Klinefelter syndrome

Introduction to Klanfeldt Syndrome Kleinfelte's Syndrome (47,XXY) is a more common syndrome caused by abnormal chromosome numbers with multiple abnormalities. Men are extraordinarily more likely to have a female sex chromosome. The appearance is male, but usually the penis is smaller than ordinary people, no fertility, and the incidence of mental retardation increases. basic knowledge The proportion of illness: 0.005% Susceptible people: no specific population Mode of infection: non-infectious Complications: Infertility

Cause of Klanfelt syndrome

The cause of the disease is caused by the fact that the germ cells of the parents are not separated during the process of meiosis to form sperm and eggs. The older the mother of the patient, the higher the frequency of chromosome separation. In addition, some Chemical substances such as mitomycin C can cause chromosomal abnormalities; drinking can also cause Klanfelt syndrome in offspring.

Cranfield syndrome prevention

Patients are usually found in adolescence or adulthood, with small testicles, excessive gonadotropins or hypogonadism and female breasts, 1 epidemiology of approximately 1 in 1 000 boys with genomic forms of extra x chromosomes (47 , XXY), which causes Cranfield syndrome, which can be found in 1/10 children or 25% of male patients before birth. All 47,XXY karyotype males are accompanied. Infertility, Klinefelter syndrome accounts for 3% of male infertility, and in male patients with sperm reduction and sperm deficiency infertility, it is not uncommon to have Cranfield syndrome ( 5% to 10%), 2 clinical manifestations due to testicular hormone deficiency, direct or indirect urinary follicle stimulating hormone and luteinizing hormone were not inhibited, and the apparent appearance of Cranfield syndrome appeared.

Prevention: Zheng Lixin pointed out that for some genetic diseases or fertility caused by abnormal chromosome number or morphological structure, the medical community has not yet found effective prevention and treatment methods, only through genetic counseling, fertility guidance and prenatal care. Check to avoid giving birth to sick children.

Klanfelt syndrome complications Complications, infertility

Low sexual function, infertility and so on.

Cranfield syndrome symptoms common symptoms male sexual dysfunction mental reduction male infertility no beard male breast large

Can be divided into typical Klinefelt syndrome and atypical Cranfield syndrome.

Typical Cranfield syndrome:

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

1 male secondary sexual development poor testicular small and hard, the volume is only 1/3 of normal males or less than 2 cm in length; male secondary sexual development is poor, about half of the patients' breasts are feminine, the skin is delicate, the sound is sharp Like women, they are more obese, have no beards, have less body hair, have pubic hair distribution, and have lower sexual function.

2 The stature is tall and the limbs are relatively long. The lower body grows faster than the upper body and the trunk, so the lower body is longer than the upper body.

3 intelligence, mental abnormalities Some patients have mild to moderate mental developmental disorders, mental disorders or schizophrenia tendencies.

4 may be associated with other diseases such as lung disease (emphysema, chronic bronchitis), varicose veins, diabetes and so on.

Atypical Cranfield syndrome:

Patients with Kranfelt syndrome with more than 3 X chromosomes have more severe symptoms than typical Cranfield syndrome. Except for small testicles and poor development of male secondary sexual characteristics, they have serious intelligence and body. obstacle.

Examination of Cranfield syndrome

Gonadotropin - prepubertal gonadotropin is normal, usually elevated after 11 years of age, and is significantly elevated after puberty.

Excitatory test - Luteinizing hormone releasing hormone stimulation test was normal or active; chorionic gonadotropin stimulation test, testosterone increased worse than normal men.

Semen check - no sperm or a small amount of deformed sperm.

Chromosome - oral mucosal smear chromatin positive; peripheral blood lymphocyte karyotype abnormalities.

Klanfelt syndrome diagnosis and differentiation

Patients with infertility, small testicles, etc., due to the longer limbs, patients with Cranfield syndrome are usually higher than expected based on their parents' height, female body shape appears, and childhood, such as hormone secretion is relatively static In the state, the gonadal function does not decrease or has a slight decrease, so it is difficult to identify the Cranfield syndrome.

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