Tuner syndrome

Tuner syndrome is also known as congenital uterine and ovarian hypoplasia and sex hormone hypoplasia. It was first discovered by Turner in 1938. It is the most common sex chromosome abnormality, accounting for 1/5000 of female newborns. 99% of Turner syndrome will lead to spontaneous abortion during in vitro fertilization, accounting for about 15% of the total cases of early spontaneous abortion.

The genetic pathology of Tuner syndrome is the occurrence of chromosome nondisjunction during meiosis, which is unrelated to the age of the pregnant woman. Chromosome nondisjunction results in the formation of X-chromosome-deficient germ cells, which, after fertilization with normal germ cells, produce X-monozygotes, i.e. 45,X. 70% of the chromosomes do not separate and are produced in the father, and all are produced during meiosis.

The typical clinical symptoms of Tuner syndrome mainly include: short stature, low hairline, webbed neck, flat and broad chest, thickened nipple interval, and incomplete positional development of the prostate characterized by cord-like uterus and ovaries.

Typical Turter syndrome patients show signs of delayed height and weight at birth, significant edema of the hands and dorsum of the feet, and loose skin on the sides of the neck. After birth, their height growth is slow, and their height in old age is about 135-140cm. Its main clinical features are: gas meter in women, low back hairline, 50% have neck webs; shield-shaped chest, thickened nipple interval; elbow valgus and multiple moles, etc. About 35% of patients have concomitant heart malformations. Aortic coarctation is the most common. besides. It can also cause renal malformations (such as horseshoe kidney, ectopic kidney, hydronephrosis, etc.), incomplete development of fingernails and toenails, shorter 4th and 5th metacarpals, and multiple moles. The patient's reproductive organs have always maintained a baby shape. The labia are underdeveloped and the uterus cannot be touched. The vast majority of patients have normal intelligence. They often seek medical treatment due to growth retardation, asexual growth and development during puberty, and primary amenorrhea. Their blood cell FSH and LH levels increase in the neonatal period, but the estradiol level is very low.

In addition to clinical symptoms and fluorescence in situ hybridization, X-chromatin of oral mucosal squamous epithelial cells or amniotic fluid cells of pregnant women can also be examined to assist in diagnosis. In the interphase cells of normal women, one X chromosome is degraded and extracted from the X chromatin. After acid-fast staining and dyeing, the diagnosis rate is about 30%, while that of men is less than 10%.