Özet:

Background: Turner syndrome is characterized by abnormality of one X chromosome. Those with Turner syndrome are at risk of developing tuberculosis infection due to decreased immune function. Case: A 17-year-old girl came with complaints of short stature, amenorrhea, and no signs of secondary sexual growth. She also felt weak. On physical examinations, she weighed 24 kg, and her height was 119 cm. Her conjunctiva looked pale. She had a low set hairline, small mandible, short 4th metacarpal, and wide-spaced nipple. Her breast and genitalia did not grow (1st stage of Tanner classification). There was a lesion between her breasts. Laboratory results showed Hemoglobin 7 g/dL, MCV 62,6 fL, MCH 18,2 pg, MCHC 29 g/L, FSH >170 IU/L, LH 95,3 IU/L, Estradiol 11 pg/mL, Iron Ferrozine 7 mg/dL, TIBC 186 μg/dL, and Ferritin 50 ng/mL. Her Mantoux test showed induration with a diameter of 20-23 mm, and the Xpert MTB-RIF test showed low detection of MTB. Her bone age was appropriate for a 13-year-old girl. Histopathology test of her lesion showed chronic granulomatous inflammation. Her chromosome analysis showed Mos 45,X(56)/46,XX(44). She was diagnosed with Turner syndrome and tuberculosis. She received Progynova® 2 mg every 24 hours for 21 days, stopped for 10 days, and continued again for 21 days. She also got anti-tuberculosis drugs (pediatric regime). Conclusion: The clinical spectrums of Turner syndrome vary widely. Decreased immune function in Turner syndrome can lead to infections such as tuberculosis. Early diagnosis and treatment can prevent further morbidity.

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