Growth disorders articles from across Nature Portfolio

Mutations in the insulin receptor cause severe insulin resistance, but their functional impact is often unclear. Here, the authors map ~14,000 receptor variants, linking molecular defects to disease and highlighting variants responsive to therapeutic activation.

The first CRFR1 antagonist (crinecerfont) to be used for the treatment of congenital adrenal hyperplasia recently received FDA approval. This Clinical Outlook discusses the latest phase III studies in children and adults, as well as how crinecerfont — in combination with glucocorticoid replacement — might change clinical practice and affect long-term co-morbidities.

Studies of rare growth disorders taken together with large-scale genetic studies of adult height variability have uncovered a large genetic network regulating childhood growth. Advances in technology and experimental model systems will help decipher the molecular mechanisms of this complex network and lead to novel treatment approaches for growth disorders.