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Normal growth and its disorders 

Normal growth and its disorders

Chapter:
Normal growth and its disorders
Author(s):

Gary Butler

DOI:
10.1093/med/9780199204854.003.130901_update_001

Update:

Turner syndrome—discussion of treatment of short stature with oxandrolone, low-dose estrogen, and ultra-low-dose oestrogen.

Growth hormone deficiency—recommendations for the diagnosis and treatment of growth hormone deficiency.

Treatment of tall stature—discussion of long-term effects of high-dose sex steroid treatment.

Updated on 30 Nov 2011. The previous version of this content can be found here.
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date: 26 March 2017

Normal growth has three phases: rapid in infancy and adolescence, steady during mid childhood. Height should always be interpreted within the context of the family: short or tall stature is often familial; idiopathic short stature occurs when the height of a normal child is below their target range.

Failure of growth

Aetiology and investigation—constitutional growth delay is a common normal variant, but poor growth and/or weight gain may be associated with recognized and unrecognized chronic disease, and also with psychosocial deprivation. Investigation must exclude conditions including hypothyroidism, coeliac disease, inflammatory bowel disease and chronic kidney disease. Turner syndrome (karyotype 45,X) should be suspected in all girls presenting with growth failure, and skeletal dysplasia when a child is either short for their family or has one parent of significant short stature. Growth hormone (GH) deficiency—confirmed by a poor response to stimulation tests and low IGF-1 levels—may occur in isolation or in association with one or more additional pituitary hormone deficiencies, and may be genetic or acquired (usually from intracranial tumours or following traumatic brain injury).

Management—GH (given by daily subcutaneous injection) may restore growth potential completely in children with GH deficiency, and (usually in larger doses) can improve growth and may be appropriate for some children with conditions including, chronic kidney disease, Turner syndrome, Prader–Willi syndrome, SHOX deficiency, and those who were born small for gestational age.

Excessive growth

Aetiology and investigation—constitutional tall stature, often associated with obesity, is a common normal variant, but conditions that can present with tall stature include: (1) genetically identifiable syndromes – e.g. Marfan’s syndrome, Klinefelter’s syndrome (karyotype 47,XXY), 47, XYY boys; (2) any condition leading to precocious sexual maturation (see Chapter 13.9.2); (3) pituitary gigantism—a rare condition caused by a pituitary somatotroph macroadenoma secreting large quantities of GH.

Management—attempts at growth limitation with high dose sex steroids are not often effective and may have short- and long-term complications, but induction of early puberty with conventional hormone doses may offer some help. Absolute cessation of limb growth can only be obtained by epiphysiodesis.

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