Isolated growth hormone deficiency |
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| Authors: | Libia M Hernández Phillip D K Lee Cecilia Camacho-Hübner |
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| Institution: | (1) Department of Endocrinology, William Harvey Research Institute, St. Bartholomew’s and the Royal London Hospitals, QM, University of London, London, UK;(2) Department of Pediatrics, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA;(3) Present address: Global Clinical Development, EMD Serono Inc., One Technology Place, Rockland, MA 02370, USA;(4) Present address: Department of Woman and Child Health, Karolinska University Hospital, site Solna, SE-17176 Stockholm, Sweden |
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| Abstract: | 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. |
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| Keywords: | Growth hormone Growth hormone deficiency Pituitary Growth hormone releasing hormone |
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