Understanding Gonadal dysgenesis: Causes, Symptoms, and Management

What is it?

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.
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.

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Additional names

This group contains additional names:
- Turner Syndrome

Signs & 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, several physical features 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. Failure of the ovaries to develop may occur at 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 females with Turner syndrome, inability to conceive a child without fertility treatment

Diagnosis

If, based on signs and symptoms, the doctor suspects that your child has Turner syndrome, a lab test will be done to analyze your child's chromosomes. The test involves a blood sample. Occasionally, your doctor may also request a cheek scraping (buccal smear) or skin sample. The chromosome analysis determines whether or not there is a missing X chromosome or a change in one of the X chromosomes.

Treatment

Because symptoms and complications vary, treatments are tailored to address the individual's specific problems. Evaluation and monitoring for medical or mental health issues associated with Turner syndrome throughout life can help to address problems early.
The primary treatments for nearly all girls and women with Turner syndrome include hormone therapies:
* Growth hormone.
* Estrogen therapy.
Other treatments are tailored to address particular problems as needed. Regular checkups have shown substantial improvements in the health and quality of life for girls and women with Turner syndrome.

☝️ This is not a substitute for professional medical advice. Please consult with your physician before making any medical decision.

Learn more about our editorial process for content accuracy.

Source of Information - We analyze big data of more than 23 million patients de-identified medical records from the following sources:

National Institution of Health ∙ World Health Organization ∙ University of Illinois hospital