| Delayed puberty due to a novel mutation in CHD7 causing CHARGE syndrome. | |
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MedLine Citation:
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PMID: 21041284 Owner: NLM Status: In-Process |
Abstract/OtherAbstract:
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We report the case of a 15-year-old girl who presented to a pediatric endocrinology clinic for delayed puberty with no signs of secondary sexual development. Her past medical history was significant for bilateral colobomas, inner-ear anomalies, hearing loss, and anosmia. Genetic testing revealed a novel de novo mutation in the CHD7 gene, one of the causative genes in CHARGE syndrome (coloboma, heart disease, choanal atresia, retarded growth and development and/or central nervous system anomalies, genital anomalies and/or hypogonadism, and ear anomalies and/or deafness). We review the distinction between hypogonadotrophic hypogonadism and hypergonadotrophic hypogonadism and discuss the availability of molecular genetic testing for idiopathic hypogonadotrophic hypogonadism. CHD7 mutations have also been found in some patients with Kallmann syndrome, hypogonadotrophic hypogonadism, and anosmia, and we discuss the overlap between this syndrome and CHARGE syndrome. With the increased availability of genetic testing for a variety of disorders, it is important for pediatricians to become familiar with interpreting genetic test results. Finally, we illustrate that Bayes' theorem is a useful statistical tool for interpreting novel missense mutations of unknown significance. |
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Authors:
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Andrew Dauber; Joel N Hirschhorn; Jonathan Picker; Thomas A Maher; Aubrey Milunsky |
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Publication Detail:
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Type: Journal Article Date: 2010-11-01 |
Journal Detail:
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Title: Pediatrics Volume: 126 ISSN: 1098-4275 ISO Abbreviation: Pediatrics Publication Date: 2010 Dec |
Date Detail:
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Created Date: 2010-12-02 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 0376422 Medline TA: Pediatrics Country: United States |
Other Details:
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Languages: eng Pagination: e1594-8 Citation Subset: AIM; IM |
Affiliation:
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Division of Endocrinology, CLS 16, Children's Hospital Boston, 300 Longwood Ave, Boston, MA 02115, USA. andrew.dauber@childrens.harvard.edu |
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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