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Turner syndrome

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Turner syndrome is a genetic disorder that affects females and is typically characterized by the absence or partial absence of one of the X chromosomes (monosomy X). This condition can lead to a range of physical and developmental features. It is usually diagnosed in childhood, but its severity can vary among individuals. Here are key points to understand about Turner syndrome in children:

Genetic Basis:

  • Turner syndrome results from a chromosomal abnormality in which one of the X chromosomes is missing or structurally altered. Instead of the usual 46 chromosomes (45 autosomes and 1 sex chromosome XX or XY), individuals with Turner syndrome have 45 chromosomes, with only one X chromosome (45,X) being present in most cases.

Physical Characteristics:

  • Children with Turner syndrome may have certain physical features, including:
    • Short stature: Girls with Turner syndrome are typically shorter than their peers.
    • Webbed neck: Some may have extra folds of skin on the neck.
    • Low-set ears.
    • Puffy hands and feet.
    • A broad chest with widely spaced nipples.
    • Swelling of the hands and feet at birth (lymphedema).
    • Cysts on the ovaries (gonadal dysgenesis), which leads to infertility.

Developmental and Health Concerns:

  • In addition to physical features, Turner syndrome can lead to developmental and health issues, such as:
    • Delayed puberty: Girls with Turner syndrome do not undergo normal puberty without hormone replacement therapy.
    • Fertility issues: Most individuals with Turner syndrome are infertile, but advances in reproductive technology may offer options for some.
    • Heart and kidney problems: Some girls may have structural heart defects and kidney abnormalities.
    • Hearing loss: Sensorineural hearing loss can occur in some cases.
    • Learning disabilities: Some children with Turner syndrome may experience difficulties with certain cognitive tasks.
    • Social and emotional challenges: Girls with Turner syndrome may benefit from support and counseling to address self-esteem and social issues.

Diagnosis:

  • Turner syndrome is often diagnosed during infancy or early childhood based on physical features and a karyotype test, which analyzes a sample of blood or other tissues to examine the chromosomes.

Treatment and Management:

  • The management of Turner syndrome may involve:
    • Growth hormone therapy: To help improve growth and final adult height.
    • Estrogen and progesterone replacement therapy: To induce puberty and develop secondary sexual characteristics.
    • Monitoring and management of heart, kidney, and other health issues as needed.
    • Educational and psychological support to address developmental and social challenges.

Long-Term Outlook:

  • With appropriate medical care and support, most girls with Turner syndrome can lead healthy and fulfilling lives.
  • Early diagnosis and intervention are crucial to address growth and developmental concerns effectively.

Families of children with Turner syndrome should work closely with pediatric endocrinologists, geneticists, and other specialists to create a personalized care plan that addresses the individual needs and challenges associated with the condition. Early diagnosis and a multidisciplinary approach to care can help children with Turner syndrome thrive and reach their full potential.

The Pediatric.me content is provided for informational purposes only and is not intended as medical advice or as a substitute for medical advice of a physician