Nunan syndrome

Introduction Noonan syndrome has been named male Turner syndrome (male Turner syndrome), pseudo-Turner syndrome, but Noonan syndrome is not a male gonadal dysplasia in the cause of the disease, not Parallel opposites of female Turner syndrome, it is therefore inappropriate to name the disease male or pseudo Turner syndrome. The pathogenesis of male and female patients can be sick, most cases are sporadic, familial patients are autosomal dominant, and the gene is located at 12q-q. Gene mutation is the basic cause. Clinical manifestation 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 Karyotype: normal (46, XY or 46, XX). 2. Plasma gonadotropins and sex hormones: normal levels, bilateral cryptorchidism or testicular hypoplasia may have decreased plasma testosterone levels, increased levels of LH and FSH. 3. Semen analysis: Some patients have severe sperm or no sperm. Treatment measures 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 as testosterone undecanoate, testosterone enanthate) 250mg, intramuscular injection every 2 to 3 weeks.