Concerns with pubertal development are common and can cause considerable distress to patients and their carers. Many presentations reflect normal variations of pubertal timing and primarily require reassurance, although patients may opt for interventions. Other presentations need active management to avoid significant adverse effects on growth and psychosocial development. All should undergo careful assessment, particularly as some children or adolescents presenting with abnormalities in pubertal timing may have serious pathology which requires urgent investigations and treatment. This review describes the appropriate investigations and their interpretation for young people presenting with disorders in pubertal timing.
Keywords: Puberty; adrenarche; constitutional delay in growth and puberty; delayed puberty; hypogonadism; precocious puberty; thelarche.