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Partial androgen insensitivity syndrome with R840H mutation in androgen receptor: report of one case.
Acta Paediatr Taiwan. 2005 Mar-Apr; 46(2):101-5.AP

Abstract

Androgen insensitivity syndrome (AIS) is the major cause of male pseudohermaphroditism. The severity of the disorders varies widely, ranging from the phenotypic women with female external genitalia in cases of complete AIS to the phenotype of ambiguous genitalia in partial androgen insensitivity syndrome (PAIS) and a rare group of phenotypic normal males with azoospermia. Here, we report an infant of PAIS with a missense mutation at position 2881 (G-->A) in exon 7, encoding substitution of histidine for arginine at codon 840 of the androgen receptor (AR) gene. Both the biochemical and molecular studies are presented. Establishing the diagnosis of PAIS is very important for gender assignment to an infant of ambiguous genitalia. The molecular analysis will facilitate genetic counselling to the maternal side relatives for carrier detection and prenatal diagnosis.

Authors+Show Affiliations

Department of Pediatrics, Women's and Children's Hospital, Taipei City, Taiwan.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

16302589

Citation

Yen, Jui-Lung, et al. "Partial Androgen Insensitivity Syndrome With R840H Mutation in Androgen Receptor: Report of One Case." Acta Paediatrica Taiwanica = Taiwan Er Ke Yi Xue Hui Za Zhi, vol. 46, no. 2, 2005, pp. 101-5.
Yen JL, Chang KH, Sheu JC, et al. Partial androgen insensitivity syndrome with R840H mutation in androgen receptor: report of one case. Acta Paediatr Taiwan. 2005;46(2):101-5.
Yen, J. L., Chang, K. H., Sheu, J. C., Lee, Y. J., & Tsai, L. P. (2005). Partial androgen insensitivity syndrome with R840H mutation in androgen receptor: report of one case. Acta Paediatrica Taiwanica = Taiwan Er Ke Yi Xue Hui Za Zhi, 46(2), 101-5.
Yen JL, et al. Partial Androgen Insensitivity Syndrome With R840H Mutation in Androgen Receptor: Report of One Case. Acta Paediatr Taiwan. 2005 Mar-Apr;46(2):101-5. PubMed PMID: 16302589.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Partial androgen insensitivity syndrome with R840H mutation in androgen receptor: report of one case. AU - Yen,Jui-Lung, AU - Chang,Kuang-Huey, AU - Sheu,Jin-Cherng, AU - Lee,Yann-Jinn, AU - Tsai,Li-Ping, PY - 2005/11/24/pubmed PY - 2006/1/27/medline PY - 2005/11/24/entrez SP - 101 EP - 5 JF - Acta paediatrica Taiwanica = Taiwan er ke yi xue hui za zhi JO - Acta Paediatr Taiwan VL - 46 IS - 2 N2 - Androgen insensitivity syndrome (AIS) is the major cause of male pseudohermaphroditism. The severity of the disorders varies widely, ranging from the phenotypic women with female external genitalia in cases of complete AIS to the phenotype of ambiguous genitalia in partial androgen insensitivity syndrome (PAIS) and a rare group of phenotypic normal males with azoospermia. Here, we report an infant of PAIS with a missense mutation at position 2881 (G-->A) in exon 7, encoding substitution of histidine for arginine at codon 840 of the androgen receptor (AR) gene. Both the biochemical and molecular studies are presented. Establishing the diagnosis of PAIS is very important for gender assignment to an infant of ambiguous genitalia. The molecular analysis will facilitate genetic counselling to the maternal side relatives for carrier detection and prenatal diagnosis. SN - 1608-8115 UR - https://www.unboundmedicine.com/medline/citation/16302589/Partial_androgen_insensitivity_syndrome_with_R840H_mutation_in_androgen_receptor:_report_of_one_case_ L2 - http://www.diseaseinfosearch.org/result/438 DB - PRIME DP - Unbound Medicine ER -