Diagnosis of gonadal dysplasia.
(1) Hypothalamic abnormality
1. Acquired lesions: These diseases include hypothalamic tumors, inflammation, trauma, vascular diseases, granuloma, etc. Some patients can't find obvious reasons. Clinically, they are mostly short or tall, with short or slender limbs. Some patients have symptoms of hypothalamic damage: diabetes insipidus, narcolepsy, anorexia, bulimia, thermoregulation disorder, visual field defect and so on. Most patients have one or more of the above symptoms, and a few patients have no other symptoms except sexual dysplasia. Among them, the etiology of obese reproductive insufficiency syndrome caused by hypothalamic lesions can be one of the above factors, which is relatively rare and needs to be differentiated from some obese and delayed puberty patients in clinic, who have no central damage.
2. Congenital factors: These diseases include Laurence-Moon-Biedle syndrome, Preder-Willi syndrome and familial cerebellar ataxia dyskinesia (familial diseases). These diseases have clinical features. Typical cases are not difficult to diagnose. The symptoms and signs of atypical cases may not exist or be complete, or they may be accompanied by other malformations, which need to be carefully identified in clinic.
(2) Gonadal lesions
1. The gonad is damaged due to tumor or other reasons, inflammatory radiation irradiation, the gonad cannot secrete sex hormones, and the secondary sexual characteristics are undeveloped.
2. Gonadal insufficiency is mainly a congenital disease. It is accompanied by other malformations, some of which are related to abnormal chromosome number, such as Turner syndrome. The patient's somatotype is 45, XO, with short figure, webbed neck, shield chest, short fourth metacarpal bone and no menstruation. Congenital hypoplasia of seminiferous tubules (Klinefeter syndrome), the patient's somatic karyotype is 47, XXY, male appearance, sexual dysplasia, male breast development.
The difference between primary gonadal diseases and hypothalamic and pituitary infantilism lies in the lack of feedback inhibition of sex hormones, and the level of gonadotropin in the body is obviously higher than normal, which is of great significance for the differential diagnosis of puberty, but gonadotropin has not been secreted in large quantities before puberty, which is of little value as a differential index. For this kind of patients, LHRH excitation test is generally used-the response of patients with delayed puberty is similar or higher than that before puberty; Hypothalamus and pituitary infants have poor or no response; Patients with primary gonadal diseases overreacted.
2. How to prevent gonadal dysplasia?
1. Premarital physical examination plays a positive role in preventing birth defects, which depends on the items and contents of the examination, mainly including serological examination (such as hepatitis B virus, Treponema pallidum and HIV), reproductive system examination (such as screening cervical inflammation), general physical examination (such as blood pressure and electrocardiogram), family history and personal past history. Pregnant women should try to avoid harmful factors, including tobacco, alcohol and drugs. In the process of prenatal care during pregnancy, it is necessary to carry out systematic birth defect screening, including regular ultrasound examination and serological screening. , chromosome examination if necessary.
2. If the result is abnormal, know whether to terminate the pregnancy; The safety of the fetus in the uterus; Is there sequela _, can it be treated, what is the prognosis, and so on. Take practical measures for diagnosis and treatment _ The prenatal diagnosis techniques used are: ① Amniotic fluid cell culture and related biochemical tests (the appropriate time for amniocentesis is pregnancy 16 ~ 20 weeks); ② Determination of AFP in blood and amniotic fluid of pregnant women; ③ Ultrasound imaging (it can be used about 4 months pregnant); ④X-ray examination (after 5 months of pregnancy) is beneficial to the diagnosis of fetal skeletal malformation; ⑤ The sex chromatin of villi (40 ~ 70 days after conception) is measured to predict the sex of the fetus, thus assisting in the diagnosis of X-linked genetic diseases; ⑥ Application of gene linkage analysis; ⑦ Fetal endoscopy.
3, through the application of the above technology, prevent the birth of a fetus with serious genetic diseases and congenital malformations.
The only feasible haplotype syndrome.
(3) Pituitary infantilism
1. Hypofunction of anterior pituitary gland: Pituitary function is impaired by pituitary adenoma, hemorrhage, trauma, immunity, sarcoidosis and other factors, which may affect the quantity and mode of gonadotropin secretion, such as the development of gonadal characteristics in adolescence. Clinically, in addition to abnormal sexual development, patients may or may not have other pituitary dysfunction, such as gigantism, hyperprolactinemia, oppression symptoms of nonfunctional pituitary adenoma, and total or partial dysfunction of the anterior pituitary gland.
2. Patients with selective gonadotropin deficiency have no other endocrine abnormalities except sexual naivety or sexual hypoplasia, and the pituitary imaging examination is normal. The patient is eunuch-like, and the epiphysis is not fused; Patients can have a little pubic hair growth because the adrenal gland secretes certain androgens.
3. What about gonadal dysplasia?
The etiology is not clear, refer to the prevention methods of congenital diseases. Preventive measures should be taken from pre-pregnancy to prenatal:
1. If the result is abnormal, you should know whether to terminate the pregnancy; The safety of the fetus in the uterus; Whether there are sequelae, whether it can be treated, and what is the prognosis. Take practical measures for diagnosis and treatment. The prenatal diagnosis techniques used are: ① amniotic fluid cell culture and related biochemical tests (the appropriate time for amniocentesis is pregnancy 16 ~ 20 weeks); ② Determination of AFP in blood and amniotic fluid of pregnant women; ③ Ultrasound imaging (it can be used about 4 months pregnant); ④X-ray examination (after 5 months of pregnancy) is beneficial to the diagnosis of fetal skeletal malformation; ⑤ The sex chromatin of villi (40 ~ 70 days after conception) is measured to predict the sex of the fetus, thus assisting in the diagnosis of X-linked genetic diseases; ⑥ Application of gene linkage analysis; ⑦ Fetal endoscopy.
2. Premarital physical examination plays a positive role in preventing birth defects, which depends on the items and contents of the examination, mainly including serological examination (such as hepatitis B virus, Treponema pallidum and HIV), reproductive system examination (such as screening cervical inflammation), general physical examination (such as blood pressure and electrocardiogram) and asking about family history and personal past history. Do a good job in genetic disease consultation. Pregnant women should avoid harmful factors as much as possible, including staying away from cigarettes, alcohol, drugs, radiation, pesticides, noise, volatile harmful gases, toxic and harmful heavy metals, etc. In the process of prenatal care during pregnancy, it is necessary to carry out systematic birth defect screening, including regular ultrasound examination and serological screening. , chromosome examination if necessary.
3, through the application of the above technology, prevent the birth of a fetus with serious genetic diseases and congenital malformations.