Search results for "Pseudoautosomal region"

showing 2 items of 2 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…

MaleLanger-Giedion SyndromeEndocrinology Diabetes and MetabolismSHOX deficiencyPseudoautosomal regionMadelung deformityLer Weill syndromelaw.inventionEndocrinologySettore MED/38 - Pediatria Generale E SpecialisticaShort Stature Homeobox ProteinGH treatmentShort Stature Homeobox ProteinlawSHOX DeficiencyChildGrowth DisordersHuman Growth HormoneGrowth hormone secretionRecombinant ProteinsGHRecombinant Human GHChild PreschoolRecombinant DNAFemalemedicine.symptomSHOX Deficiencymedicine.medical_specialtyAdolescentNoseOsteochondrodysplasiasShort statureFingersInternal medicinemedicineHumansLéri–Weill dyschondrosteosisGeneLeri-Weill dyschondrosteosiHomeodomain Proteinsbusiness.industrymedicine.diseaseBody HeightSHOX Deficiency; Ler Weill syndrome; Recombinant Human GHShort statureEndocrinologyGrowth HormonePediatrics Perinatology and Child HealthbusinessHair DiseasesSHOX
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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…

Pseudoautosomal regionChromosomal translocationY chromosomeShort statureChromosome translocation03 medical and health sciences0302 clinical medicine030225 pediatricsTurner syndromemedicineTreatment adherence030212 general & internal medicineLetter to the EditorGrowth hormoneX chromosomemedicine.diagnostic_testbusiness.industrylcsh:RJ1-570lcsh:PediatricsKaryotypemedicine.diseaseMolecular biologySHOX haploinsufficiencymedicine.symptombusinessFluorescence in situ hybridization
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