Growth hormone deficiency (GHD) in children is a rare but treatable cause of growth failure in children. Growth hormone (GH) also has effects on bone mineral density, body composition, metabolic profile, and quality of life.
May be isolated (IGHD) or combined with other anterior and/or posterior pituitary hormone deficiencies (CPHD). The cause may be congenital or acquired.
Diagnosis is based on a combination of biochemistry, neuroradiology, and clinical phenotype.
Treatment in the form of recombinant human GH (rhGH) is safe and highly efficacious. Rapid diagnosis with early treatment results in attainment of a normal final height in most individuals.
Associated pituitary hormone deficiencies require treatment with hormone replacement and can evolve over time.
Endocrine reassessment should be undertaken after completion of growth and puberty, because some patients will require long-term GH therapy into adulthood because of its other beneficial effects.
Growth hormone deficiency (GHD), defined as suboptimal GH secretion, includes a group of different etiologic disorders. It may be isolated (IGHD) or combined with other anterior and/or posterior pituitary hormone deficiencies. Combined pituitary hormone deficiency (CPHD) is defined as a deficiency in two or more pituitary hormones. GHD may be congenital or acquired, sporadic or familial.
History and exam
Key diagnostic factors
- parental consanguinity
- short stature
- poor growth velocity
- short for target height
- absent pubertal growth spurt ± delayed puberty
- central nervous system (suprasellar) tumor symptoms
- symptoms of other pituitary hormone dysfunction
- characteristic facial appearance
Other diagnostic factors
- assisted birth
- visual impairment
- associated dysmorphic features
- focal neurologic deficits
- temperature dysregulation/sleep disorder
- behavioral problems
- family history of GHD
- other pituitary hormone deficiencies
- central nervous system (CNS) tumors/cysts
- radiation therapy
- midline abnormalities
- CNS infiltrative disorders
- perinatal complications
- CNS trauma
- preexisting iron overload disorder
- child abuse
- CNWS infections
1st investigations to order
- x-ray wrist
- thyroid function tests
- IGF1 and IGFBP3
- baseline pituitary function tests
- basic hematology and biochemistry screen
Investigations to consider
- GH provocation test
- MRI brain
- CT brain/x-ray skull
- full pituitary hormone evaluation
- specialist referral
- genetic studies
- random GH
confirmed GH deficiency
- Idiopathic short stature
- Constitutional delay in growth
- Familial short stature
- Guidelines for management of growth hormone deficiency in adults and patients transitioning from pediatric to adult care
- Guidelines for growth hormone and insulin-like growth factor-I treatment in children and adolescents: growth hormone deficiency, idiopathic short stature, and primary insulin-like growth factor-I deficiency
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