Turner syndrome

Turner syndrome is a rare genetic disorder that affects only females, resulting in a wide range of symptoms and distinctive characteristics.

Key Features:

• Short stature: Females with Turner syndrome tend to be shorter than average [1][2].
• Differences in sexual development: Individuals with Turner syndrome may experience delayed or absent puberty, and may not develop secondary sex characteristics [3][4].
• Physical characteristics: Common physical features include a webbed neck, high palate, and other distinctive facial features [5].

Causes and Effects:

Turner syndrome is caused by the absence or partial absence of one X chromosome in females. This genetic disorder affects development in people who are assigned female at birth, leading to various symptoms and characteristics [2][6]. The condition can have a significant impact on an individual's physical and emotional well-being.

References:

[1] Context result 9: Turner syndrome is a chromosomal condition that alters development in females. Women with this condition tend to be shorter than average and may experience other developmental delays. [2] Context result 2: Females typically have two X chromosomes, but individuals with Turner syndrome have only one X chromosome or a partially missing X chromosome. [3] Context result 4: Common features of Turner syndrome include short stature, differences in sexual development, and certain physical characteristics. [4] Context result 5: Disease Overview. Summary. Turner syndrome is a rare chromosomal disorder that is caused by a partial or complete loss (monosomy) of an X chromosome. [5] Context result 6: Turner syndrome symptoms include a webbed neck and high palate, among other distinctive characteristics. [6] Context result 8: The cause of Turner syndrome is a missing or incomplete X chromosome.

Turner syndrome is a genetic disorder that affects females, and it can have various signs and symptoms. Here are some of the common features associated with Turner syndrome:

• Short stature: This is one of the most common signs of Turner syndrome, and it becomes evident by about age 5 [5]. Girls with Turner syndrome tend to be shorter than their peers, and this can continue into adulthood.
• Physical differences: Individuals with Turner syndrome may have physical features that are different from those of typical females. These can include:
  • Short fingers and toes [3]
  • Swollen hands and feet in infants [3]
  • Narrow nails that turn upward [3]
  • A broad and flat chest, with nipples that appear more widely spaced [3]
• Reproductive issues: Turner syndrome can affect reproductive development, leading to:
  • Short stature and ovarian insufficiency due to ovarian failure [1]
  • Delayed or absent puberty [4]
  • Infertility or difficulty conceiving [4]
• Other symptoms: Turner syndrome can also cause a range of other symptoms, including:
  • Cardiovascular problems, such as high blood pressure and heart defects [8]
  • Kidney issues, such as kidney disease or failure [8]
  • Osteoporosis, which can increase the risk of fractures [4]
  • Diabetes, particularly type 2 diabetes [4]

It's essential to note that not all individuals with Turner syndrome will exhibit all of these symptoms, and the severity of the condition can vary widely from person to person. If you suspect that someone may have Turner syndrome, it's crucial to consult a healthcare professional for an accurate diagnosis and guidance on next steps.

References: [1] Context result 1 [2] Not applicable (this number was not used) [3] Context result 3 [4] Context result 4 [5] Context result 5 [6] Not applicable (this number was not used) [7] Not applicable (this number was not used) [8] Context result 8

Turner syndrome can be diagnosed through various diagnostic tests, which are typically conducted to confirm the chromosomal characteristics of a female's body.

• Prenatal testing: Turner syndrome may be suspected during pregnancy using prenatal cell-free DNA screening or certain features detected on prenatal ultrasound screening. Prenatal diagnostic testing, such as amniocentesis or chorionic villus sampling (CVS), can confirm the diagnosis [1][2].
• Karyotype analysis: A genetic blood test called a karyotype is used to determine the chromosomal characteristics of a female's body. This test will show if one of the X chromosomes is partially or completely missing, confirming Turner syndrome [3][4].
• Chorionic villus sampling (CVS): CVS can be performed between 10-13 weeks of gestation and involves taking a sample from the placenta to analyze for chromosomal abnormalities, including Turner syndrome [5].
• Amniocentesis: Amniocentesis is another prenatal test that can diagnose Turner syndrome by analyzing the amniotic fluid surrounding the fetus. This test is typically performed after 13 weeks of gestation [6].

It's worth noting that a diagnosis of Turner syndrome can also be made postnatally, usually during childhood or at puberty, through karyotype analysis and physical examination [7][8].

