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

  • Viola Trevisani , Barbara Predieri ORCID logo , Simona Filomena Madeo , Carlo Fusco ORCID logo , Livia Garavelli ORCID logo , Stefano Caraffi und Lorenzo Iughetti ORCID logo EMAIL logo
Veröffentlicht/Copyright: 28. Oktober 2021
Journal of Pediatric Endocrinology and Metabolism
Aus der Zeitschrift Journal of Pediatric Endocrinology and Metabolism Band 35 Heft 3

Abstract

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 neurological symptoms (hypotonia, delayed motor milestones, and axial dystonia) and subclinical hypothyroidism in which we found a ‘de novo’ variant in the NKX2-1 gene.

Conclusions

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.

Keywords: Benign hereditary chorea; growth hormone deficiency; hypothyroidism
Corresponding author: Lorenzo Iughetti, MD, PhD, Department of Medical and Surgical Sciences of the Mothers, Post Graduate School of Pediatrics, Children and Adults, University of Modena and Reggio Emilia, Largo del Pozzo, 71 – 41124 Modena, Italy; and Department of Medical and Surgical Sciences of the Mothers, Pediatric Unit, Children and Adults, University of Modena and Reggio Emilia, Largo del Pozzo, 71 – 41124 Modena, Italy, E-mail:

  1. Research Funding: None declared.

  2. Author Contribution: VT, BP and LI contributed to the conception and design. SFM, CF, LG, SC contributed to the acquisition and interpretation of data. VT, BP and LI written the paper. LI revised and edited the manuscript. All authors drafted the article and approved its final version. All authors have accepted responsibility for the entire content of this manuscript and approved its submission.

  3. Competing Interest: The authors declare that they have no conflicts of interest.

  4. Informed Consent: Informed consent was obtained from all individuals included in this study.

  5. Ethical Approval: This study adhered to the ethical guidelines for medical and health research involving human subjects established by the government of Italy.

  6. Consent for Publication: Written consent for the publication of data and images was obtained from the parents of the patients.

References

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Received: 2021-06-14
Revised: 2021-09-02
Accepted: 2021-10-11
Published Online: 2021-10-28
Published in Print: 2022-03-28

© 2021 Walter de Gruyter GmbH, Berlin/Boston

Artikel in diesem Heft

  1. Frontmatter
  2. Review Article
  3. Congenital hyperinsulinism: recent updates on molecular mechanisms, diagnosis and management
  4. Original Articles
  5. Weight changes of children in 1 year during COVID-19 pandemic
  6. Three novel mutations of the BCKDHA, BCKDHB and DBT genes in Chinese children with maple syrup urine disease
  7. Rates of adrenal insufficiency using a monoclonal vs. polyclonal cortisol assay
  8. Hyperinsulinemic hypoglycemia in growth restricted convalescent preterm neonates: clinical characteristics and impediments to early diagnosis
  9. Identification of three novel pathogenic mutations in cystathionine beta-synthase gene of Pakistani intellectually disabled patients
  10. The prevalence of incidental finding of gynecomastia on thoracic computed tomography in the pediatric age group
  11. The prevalence of hypertension and elevated blood pressure and its correlation with overweight/obesity among students aged 6–17 years in Suzhou
  12. Investigation of androgen receptor gene CAG repeat length polymorphism in pubertal gynecomastia
  13. A single-centre study of genetic mutations, audiology, echocardiogram and pulmonary function in Saudi children with osteogenesis imperfecta
  14. A 10-year retrospective single-center study of alpha-fetoprotein and beta-human chorionic gonadotropin in Romanian children with (para)gonadal tumors and cysts
  15. Clinical, pathological and molecular spectrum of patients with glycogen storage diseases in Pakistan
  16. Allelic dropout in PAH affecting the results of genetic diagnosis in phenylketonuria
  17. Short Communication
  18. Role of the SARS-CoV-2 virus in the appearance of new onset type 1 diabetes mellitus in children in Gran Canaria, Spain
  19. Case Reports
  20. 3-M syndrome – a primordial short stature disorder with novel CUL7 mutation in two Indian patients
  21. The coincidence of two rare diseases with opposite metabolic phenotype: a child with congenital hyperinsulinism and Bloom syndrome
  22. Growth hormone deficiency in a child with benign hereditary chorea caused by a de novo mutation of the TITF1/NKX2-1 gene
  23. Identification of a novel mutation in the PHKA2 gene in a child with liver cirrhosis
https://doi.org/10.1515/jpem-2021-0402
Schlagwörter für diesen Artikel
Benign hereditary chorea; growth hormone deficiency; hypothyroidism

Artikel in diesem Heft

  1. Frontmatter
  2. Review Article
  3. Congenital hyperinsulinism: recent updates on molecular mechanisms, diagnosis and management
  4. Original Articles
  5. Weight changes of children in 1 year during COVID-19 pandemic
  6. Three novel mutations of the BCKDHA, BCKDHB and DBT genes in Chinese children with maple syrup urine disease
  7. Rates of adrenal insufficiency using a monoclonal vs. polyclonal cortisol assay
  8. Hyperinsulinemic hypoglycemia in growth restricted convalescent preterm neonates: clinical characteristics and impediments to early diagnosis
  9. Identification of three novel pathogenic mutations in cystathionine beta-synthase gene of Pakistani intellectually disabled patients
  10. The prevalence of incidental finding of gynecomastia on thoracic computed tomography in the pediatric age group
  11. The prevalence of hypertension and elevated blood pressure and its correlation with overweight/obesity among students aged 6–17 years in Suzhou
  12. Investigation of androgen receptor gene CAG repeat length polymorphism in pubertal gynecomastia
  13. A single-centre study of genetic mutations, audiology, echocardiogram and pulmonary function in Saudi children with osteogenesis imperfecta
  14. A 10-year retrospective single-center study of alpha-fetoprotein and beta-human chorionic gonadotropin in Romanian children with (para)gonadal tumors and cysts
  15. Clinical, pathological and molecular spectrum of patients with glycogen storage diseases in Pakistan
  16. Allelic dropout in PAH affecting the results of genetic diagnosis in phenylketonuria
  17. Short Communication
  18. Role of the SARS-CoV-2 virus in the appearance of new onset type 1 diabetes mellitus in children in Gran Canaria, Spain
  19. Case Reports
  20. 3-M syndrome – a primordial short stature disorder with novel CUL7 mutation in two Indian patients
  21. The coincidence of two rare diseases with opposite metabolic phenotype: a child with congenital hyperinsulinism and Bloom syndrome
  22. Growth hormone deficiency in a child with benign hereditary chorea caused by a de novo mutation of the TITF1/NKX2-1 gene
  23. Identification of a novel mutation in the PHKA2 gene in a child with liver cirrhosis
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