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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Tehran University of Medical Sciences
2017-12-01
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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.
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topic |
Short stature Growth hormone deficiency X chromosome Deletion Gene |
url |
https://acta.tums.ac.ir/index.php/acta/article/view/6714 |
work_keys_str_mv |
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