Turner Syndrome: Genetic Basis, Risk Factors, Clinical Features, Complications, Prenatal Diagnosis, Management, and Genetic Counseling
Genetic Counseling for Turner Syndrome
Turner Syndrome is a genetic condition characterized by an absent or structurally abnormal X chromosome, leading to short stature and reproductive issues. Genetic counseling is essential for diagnosis, risk assessment, and guidance on management strategies.
Turner Syndrome: Genetic Counseling
Turner Syndrome (TS) is a genetic disorder characterized by the partial or complete absence of an X chromosome in females. Genetic counseling plays a crucial role in understanding the condition, assessing risk factors, and guiding families in managing TS effectively.
Genetic Basis
Turner Syndrome results from monosomy X (45,X) or mosaicism, affecting various genes responsible for growth, development, and reproductive function.
Risk Factors
- Absence or structural abnormalities in one X chromosome
- Genetic mutations affecting X-linked genes
- Non-heritable chromosomal nondisjunction
Clinical Features
- Short stature
- Ovarian insufficiency leading to infertility
- Cardiovascular anomalies
- Renal malformations
- Neurocognitive challenges
Complications
Individuals with TS may experience cardiovascular diseases, osteoporosis, and autoimmune disorders, requiring lifelong medical supervision.
Prenatal Diagnosis
Non-invasive prenatal testing (NIPT), amniocentesis, and chorionic villus sampling (CVS) can aid early detection of TS.
Management
Growth hormone therapy, estrogen replacement, and multidisciplinary care ensure optimal health outcomes.
Genetic Counseling for Turner Syndrome
Genetic counseling provides education on TS inheritance, reproductive options, and psychosocial support for affected individuals and families.
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