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Endocrine abnormalities in Townes-Brocks syndrome.
Cara Lawrence1, Irene Hong-McAtee, Bryan Hall
1College of Medicine, University of Kentucky, Lexington, Kentucky 40536, USA.
American Journal of Medical Genetics. Part A
|July 30, 2013
Summary
Townes-Brocks syndrome, caused by SALL1 gene mutations, may frequently involve endocrine issues. This study identifies two new cases, highlighting potential growth hormone deficiency and hypothyroidism.
Area of Science:
- Genetics
- Endocrinology
- Pediatrics
Background:
- Townes-Brocks syndrome is a genetic disorder caused by SALL1 gene mutations.
- Concurrent endocrine abnormalities are rarely documented in Townes-Brocks syndrome patients.
Observation:
- Two unrelated patients with Townes-Brocks syndrome and an identical SALL1 mutation (c.3414_3415delAT) were identified.
- Patient 1 presented with growth hormone deficiency.
- Patient 2 presented with hypothyroidism.
Findings:
- This study adds two new cases of Townes-Brocks syndrome with SALL1 mutations and endocrine dysfunction.
- Identified the first known case of growth hormone deficiency in Townes-Brocks syndrome.
- Increased the number of documented SALL1 mutation cases with hypothyroidism to four.
Implications:
- Endocrine abnormalities, especially treatable deficiencies, may be an underappreciated feature of Townes-Brocks syndrome.
- Further research is warranted to investigate the prevalence and spectrum of endocrine dysfunction in Townes-Brocks syndrome.
- Early screening for endocrine abnormalities in patients with Townes-Brocks syndrome is recommended.
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