Table 1.
The Comparison of Previously Reported Cases of Klinefelter Syndrome With MCTD and Our Case with 47,XXY/46,XX/47 XY
| Case 1 | Case 2 | Case 3 | Our Case | |
|---|---|---|---|---|
| Author | Ishihara et al. | Takeuchi et al. | Kasten et al. | Kalayci Yigin et al. |
| Year | 1994 | 1999 | 2005 | 2020 |
| Ethnicity | Asian (Japanese) | Asian (Japanese) | Caucasian | Caucasian |
| Karyotype | 47, XXY | 47, XXY | 47, XXY | 47,XXY/46,XX/47 XY |
| Overlapping connective tissue disorder | Sjogren’s syndrome | Sjogren’s syndrome | Sjogren’s syndrome | Sjogren’s syndrome |
| Age at the onset of MCTD | 28 | 58 | 43 | 25 |
| Clinical characteristics | ||||
| Height | 162 cm | 162 cm | 190 cm | 172 cm |
| Weight | N/A | 53 kg | 80 kg | 76 kg |
| Gynecomastia | + | + | + | + |
| Raynaud’s phenomenon | + | + | + | + |
| Joint abnormalities | + | + | + | + |
| Pulmonary system abnormalities | + | + | + | + |
| Intellectual level | Normal | Normal | Normal | Normal |
| Hematological abnormalities | + | Mild anemia | Mild anemia | Mild anemia |
| Thrombophilic event | ||||
| FV Leiden | N/A | N/A | – | Heterozygote |
| MTHFR C677T | N/A | N/A | – | Heterozygote |
| MTHFR A1298C | N/A | N/A | – | Heterozygote |
| Factor XIII | N/A | N/A | – | Heterozygote |
| Ovotesticular dysfunction | N/A | N/A | N/A | Yes |
| Serological findings | ||||
| Rheumatoid factor | – | 5 IU/mL | 70 IU/mL | 54.5 IU/mL Cut off index 14 < |
| Antinuclear antibody | +1:2560 homogeneous speckled | +homogeneous speckled | 1/5,120 | (+) |
| Anti-RNP | Anti-RNP (+) |
Anti-RNP (+) |
Anti U1-RNP (+) | Anti U1-RNP (+) |
| Anti-Sm | (−) | (−) | (−) | 1.7 U/mL a |
| Anti-dsDNA(IgG) | (+) | (−) | (−) | 5.28 IU/mL a |
| Anti-SSA | 1:64 | (−) | (−) | 4.43 IU/mL a |
| Anti-SSB | 1:1 | (−) | (−) | 1.19 IU/mL a |
| Ant-CCP | N/A | N/A | N/A | 5.28 IU/mL a |
| Anti-Jo1 | N/A | N/A | N/A | 3.26 IU/mL a |
| Antiphospholipid IgG | N/A | N/A | N/A | 3.09 IU/mL a |
| Antiphospholipid IgM | N/A | N/A | N/A | 0.5 IU/mL a |
| Laboratory analysis | ||||
| AZFa,b,c deletion | N/A | N/A | N/A | (−) |
| Total protein | 9.4 g/dL | 7.5 g/dL | N/A | 5.8 g/dL |
| Albumin | 2.8 g/dL | 4.4 g/dL | N/A | 3.45 g/dL |
| Globin | 6.6 g/dL | N/A | N/A | NA |
| Hormonal status | ||||
| FSH | 28.9 mIU/mL (2.9–8.2) |
91.9 mIU/mL (2.9–8.2) |
20.6 mIU/mL (1.0–8.0) |
21.21 mIU/mL (1.6–12.4) |
| LH | 13.5 mIU/mL (1.8–5.2) |
42.1 mIU/mL (1.8–5.2) | 23.8 mIU/mL (2.0–12.0) |
33.34 mIU/mL (0.8–6) |
| Total testosterone | 3.1 ng/mL (3.8–9.9) |
14.5 ng/mL (25–110) |
2.0 ng/mL (2.8–8.0) |
53.25 ng/dL (55–248) |
| Estradiol | <20 pg/mL | N/A | N/A | (?) |
| GH | N/A | 2.22 ng/mL (<0.42) |
N/A | 0.637 ng/mL (0.03–2.47) |
| Somatomedin-C | N/A | N/A | N/A | 45.91 ng/mL (55–248) |
| PRL | N/A | 24.6 ng/mL (1.7–10) |
N/A | 24 ng/mL (4.1–15.2) |
| DHEA-SO4 | 344 ng/mL (400–3,500) |
296 ng/mL (400–3,500) |
||
Note. MCTD = mixed connective tissue disorder; FSH = follicle-stimulating hormone; LH: luteinizing hormone; GH: growth hormone; PRL: prolactine; DHEA-SO4: dehydroepiandrosterone sulfate.
a
Negative <12 IU/mL, borderline 12 to 18 IU/mL, positive >18 IU/mL.