Turner syndrome is a genetic condition that affects females, and while there is no cure, various drug treatments can help manage its symptoms.

Hormone Replacement Therapy

One of the primary treatment options for Turner syndrome is hormone replacement therapy (HRT). This involves administering estrogen to promote puberty and development in young women with TS. According to [7], starting estrogen therapy around age 11 or 12 is common, as it helps stimulate pubertal development.

Growth Hormone Therapy

Another important treatment for Turner syndrome is growth hormone (GH) therapy. As mentioned in [5], GH therapy can help normalize height in individuals with TS. The U.S. Food and Drug Administration (FDA) has approved the use of recombinant GH for the treatment of children with Turner syndrome.

Estrogen Replacement Therapy

In addition to HRT, estrogen replacement therapy (ERT) is also used to treat Turner syndrome. ERT can help alleviate symptoms such as short stature and sexual development problems [8]. Starting hormone injections in early childhood can often increase adult height by a few inches.

Other Treatments

While not directly related to drug treatment, it's worth noting that other treatments like thyroid hormone replacement therapy may also be necessary for individuals with Turner syndrome. As stated in [3], hypothyroidism is common with TS and is treated similarly to any other case of hypothyroidism.

In summary, the drug treatment options for Turner syndrome include:

• Hormone replacement therapy (HRT) to promote puberty and development
• Growth hormone (GH) therapy to normalize height
• Estrogen replacement therapy (ERT) to alleviate symptoms like short stature and sexual development problems

These treatments can help manage the symptoms of Turner syndrome, but it's essential to note that each individual's treatment plan may vary depending on their specific needs and health status.

Turner syndrome can be challenging to diagnose due to its variable presentation, but it can be differentiated from other similar conditions through a combination of clinical and laboratory findings.

Key differences:

• Turner syndrome (monosomy X): Characterized by the partial or complete absence of one X chromosome (45,X karyotype). Common symptoms include short stature, premature ovarian failure, and congenital heart defects.
• Noonan syndrome: A genetic disorder that affects 1 in 1,000 to 1 in 2,500 people. It is characterized by a distinctive facial appearance, short stature, and heart defects. While it can share some similarities with Turner syndrome, Noonan syndrome has distinct clinical features, such as webbed neck and low-set ears.
• Down Syndrome: A genetic disorder caused by an extra copy of chromosome 21 (trisomy 21). It is characterized by intellectual disability, delayed speech, and distinctive physical features, such as a flat face and short neck. Down syndrome can be differentiated from Turner syndrome through its distinct clinical features and chromosomal abnormalities.
• Klinefelter syndrome (XXY): A genetic disorder that affects males, characterized by an extra X chromosome. It is associated with infertility, tall stature, and learning difficulties.
• Cri-du-chat syndrome (5p-): A rare genetic disorder caused by a deletion of part of the short arm of chromosome 5. It is characterized by a high-pitched cry in infancy, intellectual disability, and distinctive physical features.

Diagnostic criteria:

To diagnose Turner syndrome, clinicians use a combination of clinical evaluation, karyotyping (chromosome analysis), and molecular testing. The diagnostic criteria for Turner syndrome include:

• Short stature
• Premature ovarian failure
• Congenital heart defects
• Physical characteristics such as webbed neck or low-set ears

Differential diagnosis:

When differentiating Turner syndrome from other conditions, clinicians consider the following factors:

• Chromosomal abnormalities (e.g., karyotype analysis)
• Clinical features (e.g., short stature, premature ovarian failure)
• Molecular testing (e.g., FISH or PCR for specific genetic markers)

By considering these factors and using a combination of clinical evaluation and laboratory tests, clinicians can accurately diagnose Turner syndrome and differentiate it from other similar conditions.

References:

• [8] Aug 18, 2020 — Turner syndrome must be differentiated from other similar conditions which lead to multiple endocrine disorders such as autoimmune polyendocrine ...
• [12] Clinical and laboratory evidences assure an unequivocal identity to the syndrome described by Noonan. We believed that the terminology used by many authors has contributed to maintain confusion with Turner's syndrome from which it is clearly differenciated.
• [11] Differential Diagnosis[edit | edit source] Edward's Syndrome Down Syndrome Turner syndrome (monosomy X) Klinefelter syndrome (XXY) Cri-du-chat syndrome (5p-)