Growth hormone deficiency in a child with benign hereditary chorea caused by a
Benign hereditary chorea
growth hormone deficiency
hypothyroidism
Journal
Journal of pediatric endocrinology & metabolism : JPEM
ISSN: 2191-0251
Titre abrégé: J Pediatr Endocrinol Metab
Pays: Germany
ID NLM: 9508900
Informations de publication
Date de publication:
28 Mar 2022
28 Mar 2022
Historique:
received:
14
06
2021
accepted:
11
10
2021
pubmed:
29
10
2021
medline:
5
4
2022
entrez:
28
10
2021
Statut:
epublish
Résumé
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. We reported the clinical case of a toddler presenting with neurological symptoms (hypotonia, delayed motor milestones, and axial dystonia) and subclinical hypothyroidism in which we found a ' The peculiarity of our case is that the mild alteration of thyroid-stimulating hormone (TSH) levels, hypotonia, and delayed motor milestones were associated with growth hormone deficiency.
Identifiants
pubmed: 34710315
pii: jpem-2021-0402
doi: 10.1515/jpem-2021-0402
doi:
Substances chimiques
NKX2-1 protein, human
0
Nuclear Proteins
0
Thyroid Nuclear Factor 1
0
Transcription Factors
0
Growth Hormone
9002-72-6
Types de publication
Case Reports
Langues
eng
Sous-ensembles de citation
IM
Pagination
411-415Informations de copyright
© 2021 Walter de Gruyter GmbH, Berlin/Boston.
Références
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