11 May 2026
: Case report 
Familial Turner Syndrome With Distinct Karyotypes in Two Cousins: Phenotypic Convergence and Genotypic Heterogeneity
Congenital defects / diseases
Weiwei Zeng ABCDEFG 1, Sheng Lin BCDE 2, Junge Zheng BCD 3, Zheng Zheng BCD 4, Cunhai Li BCF 5, Guihua Yang BCF 5, Jilong Yao AE 1, Shan Duan ACDEF 3,6*DOI: 10.12659/AJCR.951645
Am J Case Rep 2026; 27:e951645
Table 1 Key clinical data and quantitative comparison of phenotypic severity.
| Parameter | III-17 (proband) | III-13 (cousin) | Reference range | Quantitative severity comparison |
|---|---|---|---|---|
| 20 | 28 | – | – | |
| 135 | 128 | – | III-17: −4.2; III-13: −5.1* | |
| 35 | 35 | – | Both <3 percentile | |
| 18.66 | 21.99 | 2.12–10.89 | III-17: 1.7×ULN; III-13: 2.0×ULN | |
| 67.00 | 109.33 | 3.85–8.78 | III-17: 7.6×ULN; III-13: 12.5×ULN | |
| 6 | 5 | 27–122 | Both profoundly suppressed (<10 percentile) | |
| 0.83 | 0.49 | 0.31–1.52 | Both within low-normal range | |
| 7.02 | 9.83 | 3.34–26.72 | Both within normal range | |
| 0.60 | 0.18 | <0.75 | Both within normal female range | |
| Normal | 5.566 | 0.38–5.33 | III-13: borderline elevated (1.05×ULN) | |
| 736.85 | Not reported | 13–161 | III-17: 4.6×ULN (pronounced insulin resistance) | |
| Left ovary faintly visible; uterus/right ovary not visualized | Absent uterus and ovaries | – | III-17: partial gonadal dysgenesis; III-13: complete gonadal agenesis | |
| 13.5 | 14 | – | Both delayed by 6–14 years relative to chronological age | |
| SDS – standard deviation score; ULN – upper limit of normal; FSH – follicle-stimulating hormone; LH – luteinizing hormone; TSH – thyroid-stimulating hormone. * Height SDS calculated using World Health Organization growth standards for age- and sex-matched populations. | ||||