ZFIN ID: ZDB-PUB-201025-5
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.R., Cramer, C.H., Tebben, P.J., Libi, S.E., Poling, G.L., Lanpher, B.C., Morava, E., Schimmenti, L.A.
Date: 2020
Source: American journal of medical genetics. Part A   185(1): 261-266 (Journal)
Registered Authors: Schimmenti, Lisa A.
Keywords: EYA1 gene, adenohypophysis, branchio-oto-renal (BOR) syndrome, branchio-oto-renal spectrum disorder (BORSD), growth hormone deficiency
MeSH Terms:
  • Branchio-Oto-Renal Syndrome/diagnosis*
  • Branchio-Oto-Renal Syndrome/diagnostic imaging
  • Branchio-Oto-Renal Syndrome/genetics
  • Branchio-Oto-Renal Syndrome/pathology
  • Female
  • Growth Hormone/deficiency
  • Growth Hormone/genetics*
  • Homeodomain Proteins/genetics*
  • Humans
  • Infant
  • Intracellular Signaling Peptides and Proteins/genetics*
  • Nuclear Proteins/genetics*
  • Pituitary Gland/metabolism
  • Pituitary Gland/pathology
  • Pituitary Gland, Anterior/diagnostic imaging
  • Pituitary Gland, Anterior/metabolism
  • Pituitary Gland, Anterior/pathology
  • Protein Tyrosine Phosphatases/genetics*
PubMed: 33098377 Full text @ Am. J. Med. Genet. A
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.