Patient | Age | Endocrine and | Ā | Ā | Ā | Ā |
---|---|---|---|---|---|---|
no. | (years) | genetic diagnosis | Symptoms and disease duration | Laboratory findingsa | X-rays | RAD |
1 | 33 | Klinefelter's syndrome; | Mucocutaneous rash with | ANA +; anti-DNA, 100 IU/dl; | Normal | SLE |
Ā | Ā | 47,XXY | Raynaud's phenomenon; 2 years | LE cells +; ESR, 25 mm/h; | Ā | Ā |
Ā | Ā | Ā | Ā | B27 (-); GMN, IIB WHOb | Ā | Ā |
2 | 18 | Klinefelter's syndrome; | Multiple venous thrombosis, | ANA +; anti-Ro +; La +; | Normal | SLE |
Ā | Ā | 47,XXY | mucocutaneous rash, symmetrical | anti-DNA, 30 IU/dl; ESR, 32 mm/h; | Ā | and |
Ā | Ā | Ā | polyarthritis; 6 weeks | B27 (-); skin biopsy compatible with | Ā | APLS |
Ā | Ā | Ā | Ā | SLE; serum antiphospholipid + IgG | Ā | Ā |
3 | 20 | Klinefelter's syndrome; | Lumbar pain, morning stiffness, | ESR, 5 mm/h; B27 (+) | Ankylosis | AS |
Ā | Ā | 47,XXY/sexual | Achilles tendinitis; 6 months; | Ā | of sacroiliac | Ā |
Ā | Ā | chromatin X(90%) | Schober's test, 4 cma | Ā | joints | Ā |
4 | 20 | Testicular damage with | Symmetrical arthritis of knees; | ESR, 51 mm/h; LE cells +; | Normal | JRA |
Ā | Ā | hyperprolactinemia; 46,XY | 15 years; Schober's test, 6 cma | B27 (-); synovial biopsy; | Ā | Ā |
Ā | Ā | Ā | Ā | rheumatoid arthritis | Ā | Ā |
5 | 44 | Bilateral orchidectomy | Chronic lumbar and hip pain, knee | ESR, 50 mm/h; B27 (+) | Bilateral | AS |
Ā | Ā | due to carcinoma of testicle; | arthritis, acute intermittent uveitis, | Ā | sacroiliitis | Ā |
Ā | Ā | 47,XY | Achilles tendinitis; 6 years; | Ā | Ā | Ā |
Ā | Ā | Ā | Schober's test, 4 cma | Ā | Ā | Ā |
6 | 32 | Klinefelter's syndrome; | Asymptomatic | ESR, 10 mm/h; B27 (-) | Normal | None |
Ā | Ā | 47,XXY(68%)/46,XY(32%) | Ā | Ā | Ā | Ā |
7 | 21 | Gonadal dysgenesis with | Asymptomatic | ESR, 15 mm/h; B27 (-) | Normal | None |
Ā | Ā | mosaicism; 45,X/47,XYY | Ā | Ā | Ā | Ā |
8 | 17 | Bilateral cryptorchidism, | Asymptomatic | ESR, 15 mm/h; B27 (-) | Normal | None |
Ā | Ā | orchidectomy; 46,XY | Ā | Ā | Ā | Ā |
9 | 31 | True hermaphrodite; 46,XY | Asymptomatic | ESR, 41 mm/h; B27 (-) | Normal | None |