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Clinical and Experimental Obstetrics & Gynecology  2020, Vol. 47 Issue (1): 129-131    DOI: 10.31083/j.ceog.2020.01.4982
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A rare of Turner syndrome with a special karyotype: a case report
W.D. Huang1, *(), M. Pang1, Q.Z. Zhao1, X.P. Wang2, J. Wang3, Y. Mao3, L.Y. Kong3, B. Liang3
1Reproductive Medicine Center, XinJiang JiaYin Hospital, Urumchi, China
2State Key Laboratory for Conservation and Utilization of Bio-resource in Yunnan, Yunnan University, Kunming, China
3Basecare Medical Device Co., Ltd., Suzhou, China
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Turner syndrome (TS) is a gonadal dysgenesis caused by absence or structural abnormalities of sex chromosome. Isochromosome Mosaic TS is a structurally abnormal X chromosome consisting of either two short or two long arms, with only an 8-9% prevalence among women with TS based on international studies. The present report describes a 30-year-old female with isochromosome mosaic karyotype TS. The patient had no menarche so far. G-banding chromosome analysis indicated mosaic 45, X[3]/46, X, i(X) (q10)[79]/47, X, i(X)(q10), i(X)(q10), i(X)(q10)[3]/49, X, i(X)(q10), i(X)(q10), i(X)(q10), i(X)(q10)[79]. Both clinical and cytogenetic investigations proved this patient to be a special isochromosome Xq Mosaic TS with autoimmune hypothyroidism and hyperlipidemia.

Key words:  Primary amenorrhea      Turner Syndrome      Karyotype      Mosaic Isochromosome Xq      Autoimmune hypothyroidism     
Published:  15 February 2020     
*Corresponding Author(s):  W.D. Huang     E-mail:

Cite this article: 

W.D. Huang, M. Pang, Q.Z. Zhao, X.P. Wang, J. Wang, Y. Mao, L.Y. Kong, B. Liang. A rare of Turner syndrome with a special karyotype: a case report. Clinical and Experimental Obstetrics & Gynecology, 2020, 47(1): 129-131.

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Table 1  — Results of LHRH stimulation test.
Hormone 0.5 hour 1 hour 2 hours 3 hours
FSH (mIU/ml) 49.67 57.47 52.93 46.88↑
LH (mIU/ml) 47.79 44.98 33.76 26.36↑
Figure 1.  — Results of routine karyotyping. (a) Routine karyotyping 45, X. (b) Routine karyotyping 46, X, i(Y)(q10). (c) Routine karyotyping 47, X, i(X)(q10)×2. (d) Routine karyotyping 49, X, i(X)(q10)×4. The abnormal chromosomes locations are indicated by arrows. Scale bars = 100 μm.

Table 2  — Results of thyroid data and blood lipids test.
Test item Numerical value Reference range
Total thyroxine (T4)(nmol/L) 79.76 66-181
Total triiodothyronine (T3)(ng/mL) 1.34 0.8-2.0
Serum free thyroxine (FT4)(ng/dL) 0.96 0.93-1.7
Serum free triiodothyronine (FT3)(pg/mL) 3.27 2.0-4.4
Serum thyroid-stimulating hormone (TSH)(uIU/mL) 11.41↑ 0.27-4.2
Anti-thyroglobulin antibodies(TG-Ab)(IU/mL) 954.3↑ <115
Anti-thyroid peroxidase antibody (TPO-Ab)(IU/mL) 566.5↑ <34
Serum total cholesterol (mmol/L) 6.34↑ 0-5.17
Serum triglycerides (mmol/L) 1.6 0-2.3
Serum HDL-cholesterol (mmol/L) 1.43 1.29-1.55
Serum LDL-cholesterol (mmol/L) 4.25↑ 0-3.37
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