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Turner Syndrome

Turner Syndrome is a condition that affects only girls or women. Most people are born with two chromosomes. While a boy inherits the X chromosome from his mother and Y chromosome from his father, a girl inherits one X chromosome from each parent. In case of Turner syndrome, one copy of the X chromosome is missing or partially missing or is significantly changed.


Named after Henry Turner, the first doctor who reported it in 1938, Turner Syndrome is one of the most common chromosomal disorders and likely the most common genetic disorder of females.


Genetic alterations that causes Turner Syndrome

Monosomy: Complete absence of X chromosome - caused due to an error of father's sperm or in the mother's egg.

Mosaicism: An error that occurs in cell division during early stages of fetal development.

Y chromosome: In a small percentage of Turner Syndrome patients, some cells have only one copy of X chromosome and other cells have one copy of the X chromosome and some Y chromosome material. Though these individuals develop biologically as girls, due to the presence of Y chromosome material increase, the risk of developing a type of cancer called gonadoblastoma is present.

Turner Syndrome can cause a variety of medical problems. Short height, puberty failure, infertility, heart defects and learning disabilities and social adjustment problems are some of the prominent signs of this syndrome. Family history is not a risk factor in this syndrome as it is quite unlikely that parents of one child with this syndrome will have another child with the same disorder.


Prenatal symptoms

Prenatal ultrasound of a baby with Turner Syndrome may reveal:


  • Heart abnormalities,
  • Large or abnormal fluid collection at the back of neck,
  • Kidney abnormalities.

Physical features of Turner Syndrome at birth and during infancy

A wide neck, receding small lower jaw, high narrow roof of the mouth, low-set ears, low hairline behind neck, broad chest with widely spaced nipples, short fingers and toes, arms that turn outward at the elbows, narrow and upward turned fingernails and toes, swelling of hands and feet at birth, smaller than average height at birth and delayed growth.


Physical features noticeable in girls in teens/ young women

There could be occurrences when Turner Syndrome is not quite apparent. Some noticeable features are: No growth spurts, short stature – less than might be expected for a female member of the family, learning disabilities especially that involve spatial concepts or math, inability to understand other people's emotions and social situations, absence of sexual changes expected during puberty due to ovarian failure, early end to menstrual cycles but not due to pregnancy, lack of sexual development during teenage years, inability to conceive a child without fertility treatment.


Diagnosis

Sometimes even during fetal development, diagnosis of this syndrome can be made. While ultrasound screening may raise suspicion of Turner Syndrome in the baby; prenatal screening tests that evaluate the baby's DNA in the mother's blood could also indicate an increased risk of this syndrome. Other than the characteristic physical features described above, Turner Syndrome may be diagnosed prenatally, before birth, during infancy or in early childhood, although sometimes the diagnosis might be delayed. It is imperative that girls and women with this syndrome undergo ongoing medical care from a variety of specialists and regular checkups and appropriate care are taken.


Clinical testing

Karyotyping is a laboratory test that evaluates the chromosomes which is usually the determining factor for Turner Syndrome. In most cases a blood sample is taken to ascertain a person's karyotype. This syndrome is increasingly diagnosed before birth based on chromosomal analysis subsequent to amniocentesis or Chorionic Villus Sampling CVS. A sample of fluid that surrounds the developing fetus is removed and analyzed. In CVS, it involves the removal of tissue samples from a portion of the placenta. Accumulation of lymph fluid near the neck of a developing fetus can sometimes be seen on a routine fetal ultrasound.


MRI is performed in those affected for the presence of symptoms potentially associated with Turner Syndrome such as liver, kidney and heart abnormalities. Complete cardiac workup including echocardiogram is done to assess the structure and function of the heart. Thyroid and liver function tests, hypertension screening is done. Children and adults require periodic evaluation for hearing also.


Complications arising out of Turner syndrome

Some of the complications arising out of this syndrome include:

Heart defects or slight abnormality in the heart structure that could increase the risk of serious complications. This could be defects in the main blood vessel leading out of the heart or increased risk of a tear in the inner layer of the aorta.

Women with Turner Syndrome can have increased risk of diabetes and high blood pressure. Hearing loss is also common among girls and women with this syndrome. Gradual loss of nerve function could be the reason for hearing loss in some. Slight abnormalities in the shape of the skull could also increase the risk of frequent middle ear infections.

Kidney problems are seen in one-third of girls with Turner Syndrome who have malformation of kidneys. This could increase pressure and urinary tract infections, although they do not necessarily cause medical problems.

Increased risk of certain immune disorders such as hypothyroidism can be seen in some women with this syndrome. This disorder results in low production of hormones that is important for controlling heart rate, growth and metabolism.

Diabetes, inflammatory Bowel Disease and intolerance to wheat are conditions that can be caused by Turner Syndrome. Poor and abnormal tooth development and greater risk of tooth loss or crowded teeth and poorly aligned bite are complications of this syndrome.

Girls with Turner Syndrome pose risk of increased vision problems, due to weak muscle control of eye movements and farsightedness. Bones are bound to get affected by this syndrome, with increased risk of abnormal curvature of the spine and forward rounding of the upper back. Osteoporosis is another common risk of this syndrome.


