Stein syndrome

Stein syndrome: history, symptoms and treatment

Stein syndrome, named after American gynecologist J.F. Stein, is a rare medical condition that affects the female reproductive system. This syndrome is characterized by the presence of certain symptoms associated with hormonal imbalances and abnormalities of the internal genital organs.

Stein syndrome usually appears during a woman's adolescence or early adult life. One of the main symptoms of this syndrome is amenorrhea, that is, absence of menstruation. This may be caused by an immature uterus, missing ovaries, or other structural abnormalities of the genitals.

In addition to amenorrhea, women with Stein syndrome may experience other symptoms. They may experience lower abdominal pain, excess facial and body hair growth (hirsutism), acne, vocal changes, and an increase in the size of the clitoris. These symptoms are associated with hyperandrogenism, that is, increased levels of male sex hormones in the body.

The diagnosis of Stein syndrome is usually made based on clinical symptoms and laboratory results. It is important to exclude other possible causes of amenorrhea and symptoms of hyperandrogenism, such as polycystic ovaries or adrenal hyperplasia.

Treatment for Stein syndrome is aimed at managing symptoms and maintaining a woman's reproductive health. In some cases, hormone therapy may be required to restore the menstrual cycle and reduce the level of male sex hormones. Surgery may be necessary to correct structural abnormalities of the genitals or eliminate tumors.

Women with Stein syndrome may also need psychological support or pregnancy planning counseling. In some cases, assisted reproduction methods such as artificial insemination or the use of donor eggs can be used.

Although Stein syndrome is a rare condition, early detection and adequate treatment can help a woman manage symptoms and maintain reproductive health. Regular visits to your gynecologist and following your doctor's recommendations can be important steps to achieving optimal results and maintaining quality of life for women with Stein syndrome.

In conclusion, Stein syndrome, named after J.F. Stein, is a rare gynecological condition characterized by hormonal imbalances and abnormalities of the genital organs in women. It manifests itself through various symptoms such as amenorrhea, hirsutism and hyperandrogenism. Diagnosis is based on clinical manifestations and laboratory tests. Treatment is aimed at managing symptoms, restoring the menstrual cycle, and maintaining reproductive health. Regular visits to the doctor and support from a psychologist can be helpful for women suffering from this syndrome.

Stein-Apelt syndrome (SADS) is a type of hereditary progressive encephalopathy accompanied by symptomatic epilepsy, intellectual disability and progressive ataxic paraparesis.

Stein-Apelt syndrome is inherited in an autosomal dominant manner, and the disease begins early - in the first decade of a person’s life. The disease is one of the variants of family dysphoria. Neurological manifestations include epilepsy, impaired motor coordination, ataxia, glossal automatism with the use of disordered movements; progressive intellectual impairment of varying degrees. Approximately 15-20% of patients also have visual impairment. In some cases, insufficiency of the speech apparatus is diagnosed. The causes of the disease are associated with inherited mutations in the SGCE gene, which is responsible for the synthesis of sugammatriptin, an important component of the presynaptic inhibitory synapse of the nervous system. This leads to disruption of the normal development and functioning of the brain, which is expressed in a set of symptoms of a different nature.