Which physical findings are characteristic of growth hormone receptor deficiency (GHRD) and STAT5b mutation?

Updated: Jan 15, 2019
  • Author: Arlan L Rosenbloom, MD; Chief Editor: Robert P Hoffman, MD  more...
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The clinical features with GHRD and STAT5b mutation are not distinguishable from those of severe GH deficiency.

15 Ecuadorian children with GHRD due to homozygosi 15 Ecuadorian children with GHRD due to homozygosity for the E180 splice mutation of the GH receptor, lined up according to descending age from 15 years to 2 years, with 3 normal children standing behind age mates. Note general but not consistent statural correlation with age, most dramatic for the 11-year-old boy, 4th from the left, and his 8-year-old brother holding the ball who is almost the same height.

ALS deficiency has modest, at most, effect on growth, without any other phenotypic features. [13, 14, 15, 16, 17, 18, 19] IGF-I mutations result in severe intrauterine and postnatal growth failure, deficient brain development in utero, and severe mental retardation, deafness, and micrognathia. [3, 4, 5, 6] Heterozygous IGF-1 receptor mutations result in varying degrees of intrauterine and postnatal growth retardation, microcephaly, and normal to moderately retarded cognitive development. [7, 20, 21, 22, 23, 24, 25, 26, 27, 28, 29, 30]

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