[Optimizing estrogen treatment in Turner syndrome]

Area of Science:

• Pediatric Endocrinology
• Genetics and Genetic Diseases
• Reproductive Medicine

Background:

• Turner syndrome (TS) affects individuals with a missing or partially missing X chromosome, often leading to delayed or absent puberty and short stature.
• Optimizing final adult height and achieving successful feminization are critical treatment goals in TS management.
• Previous approaches to growth promotion in TS, including early estrogen therapy, have shown limited efficacy in improving final height.

Purpose of the Study:

• To evaluate the efficacy of different therapeutic strategies on final adult height in patients with Turner syndrome.
• To determine the optimal timing and combination of therapies for puberty induction and growth enhancement in TS.

Main Methods:

• Retrospective analysis of Turner syndrome patients who reached near adult height.
• Comparison of three groups: spontaneous puberty (n=10), oxandrolone and estrogen (n=18), and growth hormone (GH) with later estrogen initiation (n=17).
• Estrogen therapy in the GH group commenced at 14.7 ± 1.97 years.

Main Results:

• Final near adult height was significantly greater in the GH group (154.2 ± 7.0 cm) compared to spontaneous puberty (144.0 ± 4.6 cm) and oxandrolone/estrogen groups (143.5 ± 1.8 cm).
• Estrogen therapy alone or with oxandrolone did not improve final height compared to spontaneous puberty.
• GH treatment, initiated later in puberty, resulted in superior height outcomes.

Conclusions:

• Individualized treatment strategies are essential for puberty induction in Turner syndrome.
• Growth hormone therapy, combined with appropriately timed estrogen therapy, is effective in achieving optimal adult height and feminization in TS.
• This combined approach avoids significant adverse mental disturbances, supporting its clinical utility.