Spontaneous puberty in girls with early diagnosis of Turner syndrome

• Published in: Arquivos brasileiros de endocrinologia e metabologia Vol. 56; no. 9; pp. 653 - 657
• Main Authors: Carpini, Stela, Carvalho, Annelise Barreto, Guerra-Júnior, Gil, Baptista, Maria Tereza Matias, Lemos-Marini, Sofia Helena Valente, Maciel-Guerra, Andréa Trevas
• Format: Journal Article
• Language: English; Portuguese
• Published: Brazil Sociedade Brasileira de Endocrinologia e Metabologia 01.12.2012
• Subjects: Adolescent; Child; Early Diagnosis; ENDOCRINOLOGY & METABOLISM; Female; Humans; Hypogonadism - diagnosis; Karyotype; Puberty - genetics; Puberty - physiology; Turner Syndrome - diagnosis; Turner Syndrome - genetics; Turner Syndrome - physiopathology; early diagnosis; puberdade; diagnóstico precoce; gonadal dysgenesis; Síndrome de Turner; puberty; Turner syndrome; disgenesia gonadal
• ISSN: 0004-2730; 1677-9487; 1677-9487; 0004-2730
• DOI: 10.1590/S0004-27302012000900009

To verify if the frequency of spontaneous pubertal development among girls with Turner syndrome (TS) diagnosed in infancy and childhood is greater than that of patients diagnosed later. Thirty three girls aged < 10 years at the time of diagnosis were evaluated regarding pubertal development. The frequency of spontaneous puberty was compared with that of girls aged > 13 years diagnosed at the same service. Sixteen of 32 informative patients had signs of spontaneous puberty, a frequency greater than that of patients diagnosed later. In six patients, there was no progression of puberty; menarche occurred in six, and one became pregnant, but the fetus was a stillborn. Spontaneous puberty was absent in all cases with 45,X karyotype. The greater prevalence of spontaneous puberty in girls whose diagnosis was not based on pubertal delay suggests that, among those diagnosed later, there is a bias towards patients with hypogonadism.