Why does it occur
Girls normally have two X chromosomes. With this syndrome, one of them is completely absent, partially lost or changed in structure. The most common karyotype is 45.X. A mosaic form is often found, when some of the cells have a normal set, and then the manifestations are milder, and in some women, ovarian function is even preserved for some time. The reason is an accidental error during the formation of germ cells or in the early divisions of the embryo. Unlike trisomies, the risk is not related to maternal age and there is no increased likelihood of recurrence in a family.
- Karyotype 45.X - the most common variant
- Mosaic forms with softer manifestations
- Structural changes of the X chromosome
- Random cell division error
- Does not depend on the age of the mother
- The risk of recurrence in the family is not increased
How it manifests itself at different ages
In a newborn girl, you may notice swelling of the hands and feet, excess skin on the back of the neck, and a low hairline. In preschool age, the main symptom is stunting: the girl grows slower than her peers, and the gap gradually widens. During adolescence, puberty does not begin or end, and there are no menstruation. Infertility most often brings adult women to the doctor. It is important that intelligence is usually normal, although difficulties with mathematics and spatial perception are common.
- Swelling of the hands and feet in a newborn
- Wing-shaped folds on the neck, low hairline
- Progressive stunting
- Lack of breast development in adolescence
- Lack of menstruation
- Wide chest, valgus elbows
- Multiple age spots on the skin
- Primary infertility in adults
Related Issues
The syndrome affects not only growth and sexual development. A significant proportion of girls have congenital features of the heart and aorta, including bicuspid aortic valve and coarctation of the aorta, so cardiac monitoring is mandatory throughout life. Horseshoe kidney and other abnormalities of the urinary system, hearing loss due to repeated ear infections, autoimmune thyroiditis, celiac disease, glucose metabolism disorders, and with age, osteoporosis are common. Regular examinations allow you to identify these conditions in time and prevent complications.
- Bicuspid aortic valve and coarctation of the aorta
- Risk of aortic dilatation and dissection in adults
- Horseshoe kidney and urinary tract abnormalities
- Recurrent ear infections and hearing loss
- Autoimmune thyroiditis
- Celiac disease and glucose metabolism disorders
- Osteoporosis due to estrogen deficiency
- High blood pressure
Diagnostics
The syndrome can be suspected by short stature and lack of puberty, and sometimes by ultrasound data during pregnancy. The diagnosis is confirmed only by karyotyping using a blood test, which evaluates a sufficient number of cells so as not to miss the mosaic form. The hormonal profile typically shows a significant increase in FSH and LH with low estradiol - this indicates primary ovarian failure. Echocardiography, ultrasound of the kidneys and pelvic organs, hearing testing, as well as monitoring of thyroid function and metabolic parameters are required.
- Blood karyotyping with analysis of a sufficient number of cells
- FSH, LH and estradiol
- Ultrasound of the pelvic organs
- Echocardiography and, if necessary, MRI of the aorta
- Kidney ultrasound
- Thyroid hormones and antibodies
- Audiometry
- Estimation of growth curves and bone age
Treatment and observation
Treatment is prescribed by a pediatric endocrinologist. Growth hormone therapy begins with stunted growth, even before adolescence, and can significantly increase final height. Estrogen replacement therapy begins at an age consistent with normal puberty and is then supplemented with progestogens to promote the development of secondary sexual characteristics, menstruation, and bone protection. Pregnancy is possible using donor eggs, but requires careful evaluation of the heart and aorta. Observation continues into adulthood with an endocrinologist, cardiologist and gynecologist.
- Growth hormone therapy in childhood
- Estrogen replacement therapy from adolescence
- Adding progestogens to form a cycle
- Regular monitoring of the heart and aorta
- Control of thyroid, glucose and bone density
- Hearing monitoring and correction for hearing loss
- Consultation with a reproductive specialist when planning pregnancy
- Psychological support for a teenager