Congenital ovarian hypoplasia in children

　　Congenital ovarian hypoplasia in children is caused by the deletion or structural change of the X chromosome within the cell. Typical cases of congenital ovarian hypoplasia have a short stature and low weight at birth.

　　Typical cases of congenital ovarian hypoplasia in children have a short stature and low weight at birth. This disease generally has no other complications, but it often has associated congenital heart defects, renal malformations, etc., so it should attract the high attention of clinical doctors and parents.

　　Typical cases of congenital ovarian hypoplasia have a short stature and low weight at birth. In the neonatal period, there are special symptoms such as excessive folding of the skin behind the neck and edema on the back of the hands and feet. Patients are female phenotypes with slow growth. The height in adulthood is about 135-140cm. In addition to the underdevelopment of reproductive organs and breasts, primary amenorrhea, and lack of secondary sexual characteristics, there are also stiff facial features. The intelligence of the children is normal or slightly low. About 18% of patients have intellectual backwardness, short neck; 50% have webbed neck, low posterior hairline, wider distance between the nipples, and symptoms such as genu varum and multiple moles on the skin; about 35% of children have associated congenital heart defects, with coarctation of the aorta being more common.

　　Congenital ovarian hypoplasia in children is a sex chromosome disease, and should refer to the relevant preventive measures for genetic diseases. The following points should be paid attention to during prevention:

　　1. Prohibit marriage between close relatives.

　　2. Pre-marital examination to discover genetic diseases or other diseases that should not be married.

　　3. Detection of carriers, through means such as mass screening, family investigation, pedigree analysis, and laboratory tests, to determine whether it is a genetic disease and to determine the mode of inheritance, etc.

　　Congenital ovarian hypoplasia in children, at the time of diagnosis, in addition to relying on its clinical manifestations, also needs to be assisted by chemical tests. The main inspection methods include the following several kinds:

　　1. Peripheral blood cells

　　Karyotype analysis of chromosomes can be performed using peripheral blood lymphocyte culture techniques and methods for preparing chromosome specimens, including monosomy, mosaicism, and X chromosome structural abnormalities.

　　2. Amniotic fluid cell karyotype analysis

　　Amniocentesis is performed on high-risk pregnant women during the second trimester, and the amniotic fluid cells are cultured and analyzed for fetal karyotype after culture.

　　3. Fluorescence in situ hybridization

　　Fluorescence in situ hybridization (FISH) with a fluorescently labeled X chromosome probe (DXZ1) is used to hybridize with target cells. In patients with Turner syndrome, the FISH hybridization signal is absent or weakened in the cells.

　　4. Blood gonadotropin test

　　The examination shows that FSH and LH are significantly elevated, and E2 is decreased, indicating ovarian failure.

　　5. Pelvic Ultrasound

　　Abdominal pelvic ultrasound shows underdeveloped uterus and ovaries. Severe cases show fibrous strand-like appearance.

　　Children with congenital incomplete development of ovaries should eat more vegetables and fruits, and eat more foods containing plant estrogens. In addition to soybeans and soy products, foods such as wheat, black rice, lentils, onions, apples, pomegranates, ginkgo, fennel, sunflower seeds, coffee, and orange juice also contain a lot of plant estrogens and can be eaten more. It is recommended to choose foods that are beneficial to the physiological cyclic regulation of ovarian function in daily life, such as abalone, pigeon eggs, cuttlefish, octopus, quail, black-bone chicken, sea cucumber, shark fin, bird's nest, etc. Eat less cold, spicy and刺激性 food, and eat less sweets.

　　For girls with congenital incomplete development of ovaries, estrogen replacement therapy can be used during puberty, and the medication should start at the age of 12 to 14. The initial dose is 6.25 to 12.5μg per day, and the dose is increased to a combined application of progesterone preparations after satisfactory breast and pubic hair development (usually 6 to 24 months later). The artificial menstrual cycle is to take 25μg of diethylstilbestrol daily for 22 consecutive days. It should be noted that after the 12th day, 4mg of medroxyprogesterone acetate (progesterone) is added daily for 10 days, and then stopped together with estrogen to cause withdrawal bleeding in the patient. The above cycle is repeated after 5 days of discontinuation.