May-Thurner syndrome (or Turner syndrome) is a genetic disorder associated with developmental and functional abnormalities of the female genital organs. It is associated with the absence or partial abnormality of one of the X chromosomes, which leads to various ailments and disruption of sexual and physical development. Patients with May-Thurner syndrome may exhibit such manifestations as dwarfism, hypoplasia of the genitals, incomplete development of secondary sexual characteristics, and many other associated abnormalities. The pathology may also affect the functioning of other systems and organs, including the cardiovascular and urogenital systems, which requires a comprehensive approach to diagnosis and treatment.
History of the disease and interesting historical facts
May-Thurner syndrome was first described in 1938 by the American physician Edward May and was subsequently named after the Swedish physician Heinrich Turner. Since then, much data has been collected on the clinical manifestations and ethology of the disease. Interestingly, the syndrome previously had many informal names, such as "growth arrest" or "short woman syndrome." In the decades since the syndrome's discovery, researchers have begun to understand its genetic nature, adding new insights into the long-term consequences and the importance of early diagnosis.
Epidemiology
May-Thurner syndrome is one of the most common chromosomal disorders in women, with an estimated incidence of approximately 1 in 2,500 to 3,000 female births. The disorder occurs in all populations worldwide, regardless of ethnicity. It is typically diagnosed in childhood and adolescence, but many cases remain unrecognized until adulthood.
Genetic predisposition to this disease
May-Thurner syndrome is caused by abnormalities in the X chromosomes, most commonly in the form of monosomy (loss of one of the chromosomes). This can occur due to improper division
