Results 11 to 20 of about 3,357,239 (197)

Novel genetic cause of idiopathic short stature [PDF]

Annals of Pediatric Endocrinology & Metabolism, 2017
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
Min Jae Kang
doaj   +4 more sources

Short-acting growth hormone supplementation for bone age and growth rate in children with idiopathic short stature: a meta-analysis [PDF]

BMC Pediatrics
Objective To explore the effect of short-acting growth hormone (GH) supplementation on bone age and growth rate of children with idiopathic short stature.
Lianlian Yang, Fan Yang
doaj   +3 more sources

Goodbye, idiopathic short stature: why “healthy short stature” is a necessary advancement [PDF]

Archives of Endocrinology and Metabolism
Ivo J. Prado Arnhold, Berenice B. Mendonca   +1 more
doaj   +4 more sources

Short stature homeoboxcontaining gene and idiopathic short stature

Expert Review of Endocrinology & Metabolism, 2009
The term idiopathic short stature (ISS) refers to patients who are short due to various unknown reasons. Although it is clear that multiple factors contribute to final height, genetic factors play a crucial role. Mutations of a human homeobox gene, short stature homeobox-containing (SHOX) gene, have been shown to be associated with the short stature ...
IUGHETTI, Lorenzo, APPIO, Petronilla, CAPONE, Lucia, MADEO, Simona Filomena, PREDIERI, Barbara, BALLI, Fiorella, FORABOSCO, Antonino   +6 more
openaire   +4 more sources

Idiopathic Short Stature

Journal of Pediatric Endocrinology and Metabolism, 2001
Abstract Idiopathic short stature (ISS) is a term used to describe the status of children with short stature that cannot be attributed to a specific cause. Many children diagnosed as having ISS have partial GH insensitivity, which can result from disturbances at various points of the GH-IGF-I axis.
PASQUINO AM, ALBANESE A, BUTLER GE, BUZI F, CHERUBINI V, CHIARELLI F, CAVALLO L, DROP SL, STANHOPE R, KELNAR CJ, BOZZOLA, MAURO   +10 more
core   +5 more sources

Heterozygous NPR2 Variants in Idiopathic Short Stature

Genes, 2022
Heterozygous variants in the NPR2 gene, which encodes the B-type natriuretic peptide receptor (NPR-B), a regulator of skeletal growth, were reported in 2–6% cases of idiopathic short stature (ISS). Using next-generation sequencing (NGS), we aimed to assess the frequency of NPR2 variants in our study cohort consisting of 150 children and adolescents ...
Lana Stavber, Maria Joao Gaia, Tinka Hovnik, Barbara Jenko Bizjan, Maruša Debeljak, Jernej Kovač, Jasna Šuput Omladič, Tadej Battelino, Primož Kotnik, Klemen Dovč   +9 more
openaire   +3 more sources

Ghrelin Plasma Levels in Patients with Idiopathic Short Stature [PDF]

Hormone Research in Paediatrics, 2010
<i>Background:</i> Novel molecular insights have suggested that ghrelin may be involved in the pathogenesis of some forms of short stature. Recently, growth hormone secretagogue receptor (GHSR) mutations that segregate with short stature have been reported.
Iñíguez Vila, Germán, Román, Rossana, Youlton, Ronald, Cassorla Goluboff, Fernando, Mericq, Verónica   +4 more
core   +7 more sources

Diagnostic yield of a multigene sequencing approach in children classified as idiopathic short stature [PDF]

Endocrine Connections, 2022
Objective: Most children with short stature remain without an etiologic diagnosis after extensive clinical and laboratory evaluation and are classified as idiopathic short stature (ISS).
Nathalia Liberatoscioli Menezes Andrade, Mariana Ferreira de Assis Funari, Alexsandra Christianne Malaquias, Paulo Ferrez Collett-Solberg, Nathalia L R A Gomes, Renata Scalco, Naiara Castelo Branco Dantas, Raissa C Rezende, Angelica M F P Tiburcio, Micheline A R Souza, Bruna L Freire, Ana C V Krepischi, Carlos Alberto Longui, Antonio Marcondes Lerario, Ivo J P Arnhold, Alexander A L Jorge, Gabriela Andrade Vasques   +16 more
doaj   +2 more sources

Aggrecanopathy as an Underrecognized Cause of Idiopathic Short Stature: The Importance of Early Genetic Confirmation for Timely Diagnosis and Management—Case Reports and Literature Review [PDF]

Diseases
Background: Short stature is a frequent clinical problem with a broad differential diagnosis. Emerging evidence indicates that pathogenic variants in the ACAN gene represent an underrecognized cause of growth failure and are often misclassified as ...
Aleksandra Sosin, Tetiana Tkachuk, Aleksandra Furtak, Magdalena Janeczko, Karol Stożek, Teofila Książek, Helena Poławska, Damian Loska, Sebastian Wardak, Jerzy Starzyk, Dominika Januś   +10 more
doaj   +2 more sources

Ghrd3 polymorphism of growth hormone receptor gen in peruvian children with idiopathic short stature

Revista Peruana de Medicina Experimental y Salud Pública, 2016
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.
Carlos Del Águila, César Ortiz, Mirtha Yarlequé, Candy Bellido, Miguel Zaldivar, Juan Falen   +5 more
doaj   +2 more sources