Disorders of Growth and Stature

1. Laurie R. Braun, MD*,† 2. Rose Marino, MD* 1. *Pediatric Endocrine Unit and 2. †Neuroendocrine Unit, Massachusetts General Hospital and Harvard Medical School, Boston, MA * Abbreviations: ACTH: : adrenocorticotropic hormone CDC: : Centers for Disease Control and Prevention CDGP: : constitutional delay of growth and puberty CNS: : central nervous system FSS: : familial short stature GH: : growth hormone GnRH: : gonadotropin-releasing hormone IGF-BP3: : IGF-1 binding protein 3 IGF-1: : insulin-like growth factor 1 ISS: : idiopathic short stature NPR2 : : natriuretic peptide receptor B rhGH: : recombinant human GH SGA: : small for gestational age SHOX : : short stature homeobox TSH: : thyroid-stimulating hormone T4: : thyroxine It is often challenging to identify children with abnormal growth patterns and distinguish normal growth variants from pathologic variants. After completing this article, readers should be able to: 1. Perform growth measurements and interpret growth charts to be able to identify children with short or tall stature. 2. Differentiate among the common origins of short and tall stature and plan an appropriate diagnostic evaluation for a slowly or rapidly growing child. 3. Describe when treatment is indicated for children with short and tall stature. Growth parameters are routinely measured in general pediatrics, with the goal of identifying children with abnormalities in growth and stature. Short stature is defined as a height less than 2 standard deviations (SDs) below the mean of the “normal” population, while tall stature is defined as a height greater than 2 SDs above the mean of the normal population. Both single growth measurements and the pattern of growth over time (growth velocity) are useful in identifying children with abnormal stature. The growth velocity changes over time, with relatively rapid growth in infancy and early childhood, followed by slower growth (approximately 5 cm per year) in later childhood and then rapid growth again during puberty. There is a range of pubertal peak growth velocities of around 7 to 12 cm per year and 6 to 10.5 cm per year in boys and girls, respectively, representing approximately the 3rd to 97th percentiles. The timing of peak growth velocity varies with the age of puberty onset and frequently reflects familial pubertal and growth patterns. Overall, it is thought that …