, Volume 10, Issue 4, pp 351–357

Isolated growth hormone deficiency

  • Libia M. Hernández
  • Phillip D. K. Lee
  • Cecilia Camacho-Hübner


Isolated growth hormone deficiency (IGHD) represents conditions of GH deficiency that are not necessarily associated with other pituitary hormone deficiencies or with an organic lesion. Three sub-categories of IGHD have been clinically identified (IGHD types 1–3), and IGHD type 1 has been further separated into IGHD types 1a and b. However, this clinical sub-categorization of IGHD may need reconsideration due to the recent identification of molecular heterogeneity within each sub-type of IGHD. In a small number of children with IGHD, defects in the GH, GH-releasing hormone receptor (GHRH-R), and GH1 genes have been identified. In most cases, no cause for IGHD can be identified; however, the proportion of idiopathic IGHD cases may be decreasing due to identification of causative factors. The phenotype of IGHD is variable depending in part on the underlying genetic disorders in the affected individuals. Several studies have focused on the usefulness of MRI findings in patients with GHD but anatomic abnormalities of the pituitary gland are variable. We review current studies and the clinical, biochemical, and molecular features described for different groups of affected individuals with IGHD.


Growth hormone Growth hormone deficiency Pituitary Growth hormone releasing hormone 


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Copyright information

© Springer Science+Business Media, LLC 2007

Authors and Affiliations

  • Libia M. Hernández
    • 1
  • Phillip D. K. Lee
    • 2
    • 3
  • Cecilia Camacho-Hübner
    • 1
    • 4
  1. 1.Department of Endocrinology, William Harvey Research Institute, St. Bartholomew’s and the Royal London Hospitals, QMUniversity of LondonLondonUK
  2. 2.Department of PediatricsDavid Geffen School of Medicine at UCLALos AngelesUSA
  3. 3.Global Clinical DevelopmentEMD Serono Inc., One Technology PlaceRocklandUSA
  4. 4.Department of Woman and Child HealthKarolinska University HospitalStockholmSweden

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