A Case With Short Stature, Growth Hormone Deficiency and 46, XX, Xq27-qter Deletion

A Case With Short Stature, Growth Hormone Deficiency and 46, XX, Xq27-qter Deletion

We report a case of 11-year-old girl with growth retardation and 46, XX, Xq27-qter deletion. The endocrinologic evaluation revealed growth hormone deficiency. In karyotype analysis  46, XX, Xq27-qter deletion was determined. The deletion of terminal region of chromosome 27 is most commonly being de...

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Bibliographic Details
Main Authors: Şule Yıldırım, Naci Topaloğlu, Mustafa Tekin, Fatma Sılan
Format: Article
Language:English
Published: Tehran University of Medical Sciences 2017-12-01
Series:Acta Medica Iranica
Subjects:
Short stature
Growth hormone deficiency
X chromosome
Deletion
Gene
Online Access:https://acta.tums.ac.ir/index.php/acta/article/view/6714
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spelling doaj-7e9f71b8ab5f4f9cadf9d7fef9d561172020-11-25T03:42:50ZengTehran University of Medical SciencesActa Medica Iranica0044-60251735-96942017-12-0155105221A Case With Short Stature, Growth Hormone Deficiency and 46, XX, Xq27-qter DeletionŞule Yıldırım0Naci Topaloğlu1Mustafa Tekin2Fatma Sılan3Department of Pediatrics, School of Medicine, Çanakkale Onsekiz Mart University, Çanakkale, Turkey.Department of Pediatrics, School of Medicine, Çanakkale Onsekiz Mart University, Çanakkale, Turkey.Department of Pediatrics, School of Medicine, Çanakkale Onsekiz Mart University, Çanakkale, Turkey.Department of Medical Genetics, School of Medicine, Çanakkale Onsekiz Mart University, Çanakkale, Turkey. We report a case of 11-year-old girl with growth retardation and 46, XX, Xq27-qter deletion. The endocrinologic evaluation revealed growth hormone deficiency. In karyotype analysis  46, XX, Xq27-qter deletion was determined. The deletion of terminal region of chromosome 27 is most commonly being detected during the evaluation of infertility, premature ovarian insufficiency or in screening for fragile X carrier status. To our knowledge, this is the first reported case with 46, XX, Xq27-qter deletion and growth hormone deficiency. Furthermore, this case might facilitate future search for candidate genes involved in growth hormone deficiency. https://acta.tums.ac.ir/index.php/acta/article/view/6714Short statureGrowth hormone deficiencyX chromosomeDeletionGene
collection DOAJ
language English
format Article
sources DOAJ
author Şule Yıldırım
Naci Topaloğlu
Mustafa Tekin
Fatma Sılan
spellingShingle Şule Yıldırım
Naci Topaloğlu
Mustafa Tekin
Fatma Sılan
A Case With Short Stature, Growth Hormone Deficiency and 46, XX, Xq27-qter Deletion
Acta Medica Iranica
Short stature
Growth hormone deficiency
X chromosome
Deletion
Gene
author_facet Şule Yıldırım
Naci Topaloğlu
Mustafa Tekin
Fatma Sılan
author_sort Şule Yıldırım
title A Case With Short Stature, Growth Hormone Deficiency and 46, XX, Xq27-qter Deletion
title_short A Case With Short Stature, Growth Hormone Deficiency and 46, XX, Xq27-qter Deletion
title_full A Case With Short Stature, Growth Hormone Deficiency and 46, XX, Xq27-qter Deletion
title_fullStr A Case With Short Stature, Growth Hormone Deficiency and 46, XX, Xq27-qter Deletion
title_full_unstemmed A Case With Short Stature, Growth Hormone Deficiency and 46, XX, Xq27-qter Deletion
title_sort case with short stature, growth hormone deficiency and 46, xx, xq27-qter deletion
publisher Tehran University of Medical Sciences
series Acta Medica Iranica
issn 0044-6025
1735-9694
publishDate 2017-12-01
description We report a case of 11-year-old girl with growth retardation and 46, XX, Xq27-qter deletion. The endocrinologic evaluation revealed growth hormone deficiency. In karyotype analysis  46, XX, Xq27-qter deletion was determined. The deletion of terminal region of chromosome 27 is most commonly being detected during the evaluation of infertility, premature ovarian insufficiency or in screening for fragile X carrier status. To our knowledge, this is the first reported case with 46, XX, Xq27-qter deletion and growth hormone deficiency. Furthermore, this case might facilitate future search for candidate genes involved in growth hormone deficiency.
topic Short stature
Growth hormone deficiency
X chromosome
Deletion
Gene
url https://acta.tums.ac.ir/index.php/acta/article/view/6714
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