Endocrine abnormalities in Townes-Brocks syndrome

Am J Med Genet A. 2013 Sep;161A(9):2266-73. doi: 10.1002/ajmg.a.36104. Epub 2013 Jul 25.


Townes-Brocks syndrome is a recognizable variable pattern of malformation caused by mutations to the SALL1 gene located on chromosome 16q12.1. Only three known cases of Townes-Brocks syndrome with proven SALL1 gene mutation and concurrent endocrine abnormalities have been previously documented to our knowledge [Kohlhase et al., 1999; Botzenhart et al., 2005; Choi et al., 2010]. We report on two unrelated patients with Townes-Brocks syndrome who share an identical SALL1 mutation (c.3414_3415delAT), who also have endocrine abnormalities. Patient 1 appears to be the first known case of growth hormone deficiency, and Patient 2 extends the number of documented mutation cases with hypothyroidism to four. We suspect endocrine abnormalities, particularly treatable deficiencies, may be an underappreciated component to Townes-Brocks syndrome.

Keywords: SALL1; Townes-Brocks syndrome; endocrine abnormalities; growth hormone deficiency; hypothyroidism; preaxial polydactyly; triphalangeal thumbs.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / diagnosis
  • Abnormalities, Multiple / genetics
  • Abnormalities, Multiple / physiopathology*
  • Anus, Imperforate / diagnosis
  • Anus, Imperforate / genetics
  • Anus, Imperforate / physiopathology*
  • Child, Preschool
  • Endocrine System / metabolism
  • Endocrine System / physiopathology*
  • Facies
  • Female
  • Genetic Association Studies
  • Genotype
  • Growth Charts
  • Hearing Loss, Sensorineural / diagnosis
  • Hearing Loss, Sensorineural / genetics
  • Hearing Loss, Sensorineural / physiopathology*
  • Humans
  • Magnetic Resonance Imaging
  • Male
  • Mutation
  • Pedigree
  • Phenotype
  • Pituitary Gland / pathology
  • Thumb / abnormalities*
  • Thumb / physiopathology
  • Transcription Factors / genetics


  • SALL1 protein, human
  • Transcription Factors

Supplementary concepts

  • Townes-Brocks syndrome