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Updated: May 9, 2026

Skeletal Phenotype Analysis of a Conditional Stat3 Deletion Mouse Model
Published on: July 3, 2020
[STAT5B deficiency: a new growth hormone insensitivity syndrome associated to immunological dysfunction]
Renata C Scalco1, Patrícia N Pugliese-Pires, Alexander A L Jorge
1Unidade de Endocrinologia Genética, LIM-25, Disciplina de Endocrinologia, Faculdade de Medicina da Universidade de São Paulo, São Paulo, SP, Brasil
Abstract:
A new presentation of growth hormone insensitivity (GHI) caused by homozygous mutations in STAT5B (signal transducer and activator of transcription 5B) gene has been characterized in the last years. Its particularity is the association with severe immune dysfunction, especially with lymphocytic interstitial pneumonitis. This may mislead physicians into considering short stature as secondary to chronic immunological disease and consequently into underdiagnosing this form of GHI. The objective of this review is to propagate current knowledge about this rare pathology, facilitating the diagnosis of patients with GHI due to STAT5B mutations in endocrinology and other specialties clinics.
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