The endocrine complications of cystic fibrosis

Cystic fibrosis is a multisystem disorder caused by dysfunction of the cystic fibrosis transmembrane conductance regulator (CFTR) protein, and is characterized by progressive pulmonary decline and exocrine pancreatic insufficiency. People with cystic fibrosis are at risk of multiple endocrine complications that can substantially increase morbidity and mortality, including cystic fibrosis-related diabetes (CFRD) and cystic fibrosis-related bone disease (CFBD). Children and adolescents with cystic fibrosis can also experience compromised growth and delayed puberty, although advances in clinical care and treatment have reduced rates of these complications. However, as people with cystic fibrosis live longer and healthier lives, new health challenges associated with these endocrine complications will become increasingly prevalent, including microvascular and macrovascular disease, obesity, metabolic syndrome, osteoporosis, fractures and earlier onset of perimenopause. In this Review, we summarize current knowledge on the epidemiology, pathophysiology, diagnosis and treatment of CFRD, CFBD, growth and puberty, hypogonadism and infertility, iatrogenic adrenal insufficiency and perimenopause in patients with cystic fibrosis. We also consider future research priorities in the field.