Though most women with this syndrome are infertile, a small number do get pregnant spontaneously, and others become pregnant with fertility treatment. But, there are instances where women with this syndrome are likely to experience failure of the ovaries and subsequent infertility very early in adulthood. A cardiologist intervention is essential before pregnancy as they are at increased risk of aortic dissection during pregnancy. They are also at increased risk of high blood pressure and gestational diabetes during pregnancy.

Some girls and women do have psychological issues due to Turner Syndrome with disabilities in math and spatial concepts, difficulties in social situations and increased risk of attention-deficit/hyperactivity disorder.


Treatment and medication

Since chromosomal abnormality causes this syndrome, as such there is no specific cure. However, researchers have developed a number of treatments that can help with growth problems. Growth hormone therapy is recommended for most girls with this syndrome. This is done to increase height as much as possible at appropriate times during childhood and teen years. Growth hormone is given by way of injections several times a week and if the height is really short, doctors recommend androgens in addition to growth hormone.


Estrogen therapy is administered in order to begin puberty and achieve adult sexual development. Estrogen is also given along with growth hormone. Estrogen therapy usually continues throughout life until average age of menopause.

In case of some women with Turner Syndrome, they can become pregnant with donation of an egg or embryo. A specially designed hormone therapy is necessary to prepare the uterus for pregnancy. And pregnancy can be high-risk with Turner Syndrome.


Management of Turner syndrome

Those affected are advised regular checkups which can improve the quality and length of life. Periodic checkups for hearing loss, eye problems, high blood pressure and diabetes and osteoporosis are imperative. Follow-up with a heart specialist is essential as are regular ultrasounds of the heart. Healthy lifestyle habits such as maintaining proper weight and exercising regularly are important throughout life.

And, although girls with Turner syndrome exhibit learning disabilities, most can attend school regularly, write well, learn by hearing, can memorize and develop reasonably good language skills.


Tips for those with Turner syndrome


  • Stay active in sports or hobbies.
  • Consider some voluntary work. Helping others can boost your self-esteem.
  • Talk to a professional therapist.
  • Discuss your problems with your parents if you think they can help.
  • Talk to your school counselor in case of any particular problem.
  • Record your feelings in a journal or diary about the challenges you are coping with.

Monosomy

Monosomy is a rare chromosome anomaly. Human cells normally contain 23 pairs of chromosomes, with a total of 46 chromosomes in each cell. Monosomy refers to the loss of one chromosome in cells. Any such change of chromosomes shall cause problems pertaining to growth, development and function of the body's systems. Monosomy is a genetic defect caused by an incomplete set of chromosomes. The changes in chromosomes occur during the formation of reproductive cells in early fetal development.


Monosomy can be identified during prenatal testing, especially in women who are at high risk. Prenatal testing such as an amniocentesis can reveal monosomy. As the test results could be very complicated, it is important to receive genetic counseling before undertaking this test. While a negative result indicates that no abnormalities were detected, a positive result suggests that a problem may be present. Since false positives and negatives can also happen, follow up additional testing is also recommended.


Aneuploidy is the term used to refer to chromosomal defects, a gain or loss of chromosomes from the normal 46. In monosomy, which is a kind of anueploid, there is the loss of one chromosome in cells. Another common form of aneuploidy is trisomy where people have three copies of a particular chromosome 21 in each cell instead of the two copies. One common example of the condition caused by trisomy is Down Syndrome.


Turner syndrome is a known example of the condition caused by monosomy. In this syndrome, women typically have only one X chromosome instead of the usual two. Significantly, Turner syndrome is the only full monosomy that is found in human beings. In other full monosomy, the individual will not survive development.


Cri du chat syndrome and 1p36 Deletion Syndrome are instances of partial monosomy caused by deletion of the short p arm of chromosome 5 and chromosome 1 respectively.


Chi du chat syndrome is characterized by a number of symptoms and in particular a malformed larynx which causes the voice to sound strangely high pitched. Chromosome 1p36 deletion syndrome is considered one of the commonest chromosome deletion syndromes. It is characterized by features such as developmental delay, feeding difficulties, low muscle tone, distinctive facial features, hearing loss, heart problems, seizures, vision defects and a large fontanelle that is slow to close. The incidence of monosomy 1p36 has been estimated to be 1 in 5000 to 1 in 10000 live born children. Interestingly, more females than males have been reported.


DSD

After childbirth, the usual and much awaited announcement from a midwife in the labor ward is - 'it's a boy' or 'it's a girl'. But there are instances when the midwife cannot determine the sex of the baby as the sex organs do not conform to defined norms of a male or a female. The baby is born with sex organs that aren't clearly male or female. There is ambiguity about the gender. The child is born with a disorder of sex development (DSD). In all probability the midwife may relate to the newborn as 'baby'. Here is a child diagnosed with DSD at birth.


An estimated 2,000 babies are born 'intersex' each year, referring to a set of over 60 different conditions that fall under the diagnosis of 'DSD' (Differences/Disorders of Sex Development). DSD occurs more often than Down syndrome or cystic fibrosis. In the last 15 years, there is more openness about DSD which has led to moving beyond the medical/biological realm. There is growing interest in gender studies as well.


