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Article

Growth hormone deficiency in a child with benign hereditary chorea caused by a de novo mutation of the TITF1/NKX2-1 gene.

Journal of pediatric endocrinology & metabolism : JPEM - 28 Mar 2022

Trevisani Viola, Predieri Barbara, Madeo Simona Filomena, Fusco Carlo, Garavelli Livia, Caraffi Stefano, Iughetti Lorenzo

Abstract excerpt

OBJECTIVES: Benign Hereditary Chorea (BHC) (MIM 118700) is a rare childhood-onset movements disorder characterized by non-progressive chorea. It is usually caused by variants in the thyroid transcription factor 1 (TITF-1/NKX2-1) gene and it is associated with thyroid dysfunction and pulmonary symptoms in the brain-lung-thyroid syndrome. CASE PRESENTATION: We reported the clinical case of a toddler presenting with...

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PMID: 34710315
DOI: 10.1515/jpem-2021-0402

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