Turner syndrome

　　In 1959, Ford and others confirmed that Turner syndrome is caused by monosomy of the X sex chromosome. The phenotype of Turner syndrome accounts for about 0.4‰ of live female infants, and its low incidence is due to the fact that X monosomic embryos are not easy to survive, with about 99% of cases resulting in miscarriage. This disease is also the only monosomic syndrome that humans can survive. The single X chromosome comes from the mother, and the lost X chromosome is caused by non-separation of the paternal spermatogenic cell X chromosome. Under certain conditions, the chromosome set in cells can undergo changes in quantity or structure, and such changes are called chromosomal abnormalities. Most mutagenic factors can cause chromosomal abnormalities. The clinical manifestations of mosaicism are relatively mild, and mosaicism with Y chromosomes can show masculinization characteristics, short stature, and other Turner symptoms, which are mainly determined by monosomy of the short arm of the X chromosome, but incomplete ovarian development and infertility are more related to monosomy of the long arm. It is now known that various factors can cause chromosomal abnormalities, and it can also be said that most mutagenic factors can cause chromosomal abnormalities. Currently, there is only a general understanding of these causes, and further research is needed.

　　Chromosomal abnormalities may show familial tendency, which suggests that chromosomal anomalies are related to heredity. There may be genes with a tendency to nondisjunction in humans, and other organisms may also have similar genes. It is reported that patients with the same non-disomy in the same family exist, and the chromosomal abnormalities of the parents are transmitted to the next generation in different ways. The most obvious example is some carriers of balanced translocations, which can cause chromosomal abnormalities or normal offspring, among which those involving D and G chromosomes are more common because they are acrocentric chromosomes that form somatic chromosomes during mitosis. This may be one of the causes of nondisjunction. Autoimmune diseases seem to play a certain role in chromosomal nondisjunction, such as the close correlation between increased primary autoimmune antibodies in thyroid and familial chromosomal abnormalities.

　　In addition to short stature and low weight, patients with Turner syndrome may also have congenital heart disease, renal malformations, and other conditions. The risk of fractures, diabetes, hypertension, stroke, and other diseases increases after adulthood, and the average lifespan is shortened.

　　Turner syndrome is characterized by short stature, underdevelopment of reproductive organs and secondary sexual characteristics, and a group of somatic developmental abnormalities. Height is generally below 150 centimeters. Patients have female-type external genitalia, underdeveloped gonads, small uterus and fallopian tubes, fibrous ovaries, often lack of oocytes and cystic follicles, primary amenorrhea, infertility, sparse pubic hair, thin vaginal mucosa; somatic features include multiple moles, ptosis of eyelids, large ears with low position, high palate arch, low hairline at the back, short and wide neck, presence of webbing, barrel-shaped or shield-shaped chest, wide nipple spacing, undeveloped breasts and nipples, radial deformity, short fourth or fifth metacarpal or phalanges, palmprint crossover, lymphedema of the lower limbs, renal developmental malformations, aortic arch stenosis, and others. The degree of intellectual development delay varies, and the lifespan is the same as that of normal people. The mother's age does not seem to be related to this developmental abnormality. LH and FSH levels significantly increase from 10 to 11 years old, and the increase in FSH is greater than that in LH. The bone mineral density of Turner patients is significantly lower than that of normal women of the same age.

　　Turner综合征的染色体除45、X外，可有多种嵌合体，如45、X/46、XX、45、X/47、XXX，或45、X/46、XX/47、XXX等。临床表现根据嵌合体中哪一种细胞系占多数而异，正常性染色体占多数，则异常体征较少。反之，若异常染色体占多数，则典型的异常体征较多。

　　The chromosomes of Turner syndrome, in addition to 45, X, can have various chimeras, such as 45, X/46, XX, 45, X/47, XXX, or 45, X/46, XX/47, XXX, etc. The clinical manifestations vary depending on which cell line is predominant in the chimera, if the normal sex chromosome is predominant, there will be fewer abnormal signs. Conversely, if the abnormal chromosome is predominant, there will be more typical abnormal signs.

