A novel heterozygous STAT5B variant in a patient with short stature and partial growth hormone insensitivity (GHI)
- Ramírez, Laura
- Sanguineti, Nora María
- Scaglia, Paula Alejandra
- Keselman, Ana Claudia
- Ballerini, Maria Gabriela
- Karabatas, Liliana Margarita
- Landi, Estefania Maria
- Castro, Julia
- Domene, Sabina
- Pennisi, Patricia Alejandra
- Jasper, Hector Guillermo
- Rey, Rodolfo Alberto
- Vázquez, Martín
- Domene, Horacio Mario
- Bergadá, Ignacio
- Gutiérrez, Mariana Lilián
DOIAbstract
Background: The most frequent monogenic causes of growth hormone insensitivity (GHI) include defects in genes encoding the GH receptor itself (GHR), the signal transducer and activator of transcription (STAT5B), the insulin like-growth factor type I (IGF1) and the acid-labile subunit (IGFALS). GHI is characterized by a continuum of mild to severe post-natal growth failure. Objective: To characterize the molecular defect in a patient with short stature and partial GHI. Patient and methods: The boy was born at term adequate for gestational age from non-consanguineous normal-stature parents. At 2.2 years, he presented proportionate short stature (height −2.77 SDS), wide forehead and normal mental development. Whole-exome analysis and functiona...
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