Introduction
Noonan syndromeIt was once named male Turner syndrome (male Turner syndrome), pseudo-Turner syndrome, but Noon's syndrome is not a male gonadal dysplasia in the cause of the disease, not the parallel opposite of the female Turner syndrome. Therefore, it is not appropriate to name the disease as male or pseudo Turner syndrome.
Pathogenesis
Both males and females can be sick. Most cases are sporadic. Familial patients are autosomal dominant, and genes are located at 12q-q. Gene mutations are the basic cause.
Clinical manifestation
1. Head and neck symptoms: wide eye distance, internal epidermis, drooping eyelids and downward slanting, low wind, low ear position, short neck, neck sputum.
2. Cardiovascular system: pulmonary artery narrowing (50% to 60%), hypertrophic cardiomyopathy (20%), atrial septal defect (10%), aortic coarctation (10%), patent ductus arteriosus, abnormal electrocardiogram .
3. Skeletal system: short stature, shield chest, chicken breast, funnel chest, elbow valgus, bone age behind.
4. Nervous system: low intelligence (15%), strabismus, refractive error.
5. Hemolymphatic system: coagulation disorder, prone to ecchymosis (65%) and excessive postoperative bleeding, lymphedema (15%).
6. Reproductive system: Female patients may have delayed puberty, and ovarian function and secondary sexual development are basically normal. About half of the male patients have normal testicular function, and the rest may have cryptorchidism, no sperm, delay in youth, and hypoplasia of secondary sexual characteristics.
Auxiliary inspection
1. Karyotype: normal (46, XY or 46, XX).
2. Plasma gonadotropins and sex hormones: normal levels, bilateral cryptorchidism or testicular hypoplasia may have plasmaTestosteroneThe level is lowered and the LH and FSH levels are increased.
3. Semen analysis: Some patients have severe sperm or no sperm.
Treatment
1. There are no specific treatments for various congenital somatoformities.
2. Some male patients have insufficient testosterone secretion after puberty, which is an indication of androgen replacement therapy. Oral TU40mg, 2 to 3 times a day orally or esterified testosterone (such asTestosterone undecanoate,Testosterone enanthate) 250mg, intramuscular injection once every 2 to 3 weeks.
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