Question 1

What is the Meaning of Turner Syndrome?

Accepted Answer

Turner Syndrome is a chromosomal condition in females, characterized by complete or partial absence of one X chromosome, typically 45,X monosomy. This genetic alteration impacts development, primarily affecting growth, ovarian function, and various organ systems. It arises from a spontaneous error in cell division.

Question 2

What is the Context of Turner Syndrome?

Accepted Answer

This genetic anomaly originates during gamete formation or early embryonic development, making it congenital. It exclusively affects chromosomally female individuals due to X sex chromosome involvement. Understanding its genetic basis within human cytogenetics is crucial for comprehending systemic physiological effects.

Question 3

What is the Significance of Turner Syndrome?

Accepted Answer

Clinically, Turner Syndrome is significant due to its broad manifestations: short stature, primary ovarian insufficiency, and higher predisposition to medical conditions. Early diagnosis allows for timely therapeutic interventions like growth hormone and hormone replacement, improving quality of life and mitigating long-term health risks. Its recognition guides comprehensive patient care.

Question 4

What is the Mechanism of Turner Syndrome?

Accepted Answer

The core mechanism involves haploinsufficiency, where a single functional copy of X-linked genes is insufficient for normal development. Absence of a second X chromosome leads to accelerated oocyte loss, resulting in streak gonads and impaired estrogen production. Genes within the pseudoautosomal region, such as SHOX, contribute to characteristic short stature.

Question 5

What is the Application of Turner Syndrome?

Accepted Answer

Management protocols for Turner Syndrome routinely incorporate growth hormone administration during childhood to optimize adult height. Estrogen replacement therapy is initiated at the appropriate age to induce puberty, maintain secondary sexual characteristics, and support bone health. Ongoing surveillance for cardiovascular, renal, and thyroid dysfunction is integral for holistic well-being.

Question 6

What is the Metric of Turner Syndrome?

Accepted Answer

Diagnosis of Turner Syndrome is definitively established through karyotype analysis, identifying 45,X or mosaic patterns. Monitoring involves regular anthropometric measurements plotted on Turner Syndrome-specific growth charts. Pubertal progression is assessed via Tanner staging, and endocrine evaluation includes serum gonadotropin and estradiol levels. Cardiac imaging and renal ultrasounds are standard diagnostic metrics for associated systemic conditions.

Question 7

What is the Risk of Turner Syndrome?

Accepted Answer

Individuals with Turner Syndrome face elevated risk of specific health complications if not properly managed. These include congenital heart defects, particularly bicuspid aortic valve and coarctation of the aorta, necessitating vigilant cardiac monitoring. Renal abnormalities, hypertension, hearing loss, and autoimmune conditions like Hashimoto's thyroiditis are prevalent. Infertility is common, and untreated estrogen deficiency increases osteoporosis risk, underscoring continuous medical oversight.

Turner Syndrome

Meaning

Context

Significance

Mechanism

Application

Metric

Risk

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