Evaluation of short stature

Short stature is never evaluated as an emergency because by its nature it is a condition that develops over time. However, crossing height percentiles in the downward direction always needs to be evaluated.

Short stature may be the presenting sign of a number of serious or even life-threatening conditions. Prompt identification of cardiac defects, inflammatory bowel disease, cystic fibrosis, chronic kidney failure, poorly controlled diabetes mellitus, and malignancy are mandatory in normalizing growth and targeting treatment.

Urgent considerations include:

• Congenital primary hypothyroidism

  • Cause of short stature and mental delay

  • Preventable by early detection through newborn screening programs

  • Treatment with levothyroxine recommended within the first 2 weeks of life.

• Craniopharyngioma and other central nervous system malignancies

  • Craniopharyngioma presents with diplopia, vision loss, headaches, and short stature

  • Patients need an urgent neurologic and endocrinologic evaluation, including a brain scan and evaluation for other pituitary hormone deficiencies.