Male Turner Syndrome
Introduction
Introduction to male Turner syndrome Intrinsic is a type of primary testicular hypofunction, essentially a hereditary disease of sex chromosome aberrations. Mainly manifested as primary gonadal dysplasia small testicle small penis cupping net, also often manifested as cryptorchidism, testicular fine tubule dysplasia but interstitial cells often hyperplasia. basic knowledge Sickness ratio: 0.0004% Susceptible people: seen in men Mode of infection: non-infectious Complications: cryptorchidism
Cause
Male Turner syndrome etiology
This disease attributes a genetic disorder of chromosomal abnormalities.
Chromosomal aberrations refer to the number or structural changes in chromosomes. This includes an increase in the composition of the entire chromosome, an increase or decrease in the number of pairs of chromosomes, an increase or decrease in a segment of a single chromosome, and a change in the position of individual segments of the chromosome. These distortions can be observed and identified under the microscope, which is the root cause of chromosomal disease formation. Chromosomal aberrations are classified into number aberrations and structural aberrations.
Prevention
Male Turner Syndrome Prevention
Male Turner Syndrome This disease is a genetic disorder of chromosomal abnormalities. The cause of chromosomal abnormalities is not clear, and may have certain correlation with environmental factors, genetic factors, dietary factors, and mood and nutrition during pregnancy. Therefore, this disease cannot be directly prevented. Early detection, early diagnosis, and early treatment are important for preventing this disease. Regular examination should be done during pregnancy. If the child has a tendency to develop abnormalities, chromosome screening should be done in time, and abortion should be performed in time to avoid the birth of the diseased child.
Complication
Male Turner syndrome complications Complications cryptorchidism
Male Turner Syndrome This disease is a genetic disorder of chromosomal abnormalities. Short stature, sputum, wide eye distance, dull face, chest, nipple spacing, elbow valgus, over-neck and other deformities, so called male or pseudo Turner syndrome, primary gonadal dysplasia Small testicles, small penis, also often manifested as cryptorchidism, testicular fine tubule dysplasia, but interstitial cells often hyperplasia, blood testosterone secretion is normal or decreased, urinary gonadotropin increased.
Symptom
Symptoms of male Turner syndrome Common symptoms Eyelid drooping heart malformation
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 are widened, the face is dull, the shield is 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.
Examine
Male Turner syndrome check
1. Blood testosterone secretion is normal or decreased, and urinary gonadotropin is increased.
2. 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.
Echocardiography often shows cardiac malformations such as pulmonary stenosis.
Diagnosis
Diagnosis and diagnosis of male Turner syndrome
Diagnostic criteria
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, blood testosterone secretion normal or decreased, urinary stimuli Gonadotropin increased.
2. The body shape is often similar to the Tuna syndrome. The body is short, the eyelids are widened, the face is dull, the chest is thick, 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.
Differential diagnosis
The intrinsic classification is more confusing, and the following syndromes must be identified.
1. Turner syndrome: Obviously the essential difference is female, congenital ovarian hypoplasia, the karyotype is mainly 45, XO.
2. Alien Turner syndrome: Turner syndrome is the ovarian fibrous cord-like development, and this syndrome is one side of the testicular development but not perfect, also known as Turner male pseudo-hermaphroditism.
3. Noonan syndrome: Someone has classified male Turner syndrome into Noonan syndrome. The similarity is that the first four points of the clinical characteristics of male Turner syndrome are consistent. It should be noted that:
1Noonan syndrome can occur in both men and women;
2 mainly manifested as congenital heart disease, and gonadal dysplasia does not necessarily exist, the gonad may not develop to normal development;
3 It should be noted that the karyotype is normal (see Noonan syndrome for details).
4. Bonnevie-Ullrich syndrome: Some people once thought that male Turner syndrome is the intrinsic, 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 the involvement of connective tissue, and congenital heart disease is not the main deformity;
4 chromosome karyotype is normal.
