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[Deletion of thymine at position 2298 in exon 5 of the androgenic receptor gene causing complete androgen insensitivity syndrome].
An Esp Pediatr. 2002 Apr; 56(4):347-52.AE

Abstract

BACKGROUND

Androgen insensitivity syndrome is an X-linked disorder of male sexual differentiation caused by mutations in the androgen receptor gene and resulting in a wide range of phenotypes.

OBJECTIVE

To study the androgen receptor gene in two cousins with androgen insensitivity syndrome.

PATIENTS AND METHODS

We present two patients who attended our clinic for primary amenorrhea. The phenotype and external genitalia were female. Pelvic ultrasonography showed the absence of uterus and female internal genitalia. In both patients the karyotype was 46 XY and consequently both patients underwent bilateral gonadectomy. Histological examination confirmed that the gonads were testes. Molecular study of the androgen receptor gene was performed to confirm androgen insensitivity syndrome.

RESULTS

Both patients showed a thymine deletion in exon 5 at nucleotide 2298 (codon CCT for proline 766) of the androgen receptor gene, causing their phenotype.

CONCLUSIONS

To confirm androgen insensitivity syndrome,t he androgen receptor gene should be analyzed for mutations, although the relationship between genotype and phenotype is weak. To detect carriers of the mutation, karyotyping and study of the androgen receptor gene should be performed in girls who are first relative of the probands.

Authors+Show Affiliations

Secciones de Endocrinologia, Departamento de Pediatria, Hospital Universitario, Infantil del Nino Jesus, Madrid, Spain.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Comparative Study
English Abstract
Journal Article
Research Support, Non-U.S. Gov't

Language

spa

PubMed ID

11927080

Citation

Soriano Guillén, L, et al. "[Deletion of Thymine at Position 2298 in Exon 5 of the Androgenic Receptor Gene Causing Complete Androgen Insensitivity Syndrome]." Anales Espanoles De Pediatria, vol. 56, no. 4, 2002, pp. 347-52.
Soriano Guillén L, Muñoz Calvo MT, Martinez Pérez J, et al. [Deletion of thymine at position 2298 in exon 5 of the androgenic receptor gene causing complete androgen insensitivity syndrome]. An Esp Pediatr. 2002;56(4):347-52.
Soriano Guillén, L., Muñoz Calvo, M. T., Martinez Pérez, J., Pozo Román, J., Martín Sobrino, M. A., González Medeiro, I., & Argente Oliver, J. (2002). [Deletion of thymine at position 2298 in exon 5 of the androgenic receptor gene causing complete androgen insensitivity syndrome]. Anales Espanoles De Pediatria, 56(4), 347-52.
Soriano Guillén L, et al. [Deletion of Thymine at Position 2298 in Exon 5 of the Androgenic Receptor Gene Causing Complete Androgen Insensitivity Syndrome]. An Esp Pediatr. 2002;56(4):347-52. PubMed PMID: 11927080.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - [Deletion of thymine at position 2298 in exon 5 of the androgenic receptor gene causing complete androgen insensitivity syndrome]. AU - Soriano Guillén,L, AU - Muñoz Calvo,M T, AU - Martinez Pérez,J, AU - Pozo Román,J, AU - Martín Sobrino,M A, AU - González Medeiro,I, AU - Argente Oliver,J, PY - 2002/4/3/pubmed PY - 2002/9/21/medline PY - 2002/4/3/entrez SP - 347 EP - 52 JF - Anales espanoles de pediatria JO - An Esp Pediatr VL - 56 IS - 4 N2 - BACKGROUND: Androgen insensitivity syndrome is an X-linked disorder of male sexual differentiation caused by mutations in the androgen receptor gene and resulting in a wide range of phenotypes. OBJECTIVE: To study the androgen receptor gene in two cousins with androgen insensitivity syndrome. PATIENTS AND METHODS: We present two patients who attended our clinic for primary amenorrhea. The phenotype and external genitalia were female. Pelvic ultrasonography showed the absence of uterus and female internal genitalia. In both patients the karyotype was 46 XY and consequently both patients underwent bilateral gonadectomy. Histological examination confirmed that the gonads were testes. Molecular study of the androgen receptor gene was performed to confirm androgen insensitivity syndrome. RESULTS: Both patients showed a thymine deletion in exon 5 at nucleotide 2298 (codon CCT for proline 766) of the androgen receptor gene, causing their phenotype. CONCLUSIONS: To confirm androgen insensitivity syndrome,t he androgen receptor gene should be analyzed for mutations, although the relationship between genotype and phenotype is weak. To detect carriers of the mutation, karyotyping and study of the androgen receptor gene should be performed in girls who are first relative of the probands. SN - 0302-4342 UR - https://www.unboundmedicine.com/medline/citation/11927080/[Deletion_of_thymine_at_position_2298_in_exon_5_of_the_androgenic_receptor_gene_causing_complete_androgen_insensitivity_syndrome]_ L2 - http://www.diseaseinfosearch.org/result/436 DB - PRIME DP - Unbound Medicine ER -