Monosomy X syndrome

Monosomy X syndrome, more commonly known as Turner syndrome, is a chromosomal condition that affects females in which one of the two X chromosomes is completely or partially missing. The condition is typically caused by a sporadic error in cell division and is not usually inherited from a parent. Turner syndrome affects multiple body systems, with hallmark features including short stature and ovarian dysgenesis (underdeveloped or nonfunctional ovaries), which leads to delayed puberty and infertility in most cases. Other common features include a broad or webbed neck, low posterior hairline, lymphedema of the hands and feet at birth, shield-shaped chest with widely spaced nipples, and skeletal abnormalities such as cubitus valgus. Turner syndrome is also associated with significant cardiovascular abnormalities, including bicuspid aortic valve, coarctation of the aorta, and aortic dilation, which require lifelong cardiac monitoring. Renal malformations, such as horseshoe kidney, are frequently observed. Affected individuals may experience recurrent otitis media and sensorineural hearing loss. Autoimmune conditions, particularly hypothyroidism and celiac disease, occur at increased rates. While cognitive ability is generally normal, some individuals may have difficulties with visuospatial processing, mathematics, and social cognition. Management of Turner syndrome is multidisciplinary. Growth hormone therapy is a standard treatment to improve final adult height and is typically initiated in early childhood. Estrogen replacement therapy is used to induce puberty and maintain bone health, cardiovascular health, and overall well-being. Regular monitoring of cardiac, renal, thyroid, and metabolic function is essential throughout life. Assisted reproductive technologies may be available for some individuals wishing to have children. With appropriate medical care and surveillance, most individuals with Turner syndrome lead healthy and fulfilling lives.

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