Genetic Basis, Risk Factors, Complications, Prenatal Diagnosis, Management, and Genetic Counseling of Klinefelter Syndrome
Genetic Basis of Klinefelter Syndrome
Klinefelter Syndrome is a genetic disorder characterized by an additional X chromosome in males, leading to various physical and reproductive complications.
Genetic Basis, Risk Factors, Complications, Prenatal Diagnosis, Management, and Genetic Counseling of Klinefelter Syndrome
Genetic Basis of Klinefelter Syndrome
Klinefelter Syndrome (KS) is a genetic disorder characterized by an additional X chromosome in males (47,XXY). This condition arises due to nondisjunction during meiosis, leading to aneuploidy. The presence of an extra X chromosome affects testicular development and results in a range of clinical manifestations.
Risk Factors
- Maternal age: Advanced maternal age increases the risk of meiotic nondisjunction.
- Genetic predisposition: While not inherited, certain chromosomal instability syndromes may contribute.
Complications
KS is associated with hypogonadism, infertility, gynecomastia, and metabolic syndromes such as diabetes and osteoporosis.
Prenatal Diagnosis
Prenatal testing via amniocentesis or chorionic villus sampling (CVS) can confirm KS. Noninvasive prenatal testing (NIPT) is also available.
Management
Testosterone therapy, fertility treatment, and psychological support are key management strategies.
Genetic Counseling
Parents and affected individuals benefit from genetic counseling to understand prognosis and reproductive options.
Tags
Recommended Reads
Explore related articles that might interest you
Genetic Basis, Risk Factors, Complications, Prenatal Diagnosis, Management, and Genetic Counseling of Klinefelter Syndrome
Genetic Basis, Risk Factors, Complications, Prenatal Diagnosis, Management, and Genetic Counseling of Klinefelter Syndrome
Genetic Basis, Risk Factors, Complications, Prenatal Diagnosis, Management, and Genetic Counseling of Klinefelter Syndrome
Genetic Basis, Risk Factors, Complications, Prenatal Diagnosis, Management, and Genetic Counseling of Klinefelter Syndrome
Genetic Basis, Risk Factors, Complications, Prenatal Diagnosis, Management, and Genetic Counseling of Klinefelter Syndrome
HIV in Pregnancy: Screening, Risk Factors, and Management
