Back to Search
Start Over
Growth hormone deficiency in a child with <scp>branchio‐oto‐renal</scp> spectrum disorder: Clinical evidence of <scp> EYA1 </scp> in pituitary development and a recommendation for pituitary function surveillance
- Source :
- American Journal of Medical Genetics Part A. 185:261-266
- Publication Year :
- 2020
- Publisher :
- Wiley, 2020.
-
Abstract
- Branchio-oto-renal spectrum disorder (BORSD) is a rare autosomal dominant condition characterized by ear abnormalities with hard of hearing/deafness, second branchial arch malformations and renal anomalies. Pathogenic variations in EYA1 gene are found in the majority of clinically diagnosed individuals with BORSD. We describe an infant with BORSD related to a paternally inherited heterozygous pathogenic variation in EYA1 gene presenting with poor growth and hypoglycemia due to growth hormone deficiency. Magnetic resonance imaging revealed a diminutive pituitary gland and morphologically abnormal sella. Upon initiation of growth hormone therapy, the hypoglycemia resolved and catch up growth ensued. Pituitary abnormalities have not been reported previously in patients with BORSD. The zebrafish ortholog of eya1 is important for the development of adenohypophysis, suggesting that this patient's growth hormone deficiency and pituitary abnormality are part of BORSD. Inclusion of screening for pituitary hormone deficiency and pituitary imaging should be considered as a part of surveillance in patients with BORSD.
- Subjects :
- 0301 basic medicine
Pituitary gland
medicine.diagnostic_test
biology
business.industry
Physiology
Magnetic resonance imaging
030105 genetics & heredity
Hypoglycemia
biology.organism_classification
medicine.disease
Growth hormone deficiency
03 medical and health sciences
030104 developmental biology
medicine.anatomical_structure
Genetics
Medicine
Spectrum disorder
Abnormality
business
Zebrafish
Genetics (clinical)
Branchio oto renal
Subjects
Details
- ISSN :
- 15524833 and 15524825
- Volume :
- 185
- Database :
- OpenAIRE
- Journal :
- American Journal of Medical Genetics Part A
- Accession number :
- edsair.doi...........3f89566482f000935822bb52baefd114