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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, Karthik; Hanna, Christian; Johnson, Derek R; Cramer, Carl H; Tebben, Peter J; Libi, Sharon E; Poling, Gayla L; Lanpher, Brendan C; Morava, Eva; Schimmenti, Lisa A.
Afiliación
  • Muthusamy K; Department of Clinical Genomics, Mayo Clinic, Rochester, Minnesota, USA.
  • Hanna C; Division of Pediatric Nephrology and Hypertension, Mayo Clinic, Rochester, Minnesota, USA.
  • Johnson DR; Department of Diagnostic Radiology, Mayo Clinic, Rochester, Minnesota, USA.
  • Cramer CH; Department of Neurology, Mayo Clinic, Rochester, Minnesota, USA.
  • Tebben PJ; Division of Pediatric Nephrology and Hypertension, Mayo Clinic, Rochester, Minnesota, USA.
  • Libi SE; Divisions of Pediatric Endocrinology and Endocrinology, Diabetes and Metabolism and Nutrition, Mayo Clinic, Rochester, Minnesota, USA.
  • Poling GL; Department of Otorhinolaryngology-Head and Neck Surgery, Mayo Clinic, Rochester, Minnesota, USA.
  • Lanpher BC; Department of Otorhinolaryngology-Head and Neck Surgery, Mayo Clinic, Rochester, Minnesota, USA.
  • Morava E; Department of Clinical Genomics, Mayo Clinic, Rochester, Minnesota, USA.
  • Schimmenti LA; Department of Clinical Genomics, Mayo Clinic, Rochester, Minnesota, USA.
Am J Med Genet A ; 185(1): 261-266, 2021 01.
Article en En | MEDLINE | ID: mdl-33098377
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.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Hormona del Crecimiento / Proteínas Nucleares / Proteínas Tirosina Fosfatasas / Proteínas de Homeodominio / Síndrome Branquio Oto Renal / Péptidos y Proteínas de Señalización Intracelular Tipo de estudio: Guideline / Screening_studies Límite: Female / Humans / Infant Idioma: En Revista: Am J Med Genet A Asunto de la revista: GENETICA MEDICA Año: 2021 Tipo del documento: Article País de afiliación: Estados Unidos Pais de publicación: Estados Unidos
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Hormona del Crecimiento / Proteínas Nucleares / Proteínas Tirosina Fosfatasas / Proteínas de Homeodominio / Síndrome Branquio Oto Renal / Péptidos y Proteínas de Señalización Intracelular Tipo de estudio: Guideline / Screening_studies Límite: Female / Humans / Infant Idioma: En Revista: Am J Med Genet A Asunto de la revista: GENETICA MEDICA Año: 2021 Tipo del documento: Article País de afiliación: Estados Unidos Pais de publicación: Estados Unidos