Growth hormone insensitivity with immune dysregulation 1, autosomal recessive D81.4

Last updated on: 09.06.2022

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Definition
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Very rare autosomal recessive growth hormone insensitivity syndrome with immune dysregulation-1 (GHISID1), is a congenital disorder characterized by short stature due to insensitivity to growth hormone (GH1; 139250).

Literature
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  1. Bernasconi A et al.(2006) Characterization of immunodeficiency in a patient with growth hormone insensitivity secondary to a novel STAT5b gene mutation. Pediatrics 118: e1584.
  2. Kofoed EM et al (2003) Growth hormone insensitivity associated with a STAT5b mutation. New Eng J Med 349: 1139-1147.
  3. Vidarsdottir S et al (2006) Clinical and biochemical characteristics of a male patient with a novel homozygous STAT5b mutation. J Clin Endocr Metab 91: 3482-3485.

Disclaimer

Please ask your physician for a reliable diagnosis. This website is only meant as a reference.

Last updated on: 09.06.2022

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