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hrp0082p1-d1-140 | Growth | ESPE2014

Severe Short Stature and GH Insensitivity Due to a De Novo Heterozygous STAT5B Missense Mutation

Klammt Jurgen , Neumann David , Andrew Shayne F , Drahosova Marcela , Stobbe Heike , Buckham Kyle , Rosenfeld Ron G , Pfaffle Roland , Hwa Vivian

Background: GH insensitivity is caused by disturbances of GH receptor function or inability to transduce the hormone signal. Affected children are severely growth retarded and may also present immune complications when the transducer STAT5B is defective. Only autosomal-recessive STAT5B mutations have been described to date.Clinical case: Two male 14.5 year monozygotic twins presented with heights of 131.5 cm (−5.3 SDS). Bone age of the ind...

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hrp0082p1-d1-138 | Growth | ESPE2014

A Novel Homozygous Mutation of the IGF1 Receptor Gene (igf1r) in Two Siblings with Severe Short Stature, Intellectual Disability, Congenital Malformations, and Deafness

Maystadt Isabelle , Andrew Shayne F , De Schepper Jean , Wauters Nathalie , Mortier Geert , Benoit Valerie , Joset Pascal , Oneda Beatrice , Rosenfeld Ron G , Rauch Anita , Hwa Vivian

Background: Heterozygous mutations in the IGF1 receptor (IGF1R) are often associated with congenital IGF1 resistance, causing variable degrees of intrauterine growth retardation (IUGR) and postnatal short stature. To date, only one homozygous IGF1R mutation has been reported, in a child presenting with severe growth failure, mild intellectual impairment, microcephaly, dysmorphic features, and cardiac malformations.Objective: We now repo...

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ESPE Abstracts

Severe Short Stature and GH Insensitivity Due to a De Novo Heterozygous STAT5B Missense Mutation

A Novel Homozygous Mutation of the IGF1 Receptor Gene (igf1r) in Two Siblings with Severe Short Stature, Intellectual Disability, Congenital Malformations, and Deafness

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