From Intersex syndrome to DSD

Other terms in place of disorder of sex development are 'intersex' (between the sexes) or 'hermaphrodite' or 'pseudohermaphroditism'. International experts held a conference (International Consensus Conference on Intersex) in 2006 and have reached a consensus that the term DSD or disorder of sex development should replace all those terms.


Some people prefer to use terms like 'differences in sex development' or 'diversity of sex development'. There are three basic types of DSDs. These manifest in different ways. Understanding X and Y chromosomes can help in sorting out the types of DSDs.

Females have two X chromosomes (XX) in each cell. This is by inheriting one X chromosome from each parent. Two X chromosomes is medically written as Karyotype 46, XX. And males have an X chromosome and a Y chromosome (XY). This is by inheriting an X chromosome from the mother and a Y chromosome from the father. An XY is referred to as Karyotype 46, XY.

The Y chromosome helps make a boy as it contains the genes for the development of male organs like the testes and penis. This happens around the 6th week of fetal development. As the testes make testosterone, the penis, scrotum and urethra form. Between 7th and 8th month of the pregnancy, the testes descend into the scrotum. In the absence of the Y chromosome, the fetal tissue in a female fetus (XX) will form the female sex organs – the ovaries, uterus and the fallopian tubes.


Causes of disorder of Sex development

Through the many stages of sex development, if all is typical the fetus develops into a normal male or a female. But, if at any stage of sex development an atypical development takes place it results in a 'disorder of sex development. Like:


  • Influence of chromosome variations result in genetic disorders

  • Congenital issues (that are present at birth)

  • Genetic change that may or may not be inherited from a parent

  • Unknown exposure to certain medications or hormones during pregnancy

  • Problem during the development stage that prevents the production of enough hormones due to lack of blood flow to the ovaries or testes.

Types of DSDs


  • Sex chromosome DSD

  • 46, XY DSD

  • 46,XX DSD

Diagnostic approach to DSD

Diagnosis begins with determining the type of disorder of sex development. Physical examination, medical history of the mother's health during pregnancy and family history of any neo-natal deaths form part of the diagnosis. A biopsy of the reproductive organs is done where necessary.


  • Blood tests to check DNA and hormone levels

  • MRI to study internal structures like gonads

  • Ultrasound or direct Cystoscopy or vaginoscopy to take images of internal gonads.

  • MRI or CT, and a retrograde genitogram to assess the Müllerian structures and the kidneys.

  • Genital Urethrogram to look at the urethra and vagina, if present

  • Chromosomal analysis to determine the genetic sex (46 XX or 46 XY)

  • SRY Gene evaluation: An essential protein for sex termination in human males found on the Y chromosome. Also known as sex-determining region on Y, sex determining region protein, SRY_HUMAN, TDF, TDY or testis determining factor.

  • Endoscopy, laparoscopy and gonadal biopsy

  • Electrolyte tests such as sodium, potassium and glucose levels

  • Fertility test

  • Test to determine size and potential for growth of the penis in an undersized male pseudohermaphrodite

  • Test to analyze the ability of an internal reproductive organ to produce sex hormones for the gender chosen

  • Test to check possibility of future health conditions that may develop in the original reproductive organs

  • Test to determine the action of male or female hormones on the fetal brain.

Treatment of DSD

Treatment options are based on specific diagnosis and issues involved. Not restricted to medical treatment, it involves psychological support as well. Reconstructing external genitalia or removing internal genitalia are surgical procedures. In some cases, more than one surgery is needed.


  • Diagnostic evaluation, including examination, blood tests such as chromosome analysis and other genetic testing, and imaging (X-ray, ultrasound, MRI)

  • Psychosocial support

  • Genetic counseling

  • Medical management, including hormone treatment (hormone replacement and hormone suppression)

  • Surgical procedures when indicated

Surgical procedures for DSD

Not every DSD requires surgery. Medications may also be used to treat certain DSDs. Experts recommend waiting till adolescence to understand the individual's preference for identity. In children, surgery is necessary:


  • For a child born without an opening for urination and to remove risks of complication, a surgery for opening is essential.

  • A surgery to obtain a sample of the gonad to determine whether ovarian and/or testicular tissue, a biopsy and surgery is required.

  • A surgery to reduce the size of a large clitoris or surgery to remove a gonad that is at risk to develop cancer is important.

Feminizing surgery: Going by 'Chicago Consensus', Feminizing surgery should only be considered in cases of severe virilisation. Also, the emphasis should be on functional outcome rather than cosmetic appearance. An ongoing debate on Feminizing Surgery is the timing of the surgery. A section believes in performing early feminizing surgery. Yet another section advocate feminizing surgery in adolescence as the patient is involved in discussions and decision-making.


  • Clitoroplasty: Reduce the size of the clitoris

  • Labioplasty: surgical modification of the labia

  • Vaginoplasty: to create a vagina or enlarge an existing one.

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Collection of Pages - Last revised Date: November 15, 2019