Pubertal development profile in patients with Turner syndrome

AbstractPuberty can be divided into two independent events: adrenarche and gonadarche. In healthy children, adrenarche is followed by gonadarche, but in patients with gonadal dysgenesis there is partial or complete dissociation between these two events.To evaluate the age and chronology of the development of secondary sexual characteristics and occurrence of these events and their relationship to the induction of puberty in patients with Turner syndrome (TS).A descriptive analysis with historical records of the patients with clinical and cytogenetic TS was conducted. The following variables were recorded: karyotype; age of thelarche, pubarche, and menarche; occurrence of spontaneous puberty; maintenance of puberty or secondary failure; and the onset of hormone replacement therapy (HRT) with estrogen.We evaluated 123 medical charts. Seven (5.7%) patients were prepubertal, 10 (8.1%) had only pubarche, and 5 (4%) had only thelarche. Forty-seven (38.2%) patients entered puberty spontaneously. Among these, 35 (28.5%) remained in puberty, and 12 (9.8%) required subsequent HRT; 54 (44%) had puberty induced. Sixty-six (56.9%) patients had pubarche started before thelarche. Menarche occurred in 67 patients, spontaneously in 19. Pubarche spontaneously presented in 91 (78.4%) patients, and in 25 (21.5%) after HRT introduction.Spontaneous puberty occurred in approximately one-third of the patients. Pubarche was the first feature in most patients and about 20% showed pubarche only after estrogen therapy.