Treatment of precocious puberty in two patients with Turner mosaicism

Area of Science:

• Endocrinology
• Genetics

Background:

• Turner syndrome (TS) typically presents with growth reduction, ovarian dysgenesis, and infertility, with most patients not achieving spontaneous puberty.
• Mosaic Turner karyotype is a variation of TS, and its impact on pubertal development is less commonly documented.

Observation:

• This report details two cases of mosaic Turner syndrome presenting with precocious pubertal development, an atypical presentation for TS.
• The observed precocious puberty in these patients deviates from the usual pubertal delay seen in Turner syndrome.

Findings:

• The first patient received LHRH analog treatment, resulting in regular menses and near-target height achievement.
• The second patient was treated with both LHRH analog and recombinant growth hormone, which delayed puberty and significantly increased predicted height from 145 cm to 158 cm.

Implications:

• These cases highlight the importance of individualized treatment strategies for mosaic Turner syndrome.
• Personalized approaches to pubertal induction and growth promotion are crucial for optimizing outcomes in patients with mosaic TS.