Ultrasound findings of pubertal development in girls with cystic fibrosis and their association with clinical outcomes and Tanner staging.

Abstract

Patients with cystic fibrosis (CF) have a high incidence of pubertal and growth delay. In girls with CF, pubertal delay has an important psychological impact. Still, only a few studies have explored the occurrence of pubertal delay in girls with CF. The aims of this study were to compare the pubertal development of girls with CF compared with healthy controls regarding Tanner staging and pelvic ultrasound and, in girls with CF, correlate the findings with those of spirometry, body mass index, Shwachman-Kulczycki score (SKS), and genotyping. This was a cross-sectional, case-control study including 35 girls with CF aged 6-17 years and following up at the Pediatric Pulmonology Outpatient Clinic of a tertiary hospital. These patients were compared with 59 healthy controls who had undergone pelvic ultrasound as part of another study conducted by the same group. Girls with CF were consecutively enrolled in the study during their annual routine check-up visit. Data collected in the CF group included spirometry and anthropometric results, SKS values, bone age, occurrence of current cystic fibrosis-related diabetes (CFRD) and Pseudomonas aeruginosa colonization, history of meconium ileus, genotype, ultrasound parameters, and Tanner stage. Pelvic ultrasound findings and Tanner stage reflected less pubertal development in girls with CF compared with healthy controls. Pubertal stage in patients with CF who presented CFRD (3.17 ± 1.16), had chronic colonization by Pseudomonas aeruginosa (3.10 ± 1.10), or were homozygous for the F508del mutation (1.91 ± 1.30) was more delayed than in controls (3.41 ± 1.41). Tanner stage correlated with age at menarche, bone age, and anthropometric and ultrasound data. Girls with CF presented a delay in pubertal development evaluated by Tanner stage and ultrasound parameters, which was more evident in the presence of comorbidities.