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Table 1 Clinical, laboratory, and radiologic data for subgroup A: hypergonadotropic hypogonadal male patients with and without rheumatic/autoimmune disease (RAD)

From: High frequency of association of rheumatic/autoimmune diseases and untreated male hypogonadism with severe testicular dysfunction

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

  1. ANA = antinuclear antibodies; APLS = antiphospholipid syndrome; AS = ankylosing spondylitis; B27 = histocompatibility antigen B27; ESR = erythrocyte sedimentation rate; GMN = glomerulonephritis; JRA = juvenile rheumatoid arthritis; LE = lupus erythematosus; SLE = systemic lupus erythematosus. aNormal values: anti-DNA, <20 IU/dl; ESR, <15 mm/h; Schober's test, >5 cm. bWorld Health Organization [40].