Absence or hypoplasia of ovaries

Introduction Congenital ovarian hypoplasia, for women lacking an X chromosome caused by short stature, primary amenorrhea, neck sacral, elbow valgus and other abnormalities. The incidence of this type is much lower than that of the previous type, accounting for 0.64% of female intellectual defects. Its clinical features are female appearance, short body, second characteristic dysplasia, lack of ovaries, and no fertility. Some patients have mild mental retardation. Some patients are accompanied by congenital malformations such as heart, kidney and bone. The disease was reported by Turner in 1938, so it is called Turner syndrome. In 1959, Ford et al. confirmed that the cause of sex chromosome X was monogenic. The patient's gonadal development disorder, the ovary was replaced by a cord-like fibrous tissue. The phenotype of Turner syndrome is that women account for about 0.4% of live births, and the low incidence is due to the inability of X-element embryos to survive, and about 99% of cases have a miscarriage. The disease is also the only monomeric syndrome that humans can survive.

Cause

In 1959, Ford et al. confirmed that the cause of sex chromosome X was monogenic. The phenotype of Turner syndrome is that women account for about 0.4% of live births, and the low incidence is due to the inability of X-element embryos to survive, and about 99% of cases have a miscarriage. The disease is also the only monomeric syndrome that humans can survive. The patient's gonadal development disorder, the ovary was replaced by a cord-like fibrous tissue.

an examination

Related inspection

Estradiol luteinizing hormone urine estradiol ovarian function test ovarian examination

1, short stature is the most constant feature of this disease.

2, low intelligence.

3, the patient is usually naive, docile, easy to get along with.

4, the patient's external genitalia is young, the gonad is not developed, the uterus and fallopian tubes are small, the ovary is strip-like, oocytes and cystic follicles are often absent, primary amenorrhea, infertility, pubic hair is scarce, vaginal mucosa is thin, No secretions.

5, may have drooping eyelids, internal suede, low hair, low ear, high arch, neck, melanin and so on. Often there are bone deformities.

Diagnostic examination

The serum estradiol level was low, and follicle stimulating hormone (FSH) and luteinizing hormone (LH) were significantly increased. The sex chromatin test was negative. The diagnosis must be done for chromosome examination, and its karyotype has the following types:

1 haplotype: 45, X0, is the most common type, with typical symptoms.

2 chimeric type: 45, X0/46, XX, if 46, XX cells are the main, the symptoms are mostly light, about 20% may have puberty development, menstrual cramps, some may have fertility, but its spontaneous abortion rate and The rate of stillbirth is high, and the risk of chromosomal aberrations in the offspring is also high.

3X chromosome structural aberration type: one X chromosome long arm and or short arm deletion, such as 46, Xdel (Xq) or 46, Xdel (Xp), and X and other chromosomes, such as 46, Xi (Xq) or 46, Xi ( Xp).

Differential diagnosis

If the girl is found to have short stature, elbow valgus, neck sputum, secondary sexual assault and some congenital malformations, she should be suspected of the disease and check her somatic nuclear chromatin. If it is negative, consider the possibility of this disease. (Most patients are negative), the chromosome should be further examined to confirm the diagnosis.

In the differential diagnosis, the following diseases should generally be considered:

1 pituitary dwarfism: patients with no deformity, lack of growth hormone secretion, some patients also have thyroid stimulating hormone, adrenocortical hormone deficiency. There is less gonadotropin in the urine during puberty, as opposed to Turner's syndrome.

2 puberty development delay: Although puberty is delayed for several years compared with normal children, but it can reach normal development level, its endocrine function is also normal, and the growth and development of gothic syndrome and gonadal function are not normal.

3 Children with low birth weight and low body length: the body weight is significantly lower than normal children at birth and the life is lower than normal. Its growth hormone and bone age are close to normal. Some are associated with a variety of congenital malformations, which constitute various syndromes, but there is no manifestation of Turner's syndrome such as short neck, low hairline and elbow valgus.

4XXTurner's syndrome: The clinical manifestations of this sign are basically the same as those of Turner's syndrome, but the cell chromosome number is 46, XX normal karyotype, which needs to be identified by cell chromosome and sex chromatin examination.

5Noonan syndrome: clinical manifestations similar to Turner's syndrome, more intelligent retardation, some patients with cardiovascular malformations, of which pulmonary artery stenosis and atrial septal defect are the most common, the karyotype is normal male and female, and nuclear type 45 XOTurner's syndrome is very different and can be identified by chromosome examination.

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