Clinical practice in Turner syndrome.

Area of Science:

• Genetics
• Endocrinology
• Pediatrics

Background:

• Turner syndrome (TS) is a genetic disorder affecting approximately 50 per 100,000 liveborn girls, characterized by partial or complete absence of a sex chromosome.
• TS is associated with reduced adult height, gonadal dysgenesis, infertility, and increased morbidity and mortality, though intellectual performance is typically normal.

Purpose of the Study:

• To review recent insights into the epidemiology, genetics, and associated medical conditions of Turner syndrome.
• To discuss current understanding and management of TS, including growth hormone therapy, puberty induction, and hormone replacement therapy (HRT).

Main Methods:

• Review of recent scientific literature concerning Turner syndrome.
• Synthesis of current knowledge on TS pathophysiology, clinical manifestations, and management strategies.

Main Results:

• Elucidation of short stature homeobox protein deficiency explains short stature in TS.
• Growth hormone therapy can improve adult height, but long-term effects are unclear.
• Individuals with TS have elevated risks for numerous conditions, including diabetes, hypothyroidism, osteoporosis, and cardiovascular diseases.

Conclusions:

• Turner syndrome necessitates lifelong medical attention and management of associated health risks.
• Optimal hormone replacement therapy (HRT) and its long-term benefits/drawbacks require further evaluation.
• There is a need for established diagnostic guidelines for Turner syndrome.