Mosaic Turner syndrome is a condition caused by the presence of a chromosomal deficiency that negatively affects a woman's sexual development. Caused by erroneous fetal cell division, this form of Turner syndrome usually manifests as an X chromosome deficiency or mutation. Mosaic Turner syndrome, which often induces additional developmental problems, requires lifelong treatment that usually includes hormone therapy and supportive care, such as regular checkups. Proactive measures are essential to promote some semblance of normalcy and delay the onset of potential complications, including sensory issues and compromised organ function.
Under normal circumstances, a boy inherits one X chromosome from his mother and one X chromosome from his father, resulting in a perfectly matching pair of X chromosomes. In the presence of mosaicism, the chromosomal composition of the child is significantly altered, resulting in a deficiency or alteration that is carried through his sex cells. This means that he can have one X chromosome, two complete X chromosomes, or a normal X chromosome paired with an altered one.
This form of Turner syndrome can often be diagnosed while the fetus is in the womb. Developmental abnormalities may be detected during the administration of a routine ultrasound, prompting additional diagnostic tests such as amniocentesis or chorionic villus sampling. The signs and symptoms of mosaic Turner syndrome can also occur during the first weeks and months of life.
A baby with this type of Turner syndrome may have a broad chest and neck, distended hands and feet, and drooping eyelids. Many with this condition are abnormally small at birth, especially in length, and may exhibit an underdeveloped lower jaw. Not all children born with this condition have symptoms early on, and they may only show signs of Turner syndrome during their teen years.
People with mosaic Turner syndrome often show growth retardation, presenting with short height and a pronounced absence of common prepubertal changes or meeting milestones of adolescent development. Due to the lack of estrogen, she may stabilize in her sexual development and experience an abrupt end to her menstruation in the absence of pregnancy. Other signs that may occur include learning, communication, and interpersonal difficulties. Girls and young women with Turner syndrome often experience learning difficulties, especially certain analytical concepts such as mathematics, and may present with flat affect or pronounced apathy.
Treatment for mosaic Turner syndrome focuses primarily on hormone therapy, including regular administration of somatropin, or human growth hormone, and estrogen. Estrogen administration is essential to promote proper physical development, as would normally occur during puberty. Women with this condition must often seek help from a fertility expert to conceive and are considered a high-risk pregnancy, although it should be noted that success generally depends on the functionality and condition of the individual's reproductive system.
Due to the extensive nature of potential complications, proactive lifelong medical care is essential to create some sense of normalcy and slow the progression of developing complications. Considering that Turner mosaic syndrome is a condition that can negatively affect a person's overall physical development, several of their body systems may demonstrate problems later in life. It is not uncommon for people with Turner syndrome to be born with a congenital heart defect that can increase their risk of cardiovascular problems in later life, including high blood pressure and heart disease. In addition, individuals can develop compromised immunity, psychological problems, and sensory difficulties, such as vision and hearing problems that can aggressively deteriorate and lead to loss of that sense.