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Klinefelter Syndrome


Klinefelter Syndrome

This condition was first identified by Dr. Harry Klinefelter at the Massachusetts General Hospital in Boston.  A report published he and his coworkers reported case studies on nine men who had enlarged breasts, sparse facial and body hair and an inability to produce sperm.

Now more appropriately referred to as XXY Male of XXY Male Syndrome, males born with this condition have an extra sex chromosome XXY instead of the usual  genotype XY.  It is associated with a 47XXY karyotype and statistically occurs in 1/500 newborns.

Clinical features

 Klinefelter is occasionally associated with lymphatic blockage or fetal hydrops and thus is included in a discussion of developmental disorders of the lymphatics.

Original symptoms included tall stature, long upper extremities, poor pubertal development, microorchidism, enlarged breasts, sparce facial and body hair, small testes and subsequent sterility.

Recent studies have expanded the original symptoms to include infertility, incomplete masculinization; feminine, or pear shaped, body and body hair distribution, decreased libido,  osteoporosis,  taurodontism, venous disease (which may include mitral valve prolapse, varicose veins and venous ulcers),  learning and emotional disorders, autoimmune disorders,  low energy and self esteem,  communication difficulties, especially with expressive language, frustration-based outbursts, motor skills issue and developmental delays.  Also, there is a 20 times increased risk for XXY males to develop breast cancer than non XXY males.


For proper care and treatment early diagnosis is important. The treatment includes hormone therapy such as testosterone replacement. Other treatment aspects should include the psychosocial and emotional problems, needed treatment for physiological side affects and later on even genetic counseling.


Klinefelter Syndrome

Author: Harold Chen, MD, MS, FAAP, FACMG, Chief, Professor, Department of Pediatrics, Section of Perinatal Genetics, Louisiana State University Medical Center


Klinefelter Syndrome?

Or is he XXY? There IS a difference!

A Parent's View


Klinefelter's Syndrome

Med Line Plus  


Klinefelter's syndrome presenting with leg ulcers.

De Morentin HM, Dodiuk-Gad RP, Brenner S.

Department of Dermatology, Tel Aviv Sourasky Medical Center, 6 Weizmann Street, Tel Aviv 64239 Israel.

