Endocrine Abstracts

JOINT609

Background: Turner Syndrome (TS) is a chromosomal disorder characterized by the partial or complete loss of one X chromosome, affecting 1 in 2,500 females. TS often leads to hypogonadism, short stature, and cognitive deficits, particularly in visuospatial, memory, and executive functioning. These manifestations correlate with structural anomalies in the brain and hypothalamic-pituitary axis. Treatments with growth hormone (GH) and sex steroids aim to mitigate these effects, yet their impact on neuroanatomy and function requires further exploration.

Objectives: To evaluate the influence of Turner Syndrome and hypogonadism on brain and hypothalamic-pituitary structure and investigate the effects of GH and sex steroid therapies on mitigating these changes.

Methods: This structured review integrates data from studies conducted between 1990 and 2024. Analyses included magnetic resonance imaging (MRI) findings, hormonal profiling, and neuropsychological assessments. Sample sizes ranged from single case studies to large cohorts. Metrics included brain volume, pituitary structure, and cognitive outcomes, stratified by treatment regimens.

Detailed Results: 1. Structural Changes in TS: TS is associated with smaller parieto-occipital gray matter, reduced hippocampal volume, and alterations in basal ganglia and cerebellar regions (O’Donoghue et al., 2020).

2. Effects of Treatment:.

• GH therapy improves body composition, increases lean mass, and enhances metabolic profiles but has mixed effects on brain structure (Wang et al., 2020).

• Estrogen replacement therapy significantly improves white matter development and hypothalamic-pituitary axis normalization (Viuff et al., 2022).

3. Cognitive Outcomes: Working memory shows improvement with combined GH and oxandrolone therapy but no significant change with GH alone (Soliman et al., 2024).

Discussion: TS and hypogonadism profoundly impact neuroanatomy and the hypothalamic-pituitary axis. GH and sex steroid therapies offer substantial benefits, particularly when initiated early and tailored to individual needs. However, the risk of cardiovascular and metabolic complications necessitates careful monitoring.

Conclusion: GH and sex steroid therapies are pivotal in addressing the neurodevelopmental and hypothalamic-pituitary deficits in TS. Early and comprehensive treatment strategies significantly enhance structural and functional outcomes, underscoring the importance of individualized approaches.