Turner syndrome(TS) is a chromosomal disorder which occurs in 1/2500 - 1/3000 among female live births, characterized by short stature, pubertal failure and cardiac defects. Mosaicism of 45X/47XXX is extremely rare and accounts for 1.7% of the TS cases. TS with 45X/47XXX is more likely to have spontaneous puberty. The case we present herein is a 13-years old girl who was admitted to Chuncheon sacred heart hospital due to severe anemia. She was diagnosed with Turner syndrome with karyotype of 45X/47XXX at 4 years of age. She had no dysmorphic trait exception for short stature and no cardiac problems. She had spontaneous menarche at the age of twelve and menometrorrhagia. In the laboratory analyses, severe iron deficiency anemia (hemoglobin, 4.6g/dL; MCV, 56.2fL; iron, 8ug/dL; Transferrin saturation, 1.6%; ferritin, 2.2 ng/ml) was found. Pelvic ultrasound examination revealed normal ovaries and uterus. She transfused packed RBC 500ml and started to take iron supplement. After 3months, hemoglobin and ferritin level were normalized. In patients with 45X/47XXX, attention should be paid not only to the pubertal progression but also to the mensturation related problems, which improve the quality of life and could prevent future problems that may arise during adolescent.
19 - 21 Sep 2019
European Society for Paediatric Endocrinology