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How do healthcare providers diagnose precocious puberty & delayed puberty?

To identify whether a child is entering puberty, a pediatrician (a physician specializing in the treatment of children) will carefully examine the following:

  • In girls, the growth of pubic hair and breasts
  • In boys, the increase in size of the testicles and penis and the growth of pubic hair

The pediatrician will compare what he or she finds against the Tanner scale, a 5-point scale that gauges the extent of puberty development in children.1,2

Precocious Puberty

After giving a child a complete physical examination and analyzing his or her medical history, a healthcare provider may perform tests to diagnose precocious puberty, including3:

  • A blood test to check the level of hormones, such as the gonadotropins (luteinizing hormone [LH] and follicle-stimulating hormone [FSH]), estradiol, testosterone, dehydroepiandrosterone sulfate (DHEAS), and thyroid hormones
  • A gonadotropin-releasing hormone agonist (GnRHa) stimulation test, which can tell whether a child's precocious puberty is gonadotropin-dependent or gonadotropin-independent
  • Measuring blood 17-hydroxyprogesterone to test for congenital adrenal hyperplasia
  • A "bone age" X­ray to determine if bones are growing at a normal rate

The healthcare provider may also use imaging techniques to rule out a tumor or other organ abnormality as a cause. These imaging methods may include:

  • Ultrasound (sonography) to examine the gonads. An ultrasound painlessly creates an image on a computer screen of blood vessels and tissues, allowing a healthcare provider to monitor organs and blood flow in real time
  • An MRI (magnetic resonance imaging) scan of the brain and pituitary gland using an instrument that produces detailed images of organs and bodily structures

Delayed Puberty

To diagnose hypogonadotropic hypogonadism, a healthcare provider may prescribe these tests 3:

  • Blood tests to measure hormone levels
  • Blood tests to measure if the pituitary gland can correctly respond to GnRH
  • An MRI of the brain and pituitary gland

Citations

  1. Marshall, W. A., & Tanner, J. M. (1969). Variations in pattern of pubertal changes in girls. Archives of Disease in Childhood, 44, 291–303.
  2. Tanner, J. M., & Davies, P. S. (1985). Clinical longitudinal standards for height and height velocity for North American children. Journal of Pediatrics, 107, 317–329.
  3. Styne D. M., & Grumbach, M. M. (2008) Puberty: Ontogeny, Neuroendocrinology, Physiology, and Disorders. In Kronenberg, H. M., Melmed, S., Polonsky, K. S., & Larsen, P. R. (Eds.), Williams Textbook of Endocrinology (11th ed., chap. 24). Philadelphia, PA: Saunders Elsevier.