What Is Turner's Syndrome?

Congenital ovarian hypoplasia was first described by Turner in 1938, also known as Turner syndrome. The incidence rate was 10.7 / 100,000 for newborn infants or 22.2 / 100,000 for female infants, accounting for 6.5% of embryo deaths. The clinical features are short stature, genital and secondary sexual characteristics, and a group of abnormal body development. Different levels of intellectual development. Life is the same as normal people. The mother's age does not seem to be related to this abnormal development.

Basic Information

nickname: Turner syndrome, Turner syndrome
English alias: Turner syndrome
Visiting department: Gynecology, Pediatrics, Endocrinology

Common locations: Ovary
Common causes: Gene mutation
Common symptoms: Short, genital and secondary sexual characteristics

Causes of congenital ovarian hypoplasia

The single X chromosome comes from the mother, and the lost X chromosome is caused by the segregation of sex chromosomes from the father. Under certain conditions, the chromosome group in a cell can undergo quantitative or structural changes. This type of change is called a chromosomal abnormality. Most mutagenic factors can cause chromosomal aberrations.

Clinical manifestations of congenital ovarian hypoplasia

The clinical manifestations are short genitalia, genital and secondary sexual characteristics, and abnormal development of a group of bodies. Height is generally below 150 cm. Female vulva, immature development, vagina, small or absent uterus. Physical features include multiple moles, drooping eyelids, low ears, high sacral arch, low back hairline, short and wide neck, webbed neck, barrel-shaped or shield-shaped thorax, large nipple spacing, and no development of breasts and nipples Elbow valgus, 4th or 5th metacarpal or sacrum short, palm prints closing hands, lymphedema of lower limbs, renal developmental deformity, aortic arch stenosis, etc. Different levels of intellectual development. Life is the same as normal people. The mother's age does not seem to be related to this abnormal development. LH and FSH increased significantly from 10 to 11 years old, and the increase in FSH was greater than that of LH. Bone mineral density in patients with Turner was significantly lower than in women of the same age.

In addition to 45, X, Turner syndrome can have a variety of chimeras, such as 45, X / 46, XX, 45, X / 47, XXX. Or 45, X / 46, XX / 47, XXX, etc. Clinical manifestations vary depending on which cell line is dominant in the chimera. Normal sex chromosomes are the majority, there are fewer abnormal signs; conversely, if the abnormal chromosomes are the majority, the typical abnormal signs are more.

Turner syndrome can also be caused by abnormal chromosomal structure, such as X chromosome long arm Xi (Xq), short arm equal arm Xi (Xp), long arm or short arm missing XXq-, XXp-, forming a circular Xxr or translocation . Clinical manifestations are related to how much is missing. Those who lack it can still have residual follicles and menstrual cramps, and amenorrhea after a few years.

Congenital ovarian hypoplasia

Laboratory inspection

Hormone level test, chromosome test, bone density test.

2. Other auxiliary inspections

Colposcopy and laparoscopy.

Diagnosis of congenital ovarian hypoplasia

In addition to clinical features, a chromosome karyotype test is performed first, with a chromosome of 45, X, and a sufficient number of cells are needed to determine whether there is chimerism. If the structure is abnormal, the chromosome of the missing or translocated part needs to be understood through the banding technique.

Differential diagnosis of congenital ovarian hypoplasia

There is a clinical manifestation similar to Turner syndrome, with short stature, genital dysplasia, and various physical abnormalities, but the chromosome is 46, XX, once known as XXTurner, also known as Ullrich-Noonan syndrome. In addition to sex chromosomes, the main difference is that Ullrich-Noonan syndrome can have normal sexual development and conception during adolescence, and is autosomal dominant.

Complications of congenital ovarian hypoplasia

In addition to height and weight, the disease can be accompanied by heart and kidney deformities.

Treatment of congenital ovarian hypoplasia

The purpose of treatment is to promote height, stimulate breast and genital development, and prevent osteoporosis. The final height of Turner patients is generally about 20 cm different from their peers, and there are racial differences. There is still controversy about treatments that promote height. Androgen alone is used to promote height, the effect is not obvious when the dose is small, it is effective when the dose is large, but the side effects are large, mainly virilization and impaired glucose tolerance; estrogen alone can cause early healing of growth plates, thereby limiting bone growth , Inhibit growth potential. Estrogen is not used until the age of 12, and preferably after the age of 15. Use androgens to promote height, should be used after 8 years old, generally around 11 years old. In order to increase the height before the epiphysis heals. In recent years, the trial of tibolone (Tibolone) and tibolone (Levitra), which are estrogen, gestational, and androgenic hormones, has been performed. The efficacy of estrogen plus androgen plus growth hormone therapy is similar to that of androgen plus growth hormone therapy. Due to the convenience of oral administration, it is a promising treatment.

Growth hormone (GH) treatment is currently popular. Whether Turner patients have growth hormone deficiency is controversial.

Stimulating breast and genital development with estrogen works well and requires long-term use. Premature application of estrogen promotes early healing of the epiphysis. Generally promote the height first, after the epiphysis heals, then use estrogen to make breasts and genitals develop. Use estrogen and progesterone cycle therapy for patients with Turner syndrome with uterus, starting with small doses. Available in combination with estrogen to promote breast development with few breakthrough bleeding. Estrogen cycle therapy, endometrium may have menstrual cramps. The dose can be adjusted based on the patient's response, with small doses effective.