Overview of Endocrine Dysfunction in Children with Turner Syndrome

Area of Science:

• Genetics
• Endocrinology
• Pediatrics

Background:

• Turner syndrome (TS) affects approximately 1 in 2000 females, characterized by the absence of a second sex chromosome.
• TS is associated with neurocognitive impairments and various medical conditions, including endocrinopathies, renal abnormalities, lymphedema, congenital heart disease, and celiac disease.
• TS patients exhibit significantly higher rates of endocrine disorders compared to the general population.

Purpose of the Study:

• To provide endocrinologists with a comprehensive overview of endocrine abnormalities in Turner syndrome.
• To outline the clinical presentation, diagnostic methods, and current management strategies for endocrine conditions in children with TS.

Main Methods:

• This is a narrative review.
• The review synthesizes current knowledge on the endocrine manifestations of Turner syndrome.

Main Results:

• Turner syndrome is linked to numerous endocrine issues, including short stature, ovarian insufficiency, autoimmune thyroid diseases, glucose dyshomeostasis, obesity, bone abnormalities, androgen deficiency, gonadoblastoma, and adrenal tumors.
• Endocrine disorders are prevalent in TS patients, necessitating specialized medical attention.

Conclusions:

• Endocrine abnormalities are a significant aspect of Turner syndrome, impacting various physiological systems.
• Effective management of these endocrine conditions is crucial for improving the health outcomes of individuals with TS.