Dr. Abdalrazzaq Alyassein*, Dr. Ibrahim Sawalha, Dr. Nasser Eyadeh Bani Khaled, Dr. Hadeel Alqurine, Dr. Fadi Farhan ayyash


Background: Turner syndrome (TS) is defined as a multisystem chromosomopathy syndrome, affecting approximately 1 in every 2000 liveā€‘born females. Many patients can present without the other classic dysmorphic features of the syndrome including edema of extremities, cardiac anomalies, nuchal folds, and small mandible. So our object in this retrospective study is to clarify the clinical feature of Turner syndrome and focus on short stature as the only marker to do karyotype in the female patient. Methods: This study was conducted at the endocrinology clinic from 2016 to 2021. Thirteen female patients were evaluated for short stature in the endocrine clinic. All patients underwent complete blood account, kidney and liver function test, bone age by left wrist x-ray, thyroid function test, celiac disease, insulin-like growth factor-1, and karyotype. Results: Thirteen female patients evaluated for short stature were ascertained with a final diagnosis of turner syndrome. The age of the patient range from 8 to 13 years. Six girls (46.2%) were diagnosed with classical monosomy 45, X, and seven girls (53.8) with other X chromosome abnormalities. Five girls (38.5%) were started on hormonal replacement therapy. Conclusion: Many female patients with TS may live with silent syndrome until the parents notice here child is short stature or they complained of primary amenorrhea. So the turner syndrome may be asymptomatic but they will develop short stature approximately 100% for this reason any female patient with short stature should do karyotype to exclude turners syndrome.

Keywords: Turner syndrome, chromosomal, short stature, karyotype, growth hormone treatment, hormone replacement therapy.

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