Delayed puberty in girls with cystic fibrosis despite good clinical status

Background. Previous studies have shown that puberty is delayed among patients with cystic fibrosis (CF). Malnutrition has been considered the main etiologic factor. Today with improved medical therapy and nutritional support, most CF patients obtain an almost normal nutritional status. Objectives. To investigate whether pubertal development among female CF patients at the Stockholm CF Center was normal and, if not, what other parameters besides nutrition might influence this. Methods. Seventeen patients were studied retrospectively regarding age at peak height velocity and menarche. Menarcheal age (MA) was compared with normal population data and related to clinical and nutritional status, genotype, oral, glucose tolerance test (OGTT), and essential fatty acid levels. Results. The mean age at peak height velocity (12.9 +/- 0.8 years) and at menarche (14.9 +/- 1.4 years) was significantly higher in the CF patients compared with normal controls (11.9 +/- 1.0 years and 13.0 +/- 1.0 years, respectively). No correlation was found between menarchal age and nutritional or clinical parameters. The patients with pathological OGTT without overt diabetes were significantly older at menarche (15.8 +/- 1.7 years) compared with the patients with normal OGTT (14.3 +/- 0.9 years). The patients who were homozygous for the most common mutation, deltaF508, were significantly older at menarche (15.2 +/- 1.9 years) than those who were not (14.7 +/- 0.9 years). Conclusions. Pubertal delay still existed among the CF patients despite good clinical status. The patients homozygous for deltaF508 and those with pathological OGTT showed the most delayed puberty.