Journal of Down Syndrome & Chromosome Abnormalities
Open Access

Diagnosis and Management of Abnormalities of X Chromosome in Females

Tudorascu Shorena^{* *}Correspondence: Tudorascu Shorena, Department of Genetics, University of Montevideo, Montevideo, Uruguay, Email:

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Description

Turner Syndrome is a rare genetic condition that affects females, occurring in approximately 1 in every 2,000 to 2,500 live female births. Named after Henry Turner, the endocrinologist who first described it in 1938, Turner Syndrome results from a partial or complete absence of one of the two X chromosomes that typically determine female sex. This chromosomal abnormality leads to a wide range of developmental and medical issues, impacting various aspects of a person's life. This study discusses into the causes, symptoms, diagnosis and management of Turner Syndrome.

Causes

The primary cause of Turner Syndrome is the absence or abnormalities of one of the X chromosomes in females. While females typically have two X chromosomes (XX), those with Turner Syndrome have only one normal X chromosome or they may have one normal X chromosome and the other one is either missing or structurally altered. This chromosomal anomaly occurs randomly during the formation of reproductive cells in either parent or early embryonic development.

Symptoms

The manifestations of Turner Syndrome vary widely among affected individuals and some may only have mild features while others may have more severe complications. Common symptoms and features associated with Turner Syndrome include:

Short stature: Girls with Turner Syndrome often have slow growth and may be shorter than average.

Gonadal dysfunction: Most girls with Turner Syndrome have underdeveloped or dysfunctional ovaries, leading to infertility and absence of menstrual periods.

Physical features: These may include a webbed neck, low hairline at the back of the neck, drooping eyelids, puffiness or swelling of the hands and feet and a small lower jaw [1].

Congenital heart defects: Approximately one-third of girls with Turner Syndrome are born with heart abnormalities, such as aortic coarctation or bicuspid aortic valve.

Renal abnormalities: Some individuals may have kidney abnormalities, which can lead to urinary tract infections or kidney failure.

Hearing loss: Conductive or sensorineural hearing loss can occur in individuals with Turner Syndrome.

Learning disabilities: Some girls may experience difficulties with spatial relationships, math and certain social skills [2].

Diagnosis

Diagnosing Turner Syndrome typically involves a combination of physical examination, medical history and genetic testing. Some common diagnostic tests include:

Karyotype analysis: This test examines the chromosomes to determine if there areany abnormalities, such as missing or altered X chromosomes.

Hormone testing: Blood tests can assess hormone levels, such as estrogen, Follicle-Stimulating Hormone (FSH) and Luteinizing Hormone (LH), which may be indicative of ovarian function [3].

Imaging studies: Ultrasounds or Magnetic Resonance Imaging (MRI) may be performed to evaluate the heart, kidneys and other organs for abnormalities.

Management

While there is no cure for Turner Syndrome, early intervention and management can help address many of the associated medical and developmental issues. Treatment and management strategies may include:

Growth hormone therapy: Growth hormone injections can help improve growth in girls with Turner Syndrome, increasing final adult height.

Estrogen replacement therapy: Estrogen replacement therapy is often initiated at puberty to induce secondary sexual characteristics, promote bone health and support overall development.

Cardiac monitoring: Regular cardiac evaluations are recommended to monitor for any heart abnormalities and intervene as necessary.

Reproductive options: Fertility preservation options, such as oocyte or embryo cryopreservation, may be considered for individuals with Turner Syndrome who wish to have biological children in the future.

Educational support: Children with Turner Syndrome may benefit from educational interventions and support services to address any learning disabilities or developmental delays [4].

Conclusion

Turner Syndrome is a complex genetic condition that affects various aspects of an individual's health and development. While there is no cure, early diagnosis, comprehensive medical care and supportive interventions can greatly improve outcomes and quality of life for those affected by this condition. Ongoing studies and advancements in medical management continue to enhance our understanding and treatment of Turner Syndrome, offering hope for a better future for individuals living with this rare disorder.

References

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