Growth hormone deficiency in a child with branchio‐oto‐renal spectrum disorder: Clinical evidence of EYA1 in pituitary development and a recommendation for pituitary function surveillance
Muthusamy K, Hanna C, Johnson D, Cramer C, Tebben P, Libi S, Poling G, Lanpher B, Morava E, Schimmenti L. Growth hormone deficiency in a child with branchio‐oto‐renal spectrum disorder: Clinical evidence of EYA1 in pituitary development and a recommendation for pituitary function surveillance. American Journal Of Medical Genetics Part A 2020, 185: 261-266. PMID: 33098377, DOI: 10.1002/ajmg.a.61942.Peer-Reviewed Case Reports and Technical NotesConceptsGrowth hormone deficiencyHormone deficiencyEYA1 genePituitary abnormalitiesInitiation of growth hormone therapyHeterozygous pathogenic variationsRare autosomal dominant conditionPituitary hormone deficiencyGrowth hormone therapyBranchial arch malformationsPathogenic variationAutosomal dominant conditionMagnetic resonance imagingAbnormal sellaPituitary imagingRenal anomaliesHormone therapyEar abnormalitiesArch malformationsFunction surveillanceClinically diagnosed individualsClinical evidencePituitary developmentPituitary glandEYA1