Introduction
Intrinsic is a type of primary testicular hypofunction, essentially a hereditary disease of sex chromosome aberrations.
Symptoms and signs
1. The main manifestations are primary gonadal dysplasia, small testicles, small penis, often manifested as cryptorchidism, testicular fine tubule dysplasia, but interstitial cells often hyperplasia.
2. The body shape is often similar to the Tuna syndrome. The body is short, the eyelids, the eye distance is widened, the face is dull, the shield chest, the distance between the nipples is increased, the elbow is everted, the nails are over convex and other deformities, so it is called male or false. Turner syndrome.
3. Often accompanied by pulmonary malformation and other cardiac malformations.
4. The intelligence is often low with drooping eyelids.
5. It is important that the karyotype analysis is often distorted, mostly chimeric, such as 45, XO/46, XY, 45, XO/47, XXY, 45, XO/46, XY/47, XXY, and the like.
6. No obvious family history.
Medication treatment
The intrinsic is mainly for primary hypogonadism, and the treatment can use androgen, but it can not play a reproductive role (light or fertility). If there is cryptorchidism, because there is no tendency to malignant, it is not necessary to remove; the incidence of autoimmune thyroiditis is slightly higher, need to pay attention to identification.
Dietary care
Mostly based on light food, pay attention to the law of diet.
Preventive care
The disease is a hereditary disease of sex chromosome aberration and can be examined for genetic related aspects.
Pathological cause
This disease attributes a genetic disorder of chromosomal abnormalities.
Disease diagnosis
The intrinsic classification is more confusing, and the following syndromes must be identified.
1. Turner syndrome It is obvious that the essential difference is female, congenital ovarian hypoplasia, the karyotype is mainly 45, XO.
2. Alien Turner syndrome Turner syndrome is an ovarian fibrous cord that does not develop. The syndrome is one side of the testicular development but not perfect, also known as Turner male pseudohermaphroditism.
3. Noonan syndrome Someone has classified male Turner syndrome as Noonan syndrome. The similarities are in the first four points of the clinical features of male Turner syndrome. It should be noted that: 1 Noonan syndrome can occur in both men and women; 2 mainly manifested as congenital heart disease, and gonadal dysplasia does not necessarily exist, the gonads may not develop to normal development; 3 in particular, the karyotype is normal (see Noonan syndrome).
4. Bonnevie-Ullrich syndrome It has been suggested that male Turner syndrome is an intrinsic sign. The main points are as follows: 1 intrinsic men and women can be affected; 2 characteristic lymphatic dilatation edema in the lactation period; 3 the main abnormality may be connective tissue involvement, and congenital heart disease is not the main deformity; 4 chromosome The type is normal.
Inspection Method
Laboratory inspection:
BloodTestosteroneThe secretion is normal or decreased, and urinary gonadotropin is increased.
2. It is important that karyotype analysis is often distorted, mostly chimeric, such as 45, XO/46, XY, 45, XO/47, XXY, 45, XO/46, XY/47, XXY, and the like.
Other auxiliary inspections:
Echocardiography often shows cardiac malformations such as pulmonary stenosis.
complication
There is currently no relevant information.
Prognosis
Light cases can also have fertility.
Pathogenesis
There is currently no relevant information.
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