Zoology Notes On – Turner Syndrome – For W.B.C.S. Examination.

প্রাণীবিদ্যা নোট – টার্নার সিন্ড্রোম – WBCS পরীক্ষা।

Turner syndrome, a condition that affects only females, results when one of the X chromosomes (sex chromosomes) is missing or partially missing. Turner syndrome can cause a variety of medical and developmental problems, including short height, failure of the ovaries to develop and heart defects.Continue Reading Zoology Notes On – Turner Syndrome – For W.B.C.S. Examination.

Turner syndrome may be diagnosed before birth (prenatally), during infancy or in early childhood. Occasionally, in females with mild signs and symptoms of Turner syndrome, the diagnosis is delayed until the teen or young adult years.

Girls and women with Turner syndrome need ongoing medical care from a variety of specialists. Regular checkups and appropriate care can help most girls and women lead healthy, independent lives.

Symptoms

Signs and symptoms of Turner syndrome may vary among girls and women with the disorder. For some girls, the presence of Turner syndrome may not be readily apparent, but in other girls, a number of physical features and poor growth are apparent early. Signs and symptoms can be subtle, developing slowly over time, or significant, such as heart defects.

Before birth

Turner syndrome may be suspected prenatally based on prenatal cell-free DNA screening ― a method to screen for certain chromosomal abnormalities in a developing baby using a blood sample from the mother ― or prenatal ultrasound. Prenatal ultrasound of a baby with Turner syndrome may show:

• Large fluid collection on the back of the neck or other abnormal fluid collections (edema)
• Heart abnormalities
• Abnormal kidneys

At birth or during infancy

Signs of Turner syndrome at birth or during infancy may include:

• Wide or weblike neck
• Low-set ears
• Broad chest with widely spaced nipples
• High, narrow roof of the mouth (palate)
• Arms that turn outward at the elbows
• Fingernails and toenails that are narrow and turned upward
• Swelling of the hands and feet, especially at birth
• Slightly smaller than average height at birth
• Slowed growth
• Cardiac defects
• Low hairline at the back of the head
• Receding or small lower jaw
• Short fingers and toes

In childhood, teens and adulthood

The most common signs in almost all girls, teenagers and young women with Turner syndrome are short stature and ovarian insufficiency due to ovarian failure that may have occurred by birth or gradually during childhood, the teen years or young adulthood. Signs and symptoms of these include:

• Slowed growth
• No growth spurts at expected times in childhood
• Adult height significantly less than might be expected for a female member of the family
• Failure to begin sexual changes expected during puberty
• Sexual development that “stalls” during teenage years
• Early end to menstrual cycles not due to pregnancy
• For most women with Turner syndrome, inability to conceive a child without fertility treatment.The genetic alterations of Turner syndrome may be one of the following:
  • Monosomy. The complete absence of an X chromosome generally occurs because of an error in the father’s sperm or in the mother’s egg. This results in every cell in the body having only one X chromosome.
  • Mosaicism. In some cases, an error occurs in cell division during early stages of fetal development. This results in some cells in the body having two complete copies of the X chromosome. Other cells have only one copy of the X chromosome.
  • X chromosome abnormalities. Abnormal or missing parts of one of the X chromosomes can occur. Cells have one complete and one altered copy. This error can occur in the sperm or egg with all cells having one complete and one altered copy. Or the error can occur in cell division in early fetal development so that only some cells contain the abnormal or missing parts of one of the X chromosomes (mosaicism).
  • Y chromosome material. In a small percentage of Turner syndrome cases, some cells have one copy of the X chromosome and other cells have one copy of the X chromosome and some Y chromosome material. These individuals develop biologically as female, but the presence of Y chromosome material increases the risk of developing a type of cancer called gonadoblastoma.

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