A rare of Turner syndrome with a special karyotype: a case report

Abstract

The patient was hospitalized due to infertility, She was 30years-old, with a stature of 152 cm. Her intelligence quotient (IQ) was below average, and she had not experienced menarche so far. Through transvaginal ultrasonography, her uterus was visualized 3.8×3.5×2.5 cm 3 , and bilateral ovaries (left: 1.7×1.4 cm 2 and right: 1.6×1.1 cm 2 ). These results showed that the dimensions of two ovaries were under normal size. The sex hormone levels were detected via peripheral blood, with results of follicle stimulating hormone (FSH) 35.68 mIU/ml (normal range: 1.79-22.51), luteinizing hormone (LH) 15.78 mIU/ml (normal range:1.2-12.86), progesterone (P) 0.28 ng/ml (normal range:0.31-18.56), Luteinizing hormone releasing hormone (LHRH) stimulation testing showed abnormal gonadotropic hormones, and the levels of FSH and LH levels were high at different time points of baseline (0.5, 1, 2, and 3-hour post-stimulation) (Table 1). Serum insulin (12.65 IU/mL) levels were within normal range. In addition, her total thyroxine (TT4: 79.76 nmol/L) and total triiodothyronine (TT3: 1.34 ng/mL) were normal, while thyroid-stimulating hormone (TSH: 11.41 uIU/mL) was higher along with high levels of anti-thyroglobulin antibodies (TGAb: 954.3 IU/mL) and autoantibody to thyroid per-oxidase (TPOAb: 566.5 IU/mL) (Table 2). The total cholesterol level (6.34 mmol/L) and serum LDL-cholesterol (4.25 mmol/L) were also higher than normal range. Karyotyping was performed following peripheral blood lymphocyte culture. A total of 100~200 metaphase cells were analyzed by the Gbanding method. Chromosomal analysis revealed that the mosaic status for the isochromosome formation in the long arm of X, i(Xq). Her karyotype is mosaic 45,X[3]/46,X,i(X)(q10)[79]/47,X,i(X) (q10),i(X)(q10)[3]/49,X,i(X)(q10),i(X)(q10), i(X)(q10), i(X) (q10) [79] (Figure 1). This is consistent with a rare Isochromosome Xq Mosaic TS with four karyotypes. Highthroughput sequencing indicated an abnormal female karyotype. It showed that a 45.28Mb deletion in Xp22. and a 92.36Mb