Growth hormone deficiency is a rare cause of short stature in which the pituitary makes too little growth hormone, so a child grows slowly and crosses height lines downward on the growth chart. It can be present from birth or acquired from a tumor, radiation or head injury, and early treatment improves final height.
Key symptoms
- Child much shorter than peers
- Slow growth; clothes and shoes are outgrown less often
- Younger-looking face and a chubby body
- Delayed puberty
- In newborns: low blood sugar, prolonged jaundice or a small penis
What you find on exam
- Accurate height, weight and growth velocity
- Plot on a growth chart and compare with mid-parental height
- Body proportions: normal in growth hormone deficiency
- Signs of other pituitary problems or midline defects
- Visual fields and fundi
Tests
- IGF-1 and IGFBP-3
- Bone age X-ray of the left hand: usually delayed
- Growth hormone stimulation test
- Rule out other causes: thyroid, celiac, blood count, kidney function, karyotype in girls; pituitary MRI
Treatment basics
- Daily somatropin injections, or weekly long-acting forms
- Replace other missing pituitary hormones
- Measure growth every 3 to 6 months
- Watch glucose, thyroid and hip or spine problems on treatment
- Support the child and family
Red flags
- Headache, vomiting or vision loss (possible brain tumor)
- Growth that stops completely
- Low blood sugar in an infant
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Sources: NCCPA PANCE Content Blueprint; NBOME COMLEX-USA clinical presentations; AAMC Core Entrustable Professional Activities (Core EPAs). Written by Making Synapses. Making Synapses is not affiliated with these organizations.