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    Home > Active Ingredient News > Endocrine System > A certain let "Klinefelter syndrome" slip away quietly, the latest "China Consensus" guides and regulates diagnosis and treatment!

    A certain let "Klinefelter syndrome" slip away quietly, the latest "China Consensus" guides and regulates diagnosis and treatment!

    • Last Update: 2021-04-14
    • Source: Internet
    • Author: User
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    Introduction: In order to standardize the diagnosis and treatment of Klinefelter syndrome in China, the "Expert Consensus on the Diagnosis and Treatment of Kleinfeldt Syndrome" organized by experts from the Gonadology Group of the Endocrinology Branch of the Chinese Medical Association was recently published in China Published in the Journal of Endocrinology and Metabolism.

    This article has edited the core content for your reference.

    (The full text download link of the "Consensus" is attached at the end of the article) What is Klinefelter syndrome? Klinefelter syndrome (Kleinfeldt syndrome) is the most common cause of congenital male hypogonadism.

    The cause of the disease is that the patient has inherited one or more extra X chromosomes from the father or (and) the mother.
    The clinical manifestations include hard and small testes, anorchid-like body, male breast development, sexual dysfunction, infertility, and glucose and lipid metabolism Disorder etc.

    Epidemiology: ➤The prevalence of Klinefelter syndrome in male newborns is 1/660-1/600; ➤The prevalence in the overall population is 0.
    1%-0.
    2%; ➤The prevalence of male infertility patients The rate is about 3.
    1%; ➤The prevalence rate in patients with severe oligospermia is about 5%; ➤The prevalence rate in patients with azoospermia is as high as 10%-15%.

     What are the clinical characteristics of the patient? As Klinefelter syndrome patients contain Y chromosomes in various chromosomal karyotypes, the overall appearance of the phenotype is male, but the gene expression of the extra X chromosome weakens the Y chromosome's determinative effect on males.

    The clinical manifestations vary greatly among individuals and have obvious temporality.
    The main clinical characteristics of patients are shown in Table 1.

    Table 1 The main clinical manifestations of Klinefelter syndrome patients of different ages.
    Screening and diagnosis of Klinefelter's syndrome.
    1.
    Screening recommends screening for Klinefelter's syndrome in the following populations: ➤Growth, developmental delay or small penis, small testicles ➤Language, learning, or dyslexia; ➤Imbalance of limbs, long arms and long legs; ➤Lose, azoospermia, or infertility; ➤Onset of middle-aged diabetes with hypergonadotropic hypogonadism or Patients with osteoporosis.  2.
    Diagnosis The diagnosis of patients with Klinefelter syndrome needs to be combined with detailed medical history collection, physical examination, laboratory and imaging examinations to make comprehensive judgments.
    The diagnosis and treatment experience of clinicians is very important to improve the diagnosis rate.

     The main treatment goals of Klinefelter’s syndrome treatment 1.
    Promote and maintain the development of male secondary sexual characteristics, serum T levels return to the middle value of the normal reference range, and LH declines slowly.
    It is recommended to return to the upper limit of the normal reference range; 2.
    Retain fertility; 3.
    Treat male breast development; 4.
    Prevent and treat androgen deficiency leading to glucose and lipid metabolism disorders, sarcopenia, osteoporosis and cardiovascular diseases.

     1.
    T replacement therapy 1.
    Timing of treatment: It is recommended to start T replacement therapy (TRT) at the beginning of puberty, which can improve the quality of life of patients while avoiding serious complications.

     2.
    Formulation and dosage: There are many types of T preparations abroad, including intramuscular injection preparations, oral preparations, subcutaneous T preparations, T gels and transdermal patches.

    At present, the main domestic products are intramuscular injection preparations and oral preparations.

    Testosterone undecanoate injection or testosterone enanthate: 125-250 mg each time, once every 2-4 weeks.

    The dosage and interval of medication can be adjusted by monitoring the serum T level.
    The recheck time of serum T is recommended to be in the middle of two injections.

    T injections have a high absorption rate and are easy to use.
    After injection, the serum T level of most patients can quickly rise to within the normal range, but there is painful intramuscular injection; testosterone undecanoate capsules: the initial dose is usually 40-80mg per day, continuous service In 2-3 weeks, the follow-up treatment dose is determined according to the rechecked T level.
    The long-term maintenance dose is 80-160mg (in the morning and evening, if it is not evenly divided, take 1 more in the morning), because it is absorbed by the intestinal lymphatic system after taking It needs to be taken with meals.
    Eating foods containing a certain amount of fat will help the absorption of the drug.
    The entire capsule must be swallowed without chewing.

    Oral preparations can avoid the pain of intramuscular injection, but the drug absorption rate is low.

    The T dosage form needs to be selected based on patient compliance and treatment goals.

      If there are no contraindications, it is recommended to maintain TRT for a long time to improve gonadal function, prevent and treat metabolic abnormalities caused by hypogonadism such as obesity and diabetes, and obtain possible cardiovascular benefits.

     2.
    Other Fertility preservation: For patients with Klinefelter's syndrome whose sperm is not detected in semen, it is recommended to use TESE and ICSI techniques to achieve the purpose of fertility or preservation of fertility.

     Mammary gland development: 30%-80% of patients have mammary gland development, which usually does not subside due to TRT, and usually requires oral medication (tamoxifen) or surgical treatment.

     Metabolism management: Regularly monitor blood sugar, actively control weight and other high-risk factors of metabolic disorders to reduce the harm caused by long-term poor metabolic control.

     Psychological counseling intervention: The patients themselves are prone to depression and paranoia, and psychological intervention or drug treatment should be carried out when necessary.

     Genetic counseling: Some pregnant women will be diagnosed with Klinefelter syndrome when amniocentesis during pregnancy.
    It is necessary to fully inform that Klinefelter syndrome is not life-threatening, but possible cognition, personality, fertility, and metabolic abnormalities will seriously interfere with health and reduce The quality of life has brought a heavy psychological and economic burden to the family, and whether the pregnancy is terminated or not needs to be fully evaluated.

     Summary Klinefelter syndrome is a chromosomal abnormality.
    Early diagnosis and treatment are essential to improve the quality of life and prognosis of patients with Klinefelter syndrome.

    TRT is the cornerstone of Klinefelter syndrome treatment.
    It is recommended to start TRT once adolescence is reached.

    If surviving sperm are detected before starting treatment, TRT needs to be postponed.

    Some patients with Klinefelter's syndrome can meet their fertility needs through TESE and ICSI, and it is necessary to grasp the best time window (16-35 years old) for testicular biopsy to obtain sperm.

    Klinefelter syndrome patients and their families need to receive necessary psychological counseling and counseling.

     Download the full text of the guide: http://guide.
    medlive.
    cn/guideline/22855 The above content is extracted from: Gonadology Group of Endocrinology Branch of Chinese Medical Association.
    Expert consensus on diagnosis and treatment of Kleinfeldt syndrome[J].
    Chinese Endocrinology and Metabolism Magazine.
    Volume 37, Issue 2, February 2021.
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