Search results for "SHOX"
showing 10 items of 11 documents
Impaired GH secretion in patients with SHOX deficiency and efficacy of recombinant human GH therapy.
2012
<b><i>Background/Aims:</i></b> Mutations of the short stature homeobox-containing <i>(SHOX)</i> gene on the pseudoautosomal region of the sex chromosomes cause short stature. GH treatment has been recently proposed to improve height in short patients with SHOX deficiency. The aim of this study was to evaluate GH secretion and analyze growth and safety of recombinant human GH (rhGH) therapy in short children and adolescents with SHOX deficiency. <b><i>Patients and Design:</i></b> We studied 16 patients (10 females; 9.7 ± 2.9 years old; height –2.46 ± 0.82 standard deviation score, SDS) with SHOX deficiency. All subjects underwent au…
GH successful treatment in a female with a de novo 46,XX,add(X)(p36),t(X;Y)(p36.3;p11.2), growth impairment and SHOX-haploinsufficiency
2019
Abstract Children with chromosome translocations, concerning X chromosome, have a genetic pattern different from Turner syndrome; however, when a translocation involves the of part of X chromosome including short stature homeobox-containing Sex-determining Region Y gene, growth may be severely compromised. We describe the clinical case of a 2.2-year-old-female, arrived at our paediatric unit for a decrease of height velocity. The karyotype was 46,XX,add(X)(p36.3). Array comparative genomic hybridization showed a fragment of Y chromosome, extended from 8.803.981 (Yp11.2) to 28.767.604 (Yq11.23). The final karyotype was 46,XX,add(X)(p36),t(X;Y)(p36.3;p11.2). Fluorescence in situ Hybridization…
Shox-Haploinsufficiency Intra-Familial Phenotipic Variability and The Impact On Final Height: Report of a Pedigree
2019
SHOX haploinsufficiency (SHOX-D) is a genetic cause of disharmonic short stature. However, the different impact on phenotype can show differences between patients with the same genotype. GH ameliorates final height, with significant differences between patients for the putative role of environmental factors who can influence growth. We describe the case of two sisters with SHOX-D (target height: 146.8 cm (-2.6SDS); mother: 146.5 cm; father: 160 cm). ZM was first evaluated at the age of 6.8 years for disharmonic short stature: stature: 103.5 cm; SPAN: 99 cm. She was affected by SHOX-D (heterozygous missense mutation c414G>C: p.Glu138Asp of the exon 3). The same mutation was first confirme…
STATURA DEFINITIVA NELL’APLOINSUFFICIENZA DEL GENE SHOX: VARIABILITA’ INTRA-FAMILIARE
2019
Causa genetica di bassa statura disarmonica, l’aploinsufficienza del gene SHOX (SHOX-D) presenta differente espressione fenotipica anche in pazienti con eguale genotipo, con verosimile influenza di fattori epigenetici in grado di condizionare anche la risposta alla terapia con GH e la statura definitiva. Descriviamo il caso di un nucleo familiare (madre, 2 sorelle) con SHOX-D. Statura target: 146.8 cm (-2.6SDS); madre: 146.5 cm; padre: 160 cm). ZM è stata studiata all’età di 6,8 aa per bassa statura disarmonica: statura: 103.5 cm (-3SDS); SPAN: 99 cm; (BA: 6 aa). È stata documentata la mutazione missenso del gene SHOX (c414G>C: p.Glu138Asp dell’esone 3) ed iniziata terapia con GH. La ste…
VARIABILITA’ INTRA-FAMILIARE FENOTIPICA E SULLA STATURA DEFINITIVA NELL’APLOINSUFFICIENZA DEL GENE SHOX
2019
Base genetica di alcuni casi di bassa statura disarmonica, l’aploinsufficienza del gene SHOX (SHOX-D) causa differente espressione fenotipica anche in pazienti con eguale genotipo, con verosimile influenza di fattori epigenetici in grado di condizionare anche la risposta alla terapia con GH e la statura definitiva.Descriviamo il caso di un nucleo familiare (due sorelle e la madre) con SHOX-D. la statura target è 146.8 cm (-2.6SDS); madre: 146.5 cm; padre: 160 cm).ZM è stata studiata all’età di 6,8 aa per bassa statura disarmonica: statura: 103.5 cm (-3SDS); SPAN: 99 cm; (BA: 6 aa). E’ stata documentata la mutazione missenso del gene SHOX (c414G>C: p.Glu138Asp dell’esone 3) ed iniziata te…
The Role of SHOX Gene in Idiopathic Short Stature: an Italian Multicenter Study
2014
SHOX Haploinsufficiency in Short and Not Short Children: A Sigle Italian Cetre Data
2018
SHOX haploinsufficiency (SHOX-D) is a cause of disharmonic short stature and a possible genetic cause of idiopathic short stature also in familial cases. We describe clinical, hormonal and genetic characteristics of patients with SHOX-D haploinsufficiency, followed and treated in the period 2014-2017, in a single Italian centre. The Rappold score was used to screen short children, to select those who needed a genetic analysis of SHOX gene by MLPA and sequencing. We selected 6 patients (5 females; 1 male; age: 1.2-11 years), with documented mutations of the SHOX gene or of the promoter. One patient was already treated with low doses of GH for GHD, documented by 2 tests. One patient had type …
SHOX HAPLOINSUFFICIENCY INTRA FAMILIAL PHENOTIPIC VARIABILITY AND THE IMPACT ON FINAL HEIGHT: REPORT OF A PEDIGREE
2019
SHOX haploinsufficiency (SHOX-D) is a genetic cause of disharmonic short stature. However, the different impact on phenotype can show differences between patients with the same genotype. GH ameliorates final height, with significant differences between patients for the putative role of environmental factors who can influence growth.
APLOINSUFFICIENZA DEL GENE SHOX E TRATTAMENTO CON RHGH IN ETÀ EVOLUTIVA: STUDIO MULTICENTRICO
2011
Do children and adolescents with idiopathic short stature show postural alterations? Possible influence of SHOX haploinsufficiency in a pilot study
2019
Needs in terms of quality of life (QoL), consisting of physical, emotional and social domains, represent a hot spot in idiopathic short stature (ISS). Between ISS, it is estimated that 12% can have SHOX deficiency. Furthermore, SHOX deficiency can affect posture and GH treatment ameliorate their QoL. Although scientific research has investigated many fields of the physical domain, very few studies highlighted how this pathological condition may affect posture. The aim of this study was to evaluate postural characteristics in patients with ISS.