Acta Medica Iranica 2017. 55(10):661-663.

A Case With Short Stature, Growth Hormone Deficiency and 46, XX, Xq27-qter Deletion
Şule Yıldırım, Naci Topaloğlu, Mustafa Tekin, Fatma Sılan

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.


Keywords


Short stature; Growth hormone deficiency; X chromosome; Deletion; Gene

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