ABSTRACT

Turner syndrome (TS) is a chromosomal disorder, which mostly results from a 45 X karyotype and is characterized with short stature, gonadal dysgenesis, renal and cardiac abnormalities. A 6 years 1 month old girl was admitted to our clinic with the complaints of short stature compared to peers. On physical examination, her height was 106.4 cm (SD score -1.74) and weight was 22 kg (SD score -0.5) with breast development and pubic hair consistent with Tanner stage I. She had low nuchal hairline. Remaining systemic physical examination was normal. Laboratory evaluation revealed normal complete blood count, renal, hepatic, and thyroid function test results. Bone age was consistent with 3 years 6 month. Madelung deformity was detected in the left wrist radiography. FSH was 22.5 mIU/mL (N:2.5- 7.04), LH:<0.1 mIU/ mL (N:0.1-12), E2<20 pg/ mL. The result of karyotype analysis was reported to be 45.X0. With this report, it was aimed to emphasize importance of left wrist radiography and in necessary cases determining karyotype analysis for diagnosis of Turner syndrome