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

  • Şule Yıldırım Mail Department of Pediatrics, School of Medicine, Çanakkale Onsekiz Mart University, Çanakkale, Turkey.
  • Naci Topaloğlu Department of Pediatrics, School of Medicine, Çanakkale Onsekiz Mart University, Çanakkale, Turkey.
  • Mustafa Tekin Department of Pediatrics, School of Medicine, Çanakkale Onsekiz Mart University, Çanakkale, Turkey.
  • Fatma Sılan Department of Medical Genetics, School of Medicine, Çanakkale Onsekiz Mart University, Çanakkale, Turkey.
Keywords:
Short stature, Growth hormone deficiency, X chromosome, Deletion, Gene

Abstract

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.

References

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Published
2017-12-02
How to Cite
1.
Yıldırım Şule, Topaloğlu N, Tekin M, Sılan F. A Case With Short Stature, Growth Hormone Deficiency and 46, XX, Xq27-qter Deletion. Acta Med Iran. 55(10):661-663.
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Case Report(s)