Atypical presentation in a patient with 45,X/46,X,i (X) (q10) Isochromosome Xq in mosaic turner syndrome: a case report

Llanes, Mark Ramon Victor; Naranjo, May

doi:10.1530/endoabs.56.ep142

Cited by 2 publications

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“…This TS patients phenotypes were closely related with previously reported ones, such as 45,X/46,X,i (X) (q10) or Mosaic 45,X/46,X,i (X) (q10)/47,46,X,i (X) (q10),i (X) (q10) isochromosome Xq karyotype [14,15]. In this case, the TS patient was also diagnosed with autoimmune hypothyroidism, evidenced by lower levels of TT4 and TT3, higher levels of TSH, and higher levels of autoantibody to TPO.…”

Section: Discussionsupporting

confidence: 89%

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

Huang¹,

Pang²,

Zhao³

et al. 2020

Clinical and Experimental Obstetrics & Gynecology

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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

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Section: Discussionsupporting

confidence: 89%

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

Huang¹,

Pang²,

Zhao³

et al. 2020

Clinical and Experimental Obstetrics & Gynecology

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“…In recent years, cases of central precocious puberty in patients with TS have also been reported. [16][17][18] The specific mechanism remains unknown, but it may involve an abnormality of the hypothalamic feedback system as well as the compensatory gonadotropin and increased FSH in patients with remaining ovarian function. 19 The United States Food and Drug Administration approved the use of rhGH in 2003 to improve adult height of patients with TS.…”

Section: Case Reportmentioning

confidence: 99%

Turner syndrome with rapidly progressive puberty: a case report and literature review

Yuan

Zhu

2020

J Int Med Res

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This report describes a clinically rare and atypical case of 46,X,idic(X)(q21.32)/45,X-type Turner syndrome with rapidly progressive puberty development. After 11 months of treatment with recombinant human growth hormone (rhGH), the child’s height increased. After 18 months of treatment with rhGH, the child showed secondary sex characteristics. The child was followed up for 1 year after the appearance of the secondary sex characteristics, and regular menses were still present. This case indicates that modern molecular biology techniques should be used rationally to further investigate the existence of X-chromosome translocations and occult chimeras to prevent misdiagnosis.

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Atypical presentation in a patient with 45,X/46,X,i (X) (q10) Isochromosome Xq in mosaic turner syndrome: a case report

Cited by 2 publications

References 0 publications

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

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

Turner syndrome with rapidly progressive puberty: a case report and literature review

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