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Sex-reversed phenotype in association with two novel mutations c.2494delA and c.T3004C in the ligand-binding domain of the androgen receptor gene.
Fertil Steril. 2008 Nov; 90(5):2008.e1-4.FS

Abstract

OBJECTIVE

To establish the diagnosis of complete androgen insensitivity syndrome (CAIS) in two patients with characteristic clinical and hormonal findings, relative family history in one of them, and unusual Müllerian remnants in the other.

DESIGN

Case report.

SETTING

Research laboratory in the Department of Medical Genetics at a university children's hospital.

PATIENT(S)

Two patients with 46,XY sex reversal and two maternal aunts of the first patient with the same clinical condition were tested.

INTERVENTION(S)

Bilateral gonadectomy was performed on both patients.

MAIN OUTCOME MEASURE(S)

Genetic counseling, cancer prophylaxis, hormone substitution therapy.

RESULT(S)

Molecular analysis revealed two novel mutations, a frameshift familial (c.2494delA) in patient 1 and a missense sporadic (c.T3004C) in patient 2. The c.2494delA mutation was also detected in two of the three affected maternal aunts of patient 1. Patient 2 presents an unusual persistence of Müllerian structures.

CONCLUSION(S)

Genetic counseling of potential women carriers of androgen receptor (AR) mutations is crucial for the early diagnosis of the affected offspring. The presence of Müllerian remnants, although rare, should not exclude the diagnosis of CAIS. Both identified mutations are novel and provide further evidence for the correlation between specific AR mutations and phenotype.

Authors+Show Affiliations

Department of Medical Genetics, Athens University School of Medicine, Aghia Sofia Children's Hospital, Athens, Greece. agalani@med.uoa.grNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

18342859

Citation

Galani, Angeliki, et al. "Sex-reversed Phenotype in Association With Two Novel Mutations c.2494delA and c.T3004C in the Ligand-binding Domain of the Androgen Receptor Gene." Fertility and Sterility, vol. 90, no. 5, 2008, pp. 2008.e1-4.
Galani A, Sofocleous C, Karahaliou F, et al. Sex-reversed phenotype in association with two novel mutations c.2494delA and c.T3004C in the ligand-binding domain of the androgen receptor gene. Fertil Steril. 2008;90(5):2008.e1-4.
Galani, A., Sofocleous, C., Karahaliou, F., Papathanasiou, A., Kitsiou-Tzeli, S., & Kalpini-Mavrou, A. (2008). Sex-reversed phenotype in association with two novel mutations c.2494delA and c.T3004C in the ligand-binding domain of the androgen receptor gene. Fertility and Sterility, 90(5), e1-4. https://doi.org/10.1016/j.fertnstert.2008.01.030
Galani A, et al. Sex-reversed Phenotype in Association With Two Novel Mutations c.2494delA and c.T3004C in the Ligand-binding Domain of the Androgen Receptor Gene. Fertil Steril. 2008;90(5):2008.e1-4. PubMed PMID: 18342859.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Sex-reversed phenotype in association with two novel mutations c.2494delA and c.T3004C in the ligand-binding domain of the androgen receptor gene. AU - Galani,Angeliki, AU - Sofocleous,Christalena, AU - Karahaliou,Feneli, AU - Papathanasiou,Asteroula, AU - Kitsiou-Tzeli,Sofia, AU - Kalpini-Mavrou,Ariadni, Y1 - 2008/03/14/ PY - 2007/11/01/received PY - 2008/01/07/revised PY - 2008/01/07/accepted PY - 2008/3/18/pubmed PY - 2008/12/17/medline PY - 2008/3/18/entrez SP - 2008.e1 EP - 4 JF - Fertility and sterility JO - Fertil Steril VL - 90 IS - 5 N2 - OBJECTIVE: To establish the diagnosis of complete androgen insensitivity syndrome (CAIS) in two patients with characteristic clinical and hormonal findings, relative family history in one of them, and unusual Müllerian remnants in the other. DESIGN: Case report. SETTING: Research laboratory in the Department of Medical Genetics at a university children's hospital. PATIENT(S): Two patients with 46,XY sex reversal and two maternal aunts of the first patient with the same clinical condition were tested. INTERVENTION(S): Bilateral gonadectomy was performed on both patients. MAIN OUTCOME MEASURE(S): Genetic counseling, cancer prophylaxis, hormone substitution therapy. RESULT(S): Molecular analysis revealed two novel mutations, a frameshift familial (c.2494delA) in patient 1 and a missense sporadic (c.T3004C) in patient 2. The c.2494delA mutation was also detected in two of the three affected maternal aunts of patient 1. Patient 2 presents an unusual persistence of Müllerian structures. CONCLUSION(S): Genetic counseling of potential women carriers of androgen receptor (AR) mutations is crucial for the early diagnosis of the affected offspring. The presence of Müllerian remnants, although rare, should not exclude the diagnosis of CAIS. Both identified mutations are novel and provide further evidence for the correlation between specific AR mutations and phenotype. SN - 1556-5653 UR - https://www.unboundmedicine.com/medline/citation/18342859/Sex_reversed_phenotype_in_association_with_two_novel_mutations_c_2494delA_and_c_T3004C_in_the_ligand_binding_domain_of_the_androgen_receptor_gene_ L2 - https://linkinghub.elsevier.com/retrieve/pii/S0015-0282(08)00037-X DB - PRIME DP - Unbound Medicine ER -