrinology
https://www.readbyqxmd.com/read/28105090/effects-of-recombinant-human-growth-hormone-in-the-treatment-of-dwarfism-and-relationship-between-igf-1-igfbp-3-and-thyroid-hormone
#13
Shanxiang Ren, Yuxiang Nie, Aihong Wang
The effects of recombinant human growth hormone (rhGH) in the treatment of dwarfism and the relationship between insulin-like growth factor (IGF)-1, IGF-binding protein (IGFBP)-3 and thyroid hormone were examined in the present study. For this purpose, 66 patients diagnosed with dwarfism were selected retrospectively, with 36 cases of growth hormone deficiency (GHD) and 30 cases of idiopathic short stature (ISS). The therapeutic dose of GHD 0.10 IU/kg·day and ISS 0.15 IU/kg·day were injected subcutaneously every night before sleep until adulthood...
December 2016: Experimental and Therapeutic Medicine
https://www.readbyqxmd.com/read/28099132/efficacy-of-long-term-growth-hormone-therapy-in-short-non-growth-hormone-deficient-children
#14
Lucia Schena, Cristina Meazza, Sara Pagani, Valeria Paganelli, Elena Bozzola, Carmine Tinelli, Fabio Buzi, Mauro Bozzola
BACKGROUND: In recent years, several studies have been published showing different responses to growth hormone (GH) treatment in idiopathic short stature children. The aim of the present study was to investigate whether non-growth-hormone-deficient (non-GHD) short children could benefit from long-term GH treatment as GHD patients. METHODS: We enrolled 22 prepubertal children and 22 age- and sex-matched GHD patients, with comparable height, body mass index (BMI), bone age, and insulin-like growth factor 1 (IGF-I) circulating levels...
February 1, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/27915352/baseline-characteristics-and-gender-differences-in-prepubertal-children-treated-with-growth-hormone-in-europe-usa-and-japan-25-years-kigs%C3%A2-experience-1987-2012-and-review
#15
Michael B Ranke, Anders Lindberg, Toshiaki Tanaka, Cecilia Camacho-Hübner, David B Dunger, Mitchell E Geffner
BACKGROUND: Information about disease-specific and gender-associated differences over longer time of short children treated with recombinant human growth hormone is missing. METHODS: We analyzed data at growth hormone (GH) start in prepubertal children diagnosed with idiopathic GH deficiency (IGHD), congenital GHD, acquired GHD, idiopathic short stature (ISS), and born small for gestational age (SGA) enrolled (1987-2012) in the Pfizer International Growth Study (KIGS®) from Europe, USA, and Japan...
2017: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/27884013/guidelines-for-growth-hormone-and-insulin-like-growth-factor-i-treatment-in-children-and-adolescents-growth-hormone-deficiency-idiopathic-short-stature-and-primary-insulin-like-growth-factor-i-deficiency
#16
Adda Grimberg, Sara A DiVall, Constantin Polychronakos, David B Allen, Laurie E Cohen, Jose Bernardo Quintos, Wilma C Rossi, Chris Feudtner, Mohammad Hassan Murad
BACKGROUND/AIMS: On behalf of the Drug and Therapeutics, and Ethics Committees of the Pediatric Endocrine Society, we sought to update the guidelines published in 2003 on the use of growth hormone (GH). Because idiopathic short stature (ISS) remains a controversial indication, and diagnostic challenges often blur the distinction between ISS, GH deficiency (GHD), and primary IGF-I deficiency (PIGFD), we focused on these three diagnoses, thereby adding recombinant IGF-I therapy to the GH guidelines for the first time...
2016: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/27784012/multiplex-ligation-dependent-probe-amplification-accurately-detects-turner-syndrome-in-girls-with-short-stature
#17
MULTICENTER STUDY
Anna Grandone, Francesca Del Vecchio Blanco, Annalaura Torella, Manuela Caruso, Filippo De Luca, Raffaella Di Mase, Maria Francesca Messina, Maria Carolina Salerno, Alessia Sallemi, Lucia Perone, Pierluigi Marzuillo, Emanuele Miraglia Del Giudice, Vincenzo Nigro, Laura Perrone
AIMS: We aimed at evaluating a standard multiplex ligation-dependent probe amplification (MLPA) probe set for the detection of aneuploidy to diagnose Turner syndrome (TS). We first fixed an MLPA ratio cutoff able to detect all cases of TS in a pilot TS group. We then tested this value on a second group of TS patients and a short-stature population to measure specificity and sensitivity. METHODS: 15 TS patients with X mosaicism or X structural abnormalities (Pilot TS Group), 45 TS karyotype-assessed patients (TS Group), and 74 prepubertal female patients with apparent idiopathic short stature (Short-Stature Group) were enrolled...
2016: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/27769269/explaining-parent-child-dis-agreement-in-generic-and-short-stature-specific-health-related-quality-of-life-reports-do-family-and-social-relationships-matter
#18
MULTICENTER STUDY
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
https://www.readbyqxmd.com/read/27710916/pituitary-volume-in-children-with-growth-hormone-deficiency-idiopathic-short-stature-and-controls
#19
COMPARATIVE STUDY
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
https://www.readbyqxmd.com/read/27710243/acan-gene-mutations-in-short-children-born-sga-and-response-to-growth-hormone-treatment
#20
Manouk van der Steen, Rolph Pfundt, Stephan J W H Maas, Willie M Bakker-van Waarde, Roelof J Odink, Anita C S Hokken-Koelega
Background: Some children born small for gestational age (SGA) show advanced bone age (BA) maturation during growth hormone (GH) treatment. ACAN gene mutations have been described in children with short stature and advanced BA. Objective: To determine the presence of ACAN gene mutations in short SGA children with advanced BA and assess the response to GH treatment. Methods: BA assessment in 290 GH-treated SGA children. ACAN sequencing in 29 children with advanced BA ≥0...
May 1, 2017: Journal of Clinical Endocrinology and Metabolism
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