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...
Main Authors: | , , , |
---|---|
Format: | Article |
Language: | English |
Published: |
Tehran University of Medical Sciences
2017-12-01
|
Series: | Acta Medica Iranica |
Subjects: | |
Online Access: | https://acta.tums.ac.ir/index.php/acta/article/view/6714 |
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 |