| A Case of Short Stature with 46, XXp+(Xqter-->Xp22::Xp22-->Xqter). |
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Hyo Jung Kim, Jeh Hoon Shin |
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| Abstract |
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We experienced a case of Turner variant in 17 year old girl.
She showed normal appearance except short stature. The patient was born at term with a birth weight of 2200g and her height was below the 3 percentile at admission.
Thelarche appeared at the age of 13 years. FSH and LH levels were elevated, estradiol was within normal range, but progesterone level was decreased, bone age was 14 to 15 year old, and the small sized uterus was detected by abdominal ultrasonogram. Karyotype analysis revealed 46,XXp+(Xqter-->Xp22::Xp22-->Xqter). Her height didn't grow properly despite serial growth hormone therapy, because her epiphyseal growth plate was nearly closed. |
| Keywords:
Turner syndrome;Turner variants;Short stature |
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