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
Description
Summary: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.
ISSN:0044-6025
1735-9694

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