Phenotype-genotype correlations in congenital isolated growth hormone deficiency (IGHD).

  title={Phenotype-genotype correlations in congenital isolated growth hormone deficiency (IGHD).},
  author={Kyriaki Sandy Alatzoglou and Mehul T Dattani},
  journal={Indian journal of pediatrics},
  volume={79 1},
Isolated growth hormone deficiency (IGHD) may be congenital, often due to genetic mutations, or acquired as a result of other factors such as cranial irradiation. The commonest genes implicated in its genetic etiology are those encoding growth hormone (GH1) and the receptor for GH-releasing hormone (GHRHR). Rarely, IGHD may be caused by mutations in transcription factors (HESX1, SOX3, OTX2) or be the first presentation before the development of other pituitary hormone deficiencies. IGHD has… CONTINUE READING

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