Pubertal development profile in patients with Turner syndrome

Area of Science:

• Pediatric Endocrinology
• Reproductive Endocrinology
• Genetics

Background:

• Puberty involves two independent events: adrenarche and gonadarche.
• In Turner syndrome (TS), dissociation between adrenarche and gonadarche can occur.
• Understanding pubertal development in TS is crucial for timely intervention.

Purpose of the Study:

• To evaluate the timing and sequence of secondary sexual characteristic development in Turner syndrome.
• To assess the occurrence of spontaneous puberty and its relationship with hormone replacement therapy in TS patients.

Main Methods:

• Retrospective analysis of clinical and cytogenetic data from 123 patients with Turner syndrome.
• Recorded variables included karyotype, age of thelarche, pubarche, menarche, spontaneous puberty, pubertal maintenance, and hormone replacement therapy (HRT).

Main Results:

• Spontaneous puberty occurred in 38.2% of patients; 28.5% maintained puberty, while 9.8% required subsequent HRT.
• 44% of patients had puberty induced via HRT.
• Pubarche preceded thelarche in 56.9% of patients, and 78.4% experienced spontaneous pubarche, with 21.5% developing it after estrogen therapy.

Conclusions:

• Approximately one-third of Turner syndrome patients experience spontaneous puberty.
• Pubarche is the initial sign of puberty in most TS patients.
• Estrogen therapy is sometimes necessary to initiate pubarche in TS patients.