　　Turner syndrome should take preventive measures against etiology, prevent chromosomal abnormalities, and provide early treatment for children to prevent future complications. In clinical practice, for women over 35 years old, routine amniocentesis or chorionic villus sampling is performed, mainly to exclude congenital malformations of Down syndrome. During this process, her karyotype can also be paid attention to, and if there is a deletion or abnormality of the X chromosome, an abortion can be chosen. In addition, prenatal examination by B-ultrasound can also help screen.

　　In addition to the general hormone treatment for Turner syndrome, the symptoms can also be greatly improved through the following dietary therapy.

　　1, Erxian Mutton Soup

　　Xianmao, Xianlingpi each 12 grams, ginger 15 grams, mutton 250 grams, a little salt, cooking oil, and monosodium glutamate. Cut the mutton into slices, put it in a pot with an appropriate amount of water, then put the Xianmao, Xianlingpi, and ginger wrapped in gauze into the pot, simmer the mutton over low heat until it is tender, add the seasonings, and it is ready to eat. Remove the medicine bag when eating, and eat the meat and drink the soup. This food therapy for ovarian maintenance has the effect of nourishing the kidney.

　　2, Shenyu Lean Pork Soup

　　50 grams of fish bladder and lean pork, 20 grams of Chinese wolfberry and Taizi参, 18 grams of raw earth. Soak the fish bladder in clean water to soften, then cut into strips; wash the lean pork, slice it; and clean the other ingredients. Put all the ingredients in a pot, add an appropriate amount of water, simmer over low heat for 1-2 hours, add salt to taste, drink the soup and eat the fish bladder, Chinese wolfberry, and lean pork, and finish it within a day. It has the effect of nourishing yin and reducing fire, and helps women maintain their ovaries.

　　The treatment goal of Turner syndrome is to promote height, stimulate breast and genital development, and prevent and treat osteoporosis. The final height of Turner patients is generally about 20 cm lower than that of their peers, and there are racial differences. There is still controversy about the treatment methods to promote height. The use of androgens alone to promote height has no significant effect at low doses, is effective at high doses, but has significant side effects, mainly masculinization and impaired glucose tolerance; the use of estrogen alone is easy to cause early ossification of the growth plate, thereby limiting bone growth and inhibiting growth potential. Estrogen should not be used before the age of 12, and it is best to use it after the age of 15. Androgens should be used to promote height after the age of 8, usually around the age of 11.

　　Improve the final adult height and sexual characteristics development, ensure the mental health of children. Strive for early diagnosis and early use of growth hormone for gene replacement, with a subcutaneous injection of 0.15U/kg every night, which can significantly increase the child's height. If their bone age is significantly behind, a combination of stanozolol (Kanglilong) 25-50μg/kg can be taken orally daily, which is more effective. At the same time, regular tests of thyroid function and bone age development should be carried out. When the bone age reaches 12 or above, oral small-dose estrogen treatment can be started to promote the development of breasts and external genitalia. Commonly used are ethinyl estradiol (10-20μg/d) or dienestrol (0.1-0.5mg/d) or equilin, starting from 310μg per day, and gradually increasing the dose according to the clinical effect.

　　Currently, the treatment of growth hormone (GH) is quite popular. There is still controversy about whether Turner patients have a problem of growth hormone deficiency. Estrogen stimulation of breast and genital development is effective and needs to be used for a long time. The early application of estrogen promotes the early ossification of the epiphysis. Generally, the height is promoted first, and then estrogen is used to promote the development of breasts and genitals after the epiphysis ossifies. For Turner syndrome patients with uterus, the estrogen-progesterone cyclic therapy is adopted, and it starts with a low dose. Estrogen can be used to promote breast development, and breakthrough bleeding is rare. The estrogen-progesterone cyclic therapy may cause menstrual periods in patients with endometrium. The dose can be adjusted according to the patient's response, with the effective dose being as low as possible.