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Klinefelter syndrome

  Klinefelter syndrome (Kleinfelte’s syndrome) (47, XXY) is a common syndrome caused by chromosomal abnormalities and accompanied by various abnormal manifestations. Males have an extra female sex chromosome. They appear male, but usually have a smaller penis than average, are infertile, and the incidence of intellectual disability is increased.

 

Table of Contents

What are the causes of Klinefelter syndrome
What complications can Klinefelter syndrome easily lead to
What are the typical symptoms of Klinefelter syndrome
How to prevent Klinefelter syndrome
5. What laboratory tests are needed for Klinefelter syndrome?
6. Diet taboos for Klinefelter syndrome patients
7. Conventional methods for the treatment of Klinefelter syndrome in Western medicine

30. 1. What are the causes of Klinefelter syndrome?

  The etiology of this disease is due to the non-separation phenomenon of sex chromosomes during the meiotic division of germ cells of parents, forming sperm and ova. The older the age of the patient's mother, the higher the frequency of non-separation. In addition, certain chemical substances such as mitomycin C can cause chromosomal abnormalities; alcohol can also lead to Klinefelter syndrome in offspring.

 

27. 2. What complications are prone to Klinefelter syndrome?

  Complications of this disease:

  24. Small and hard testicles;

  23. Underdeveloped external genitalia and secondary sexual characteristics;

  22. Common gynecomastia;

  21. Excessive height and abnormal bone ratio;

  20. Hypergonadotropic hypogonadism;

  19. Serum T slightly decreased or normal;

  18. Azoospermia or oligospermia;

  17. Spermatogenic tubule hyaline degeneration;

  16. Chromosome karyotype abnormalities (such as 47, XXY).

  Leading to low libido, infertility, and so on.

3. What are the typical symptoms of Klinefelter syndrome?

  I. Typical Klinefelter syndrome

  About 80% of this disease, before puberty, due to the lack of symptoms, it is not easy to find, some people have poor academic performance, and puberty may be delayed by 1 to 2 years, and typical symptoms can be shown during development:

  10. 1. Poor development of male secondary sexual characteristics: Small and hard testicles, volume is only 1/3 of normal males or length less than 2 cm; poor development of male secondary sexual characteristics, more than half of the patients have feminization of breasts, delicate skin, a high-pitched voice like women, more overweight, no beard, sparse body hair, pubic hair distributed like women, low libido.

  9. Strangely shaped bodies: Tall stature, relatively long limbs, lower body growth rate is greater than the upper body and trunk, so the lower body is longer than the upper body.

  8. Intellectual and mental abnormalities: Some patients have mild to moderate intellectual developmental disorders, mental abnormalities, or schizophrenia tendencies.

  7. It may be accompanied by other diseases such as pulmonary diseases (emphysema, chronic bronchitis), varicose veins, diabetes, etc.

  II. Atypical Klinefelter syndrome

  Patients with Klinefelter syndrome with more than three X chromosomes have more severe symptoms than typical Klinefelter syndrome, except for small testes and poor development of male secondary sexual characteristics, they also have severe intellectual and physical disabilities.

4. How to prevent Klinefelter syndrome?

  1. Epidemiology:Approximately 1 in 1000 boys have an extra X chromosome (47, XXY), leading to Klinefelter syndrome. This chromosomal pattern can be detected in utero or in 1/10 of affected children, or in 25% of male patients, and all males with 47, XXY karyotypes are sterile. Klinefelter syndrome accounts for 3% of male infertility, and it is not uncommon for Klinefelter syndrome to be present in males with oligozoospermia or azoospermia (5% to 10%).

  2. Clinical manifestations:Due to the lack of testicular hormones, luteinizing hormone and luteinizing hormone are not suppressed directly or indirectly, and obvious Klinefelter syndrome physical features appear.

  3. Prevention:Zheng Lixin pointed out that for certain genetic diseases or reduced fertility caused by chromosomal abnormalities in number or morphological structure, the medical community has not yet found effective prevention and treatment methods, and can only avoid giving birth to disabled children through genetic counseling, reproductive guidance, and prenatal examination.

 

5. What laboratory tests are needed for Klinefelter syndrome

  1. Gonadotropin:Gonadotropin levels are normal before puberty, generally increase after 11 years old, and significantly increase after puberty.

  2. Stimulation test:Luteinizing hormone releasing hormone stimulation test is normal or active; chorionic gonadotropin stimulation test, testosterone level is lower than that of normal males.

  3. Semen examination: Without sperm or with a small amount of malformed sperm.

  4. Chromosome:Oral mucosal smear chromatin positive; peripheral blood lymphocyte karyotype abnormality.

6. Dietary taboos for Klinefelter syndrome patients

  First, diet

  1. Damp-heat downward type

  (1) 10 grams of cooked Plantago asiatica, 6 grams of Spinacia oleracea, 3 kernels of walnuts, 30 grams of Job's tears. Fry the Spinacia oleracea and walnuts, add Job's tears and cooked Plantago asiatica, and cook into porridge. Drink it when warm, one dose per day, and take it continuously for 10 to 15 days.

  (2) An appropriate amount of Sophora japonica. Take 6 to 10 grams of Sophora japonica by mouth in decoction, one dose per day.

  2. Kidney and liver Yin deficiency type

  (1) 15 grams of山药, 9 grams of Cornus officinalis, 15 grams of Schisandra chinensis, 30 grams of tortoise shell, 6 grams of Huanhua, and 60 grams of lean pork. Decoct the first five herbs, remove the residue, add lean pork, and cook until tender, then take it by mouth, one dose per day.

