Premature Moustache As Presenting Symptom of Nonclassic Congenital Adrenal Hyperplasia due to 2 Uncommon Mutations of the CYP21A2 Gene
A Turkish boy was referred at the age of 3 6/12 years for the evaluation of a premature moustache. No other signs of virilisation were present. The endocrine evaluation led to the diagnosis of nonclassic congenital adrenal hyperplasia. Genetic analysis revealed 2 rare mutations of the CYP21A2 gen...
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| Format: | Article |
| Language: | English |
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Wiley
2011-01-01
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| Series: | Case Reports in Genetics |
| Online Access: | http://dx.doi.org/10.1155/2011/913020 |
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| author | Guy Massa Philippe Gillis Marianne Schwartz |
| author_facet | Guy Massa Philippe Gillis Marianne Schwartz |
| author_sort | Guy Massa |
| collection | DOAJ |
| description | A Turkish boy was referred at the age of 3 6/12 years for the evaluation of a premature moustache. No other signs of virilisation were present. The endocrine evaluation led to the diagnosis of nonclassic congenital adrenal hyperplasia. Genetic analysis revealed 2 rare mutations of the CYP21A2 gene, the gene encoding for the 21-hydroxylase enzyme: a recently reported R132C mutation in exon 3 and a R339H mutation in exon 8, both reported in the nonclassic CAH. An early moustache, for which the term premature moustache can be coined, can be the presenting symptom of nonclassic CAH. In all children presenting with a sex or age inappropriate development of a moustache, an endocrine evaluation is indicated. |
| format | Article |
| id | doaj-art-8179a11428d34dff89613e57376314f2 |
| institution | Kabale University |
| issn | 2090-6544 2090-6552 |
| language | English |
| publishDate | 2011-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Genetics |
| spelling | doaj-art-8179a11428d34dff89613e57376314f22025-02-03T01:27:44ZengWileyCase Reports in Genetics2090-65442090-65522011-01-01201110.1155/2011/913020913020Premature Moustache As Presenting Symptom of Nonclassic Congenital Adrenal Hyperplasia due to 2 Uncommon Mutations of the CYP21A2 GeneGuy Massa0Philippe Gillis1Marianne Schwartz2Department of Paediatrics, Jessa Ziekenhuis, B 3500 Hasselt, BelgiumDepartment of Paediatrics, Jessa Ziekenhuis, B 3500 Hasselt, BelgiumDepartment of Clinical Genetics, Rigshospitalet, University of Copenhagen, 2100 Copenhagen, DenmarkA Turkish boy was referred at the age of 3 6/12 years for the evaluation of a premature moustache. No other signs of virilisation were present. The endocrine evaluation led to the diagnosis of nonclassic congenital adrenal hyperplasia. Genetic analysis revealed 2 rare mutations of the CYP21A2 gene, the gene encoding for the 21-hydroxylase enzyme: a recently reported R132C mutation in exon 3 and a R339H mutation in exon 8, both reported in the nonclassic CAH. An early moustache, for which the term premature moustache can be coined, can be the presenting symptom of nonclassic CAH. In all children presenting with a sex or age inappropriate development of a moustache, an endocrine evaluation is indicated.http://dx.doi.org/10.1155/2011/913020 |
| spellingShingle | Guy Massa Philippe Gillis Marianne Schwartz Premature Moustache As Presenting Symptom of Nonclassic Congenital Adrenal Hyperplasia due to 2 Uncommon Mutations of the CYP21A2 Gene Case Reports in Genetics |
| title | Premature Moustache As Presenting Symptom of Nonclassic Congenital Adrenal Hyperplasia due to 2 Uncommon Mutations of the CYP21A2 Gene |
| title_full | Premature Moustache As Presenting Symptom of Nonclassic Congenital Adrenal Hyperplasia due to 2 Uncommon Mutations of the CYP21A2 Gene |
| title_fullStr | Premature Moustache As Presenting Symptom of Nonclassic Congenital Adrenal Hyperplasia due to 2 Uncommon Mutations of the CYP21A2 Gene |
| title_full_unstemmed | Premature Moustache As Presenting Symptom of Nonclassic Congenital Adrenal Hyperplasia due to 2 Uncommon Mutations of the CYP21A2 Gene |
| title_short | Premature Moustache As Presenting Symptom of Nonclassic Congenital Adrenal Hyperplasia due to 2 Uncommon Mutations of the CYP21A2 Gene |
| title_sort | premature moustache as presenting symptom of nonclassic congenital adrenal hyperplasia due to 2 uncommon mutations of the cyp21a2 gene |
| url | http://dx.doi.org/10.1155/2011/913020 |
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