Patient | Age | Endocrine and | Ā | Ā | Ā | Ā |
---|---|---|---|---|---|---|
no. | (years) | genetic diagnosis | Symptoms and disease duration | Laboratory findingsa | X-rays | RAD |
1 | 23 | Kallmann's syndrome; | Intermittent lumbar and hip pain, | ESR, 3 mm/h; B27 (+) | Bilateral | AS |
Ā | Ā | 46,XY | symmetrical ankle arthritis; 10 years; | Ā | sacroiliitis | Ā |
Ā | Ā | Ā | Schober's test, 4.5 cma | Ā | Ā | Ā |
2 | 34 | Kallmann's syndrome; | Intermittent lumbar pain and morning | ESR, 7 mm/h; B27 (+) | Ankylosis of | AS |
Ā | Ā | 46,XY | stiffness; 10 years; Schober's test, 4.5 cma | Ā | sacroiliac joints | Ā |
3 | 17 | Idiopathic hypogonado- | Photosensitive skin heliotrope rash, | ESR, 53 mm/h; CK, 182 U/ml; | Muscle | JDM |
Ā | Ā | tropic MPHG; 46,XY; | alopecia, proximal muscle weakness with | C3, 115 mg/dl; C4, 76 mg/dl; | calcinosis | Ā |
Ā | Ā | bilateral cryptorchidism | atrophy, Gottron's papules; 11 years; | ANA + speckled pattern; | Ā | Ā |
Ā | Ā | Ā | arthritis of MCP and PIP joints | anti-DNA, 26 IU/ml; | Ā | Ā |
Ā | Ā | Ā | Ā | B27 (-); muscle biopsy: myositis | Ā | Ā |
4 | 20 | Idiopathic hypogonado- | Asymptomatic | ESR, 16 mm/h; B27 (-) | Normal | None |
Ā | Ā | tropic MPHG with hyper- | Ā | Ā | Ā | Ā |
Ā | Ā | prolactinemia; 46,XY; | Ā | Ā | Ā | Ā |
Ā | Ā | bilateral cryptorchidism; | Ā | Ā | Ā | Ā |
Ā | Ā | bilateral orchidectomy | Ā | Ā | Ā | Ā |