A 54-year-old man of Persian origin presented to our department with a 1-year history of ulcers on the right leg that had been unresponsive to numerous topical treatments, accompanied by lymphedema of the right leg. Medical history included hypergonadotropic hypogonadism, which had not been further investigated. He was treated for 20 years with testosterone IM once monthly, which he stopped a year before the current hospitalization for unclear reasons. The patient reported no congenital lymphedema. Physical examination revealed two deep skin ulcers (Figure 1) on the right leg measuring 10 cm in diameter with raised irregular inflammatory borders and a boggy, necrotic base discharging a purulent hemorrhagic exudate. Bilateral leg pitting edema and right lymphangitis with lymphadenitis were noted. He had low head hair implantment, sparse hair on the body and head, hyperpigmentation on both legs, onychodystrophia of the toenails (mainly the large toe and less prominent on the other toes), which was atrophic lichen-planus-like in appearance and needed no trimming (Figure 2), normal hand nails, oral thrush, and angular cheilitis. Other physical findings were gynecomastia, pectus excavatum, small and firm testicles, long extremities, asymmetrical goiter, systolic murmur 2/6 in left sternal border, and slow and inappropriate behavior. The patient's temperature on admission was 39 degrees C. Blood cultures were negative for bacterial growth. Results of laboratory investigations included hemoglobin (11.2 g/dL), hematocrit (26.8%), normal mean corpuscular volume and mean corpuscular hemoglobin volume, and red blood cell distribution width (16%). Blood smear showed spherocytes, slight hypochromia, anisocytosis, macrocytosis, and microcytosis. Blood chemistry values were taken for iron (4 micro g/dL [normal range 40-150 micro g/dL]), transferrin (193 mg/dL [normal range 220-400 mg/dL]), ferritin (1128 ng/mL [normal range 14-160 ng/mL]), transferrin saturation (1.5% [normal range 20%-55%]), serum folate (within normal limits), and vitamin B12 (within normal limits). Direct Coombs' test equaled positive 2 + IgG. All these values indicated anemia of chronic diseases combined with hemolytic anemia. Further blood work-up tested antinuclear antibody (positive <1:80 homogeneous pattern), rheumatoid factors (143 IU/mL [positive >8.5 IU/mL]), C-reactive protein (286 mg/L [normal range 0-5 mg/L]), anticardiolipin IgM antibody (9.0 monophosphoryl lipid U/mL [normal range 0-7.00 MPL U/mL]) and antithrombin III activity (135% [normal range 74%-114%]). Results of other blood tests were within normal limits or negative, including lupus anticoagulant, beta2 glycoprotein, anticardiolipin IgG Ab, anti-ss DNA Ab, C3, C4, anti-RO, anti-LA, anti-SC-70, anti-SM Ab, P-ANCA, C-ANCA, TSH, FT4, anti-T microsomal, antithyroglobulin, protein C activity, protein S free, cryoglobulins, serum immunoelectrophoresis, VDRL, hepatitis C antibodies, hepatitis B antigen, and human immunodeficiency virus. Endocrinological work-up examined luteinizing hormone (22.9 mIU/mL [normal range for adult men 0.8-6 mIU/mL]), follicle stimulating hormone (49.7 mIU/mL [normal range for adult men 1-11 mIU/mL]), testosterone (0.24 ng/mL [normal range for adult men 2.5-8.0 ng/mL]), bioavailable testosterone (0.02 ng/mL [normal range for adult men >0.6 ng/mL]), and percent bioavailable test (8.1% [normal value >20%]). These results indicate hypergonadotropic hypogonadism. Plasminogen activator inhibitor 1 was 6 U (normal value 5-20 U/mL). Karyotyping performed by G-banding technique revealed a 47 XXY karyotype, which is diagnostic of Klinefelter's syndrome. Doppler ultrasound of the leg ulcers disclosed partial thrombus in the distal right femoral vein. X-rays and bone scan displayed osteomyelitis along the right tibia. Histological examination of a 4-mm punch biopsy from the ulcer border revealed hyperkeratosis, acanthosis, hypergranulosis, and mixed inflammatory infiltrate containing eosinophils compatible with chronic ulcer. Multiple vessels were seen, compatible with a healing process. Direct immunofluorescence of the biopsy revealed granular IgM in the dermo-epidermal junction. Indirect immunofluorescence was negative. Thyroid function tests showed normal thyroid stimulating hormone and free throxine4. Multinodular goiter was seen on thyroid scan and ultrasound. Thyroid fine needle aspiration was compatible with multinodular goiter (normal follicular cells, free colloid, macrophages with pigment). IV treatment with amoxicillin-clavulanic acid 1 g t.i.d. was administered for 2 weeks, with a decrease in temperature and normalization of the leukocyte level. Oral antibiotic treatment with amoxicillin-clavulanic acid was continued for 10 more days, followed by 25 days of ciprofloxacin for the osteomyelitis. Local treatment included saline soakings followed by application of Promogran (Johnson & Johnson, New Brunswick, NJ) and Kaltostat (ConvaTec Ltd., a Bristol-Myers Squibb Company, New York, NY) with slight improvement. At the same time, the patient was treated with warfarin sodium due to deep vein thrombosis under international normalized ratio 2-3. The patient was treated with IM testosterone once monthly for 1 year, which resulted in a reduction in the diameter and depth of the leg ulcers (Figure 3). Blood tests were not performed for follow-up of the immune state.

PMID: 15365265 [PubMed - in process]



Klinefelter Syndrome & Associates, Inc.
PO Box 119
Roseville, CA 95678-0119
Phone: 916.773.1449
Fax: 916.773.1449
Web site: (Japenese version)
[Note: group name may change to X & Y Family Genetic Network and include XXX, and XXY and the multiple sex chromosome variants]
- Resources for families
- Introductory video about XXY, by mother whose son has Klinefelter Syndrome
- The Even Exchange, Newsletter
American Association for Klinefelter Syndrome Information and Support (AAKSIS)

Klinefelter Syndrome Support Group Home Page, numerous links to other organizations and resources, created by an adult with Klinefelter Syndrome, regional groups, varients, international groups

International Groups:

Australian Klinefelter Support Group
4 Victoria Rd
Acquire Fields NEW 02564 AUSTRALIA
Victoria Support Group
41 Jesmond Rd
Cordon, Victoria 03136 AUSTRALIA

Klinefelter Syndrome Support Group
P.O.Box 3
Glendenning Mail Center NEW 2761 AUSTRALIA


Canada Klinefelter Support Group
Apt. 3, 2867 Young St.
Toronto, ON. Canada M4N 2J5
416. 481.3171

England (United Kingdom)

Klinefelter's Syndrome Association
56 Little Yeldham Road
Little Yeldham, Halstead, Essex CO9 4QT
Klinefelter Organisation [formerly the Klinefelter's Syndrome Club UK (KSCUK)]

Belgische vereniging voor het syndroom van Klinefelter

Sweden and Denmark

Swedish Klinefelter Association (Svenska XXY& Klinefelterföreningen)

Other information:


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