Definition
Turner syndrome outlines a complex genetic condition, the only target of which is female sex: the genetic makeup of the affected woman does not present the normal pairing of the two X chromosomes. Because of the peculiar alteration of the chromosome, Turner syndrome is defined also "monosomy X".
Causes
In women with Turner syndrome, the cells are completely or partially lacking an X chromosome.
To understand: healthy women inherit one X chromosome from their mother and one X chromosome from their father; thus, every cell in the human body is made up of two XX chromosomes. Women with Turner syndrome, on the other hand, have a single X chromosome that works per cell.
Symptoms
Turner syndrome alters the normal development of the subject, both before and after birth: in most of the affected women, peculiar and common characteristics are observed, such as low stature, learning deficits and ovarian failure. The other signs that unite most of the females affected by Turner syndrome are: amenorrhea, wide neck, pain during intercourse, swelling of hands and feet, failure of pubic hair growth, dry eye, vaginal dryness, small breast or flat chest.
- Complications: diabetes, hearing disorders, hypertension, osteoporosis, reduction in life span
Information on Turner Syndrome - Drugs for the Treatment of Turner Syndrome is not intended to replace the direct relationship between health professional and patient. Always consult your doctor and / or specialist before taking Turner Syndrome - Drugs for the treatment of Turner syndrome.
drugs
Most girls with Turner syndrome need specific medications and regular checks to improve their quality of life: only by taking targeted drugs and regularly undergoing routine analysis can affected women enjoy some independence.
The administration of drugs formulated with the growth hormone may favor the development of the child affected by Turner syndrome during adolescence; even hormone replacement therapy - to be started at the age of 12 to 13 years of the girl - can certainly improve the physical presence of the patient, favoring the growth of the breast, pubic hair and all other sexual characteristics that mark the development of a woman. Hormone replacement therapy (with estrogen and progesterone) should be followed for life, until reaching the age indicative of menopause.
In addition to pharmacological treatments, additional parallel therapies are available:
- Sex education: it is estimated that some women with Turner syndrome can conceive a (healthy) child in a natural way. In this regard, information on contraceptive practices is important
- Psychological therapies: many women with Turner syndrome, aware of their disorder, tend to have low self-esteem and suffer from depression. The administration of drugs for the treatment of anxiety and for the treatment of depression can sometimes be a valid aid to improve the quality of life and interpersonal relationships.
- Assisted reproduction: some women with Turner syndrome cannot conceive children, except with the aid of assisted fertilization
- Physiotherapy and elastic stockings: it is observed that a good part of patients with Turner syndrome complains of swollen ankles and legs. In this case, we recommend using elastic stockings to manage lymphedema
- Somatropin (Omnitrope, NutropinAq): the drug is formulated with the growth hormone: the precise dosage should be customized by the doctor on the basis of body weight and the severity of the syndrome. Somatropin is administered once a day (preferably in the evening) subcutaneously: it is advisable to change the injection site frequently in order to avoid lipoatrophy. It appears that regular intake of the drug can promote growth of the female up to 10 cm. The treatment should be started, approximately, around 12-24 months of age, in girls in whom the diagnosis of Turner syndrome has been confirmed. The drug is often used in combination with anabolic steroids.
- Oxandrolone (eg. Anavar): the drug - also used in therapy for the treatment of alcoholic hepatitis - belongs to the pharmacological class of androgens and anabolic steroids. Estrogens are very important for ensuring bone integrity in patients with Turner syndrome. Women with Turner syndrome who have not had spontaneous or puberty-free puberty have a very high risk of contracting osteoporosis. Oxandrolone has poor androgenic properties but has marked anabolic capacity: it is recommended to start therapy for Turner syndrome with a (approximate) dosage of 0.125 mg / kg per day; then continue with 0.0625 mg / kg per day. It is believed that the association of oxandrolone with growth hormone (GH) favors a more rapid growth, estimated at around 7-10 cm per year: from medical statistics it emerges that GH monotherapy favors 2-4 cm growth less than the combination therapy with oxandrolone. Furthermore, it is important to emphasize that the use of drugs such as oxandrolone also favors the development of secondary sexual characteristics in females affected by Turner syndrome.