  (2) 15 grams of Rehmannia glutinosa, 15 grams of Polygonum multiflorum, 15 grams of山药, 30 grams of Hedysarum polybotrys, 30 grams of grass car, and an appropriate amount of sucrose. Decoct the first five herbs, remove the residue, mix with sucrose, and take it by mouth, one dose per day, and take it continuously for 20 to 30 doses as a course of treatment.

  3. Deficiency of both Qi and blood

  (1) Angelica sinensis 30 grams, Astragalus membranaceus 30 grams, lamb 250 grams, ginger 15 grams. Wash the lamb, cut into pieces, wrap Angelica sinensis and Astragalus membranaceus in a cloth bag, place them in a pot with an appropriate amount of water, and simmer until tender. Remove the medicine residue and season to taste. Take one dose per day, and take it continuously for 4 to 5 days.

  (2) Appropriate amount of yellow croaker's swim bladder, 9 grams of Codonopsis pilosula, 15 grams of Astragalus membranaceus, and an appropriate amount of Ziziphus jujuba seed. Fry the yellow croaker's swim bladder and Ziziphus jujuba seed in sesame oil until crispy, grind into fine powder, take 6 grams each time, decoct Codonopsis pilosula and Astragalus membranaceus into a soup, and take it with the soup, three times a day, and take it continuously.

  Second, other food therapy formulas

  1. Dried figs 30 grams, Coptis chinensis 15 grams. Take the decoction by mouth, one dose per day.

  2. Fresh melon (with the seeds removed) 500 grams, pork rib 250 grams. Wash the melon, cut into cubes, wash the pork ribs, cut into pieces, cook with an appropriate amount of water until tender, season with salt, and eat as a side dish.

  3. 250 grams of lamb, 10 grams of Angelica sinensis, 10 grams of Astragalus membranaceus, and 10 grams of ginger.

  Boil lamb with water until it is seven-eighths done, then wrap Angelica sinensis, Astragalus membranaceus, and ginger in a cloth bag and tie it shut. Place it in the pot and simmer the lamb until it is tender. Drink the soup and eat the meat. It is effective for treating urinary dribbling with a deficiency of cold in Klinefelter syndrome.

  (The information provided is for reference only, please consult a doctor for specific details.)

7. Conventional methods for the treatment of Klinefelter's syndrome in Western medicine

  First, traditional Chinese medicine treatment methods for Klinefelter's syndrome

  1, Kidney deficiency type

  Syndrome: lumbar pain and fatigue, dizziness and dizziness, residual urination, narrowing of the urine stream, frequent urination, emaciation, edema, pale red tongue, white coating, deep and thin pulse. Kidney Yang deficiency is accompanied by symptoms such as aversion to cold, loose stools, impotence; kidney Yin deficiency is accompanied by symptoms such as dry mouth, irritability, insomnia, night sweats.

  Therapeutic method: for kidney Yang deficiency, it is advisable to warm the kidney Yang; for kidney Yin deficiency, it is advisable to nourish the kidney Yin.

  Herbal medicine: for kidney Yang deficiency, use modified Right Return Decoction, with herbs: prepared aconite, cinnamon, Rehmannia glutinosa, Lycium barbarum, Eucommia ulmoides, Dioscorea opposita, Semen cuscutae, Licorice root.

  For kidney Yin deficiency, use modified Six-Ingredient Rehmannia Pill, with herbs: Polygonatum, Poria cocos, Alisma orientale, Plantago asiatica, Rehmannia glutinosa, Dioscorea opposita, Licorice root.

  2, Damp-heat type

  Syndrome: urgency and frequency of urination, occasional dysuria, or accompanied by hematuria, poor appetite, white greasy tongue coating, slippery and rapid pulse.

  Therapeutic method: clearing heat and promoting diuresis, detoxifying and unblocking the淋.

  Herbal medicine: modified Biao Zheng San. Prunella vulgaris, Equisetum hyemale, white mugwort root, Solanum nigrum, Hemerocallis, Solanum lyratum, Nephrolepis, Alisma orientale, Plantago asiatica, Scutellaria baicalensis, Coptis chinensis, Atractylodes macrocephala, Licorice root.

  3, Blood stasis and toxicity type

  Syndrome: lumbar pain or back pain, descending abdominal distension and pain, difficulty in urination or hematuria, purple tongue with ecchymosis, deep and wiry pulse.

  Therapeutic method: clearing heat and detoxifying, promoting blood circulation and removing blood stasis.

  Herbal medicine: modified five-flavor disinfection drink. White mugwort root, Solanum nigrum, Hemerocallis, Solanum lyratum, Snakeberry, Forsythia, Dandelion, Sophora flavescens, Scutellaria baicalensis, Chrysanthemum morifolium, Senna alata, Licorice root.

  Second, Western medical treatment methods for Klinefelter's syndrome

  It is recommended to use androgen replacement therapy long-term or lifelong after adolescence. Currently, testosterone propionate, testosterone undecanoate, and testosterone laurate are commonly used in clinical practice. The purpose is to promote the maturation of secondary sexual characteristics, restore sexual function, improve mental state, and enable patients to better adapt to social life. However, this therapy cannot restore spermatogenic function and cannot affect female-type breasts. It is noteworthy that androgen replacement therapy should not be applied to children, as the intermediate use of androgens can promote premature ossification of the epiphyses, affecting the growth and development of children; in addition, for those with personality changes, androgen therapy should start with a low dose and gradually increase the dose to prevent aggressive behavior in patients; breast removal and breast shaping surgery can be considered for women.

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