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Identification of a novel mutation in exon 1 of androgen receptor gene in an azoospermic patient with mild androgen insensitivity syndrome: case report and literature review.
Fertil Steril. 2011 Nov; 96(5):1165-9.FS

Abstract

OBJECTIVE

To report a case of an azoospermic subject with mild androgen insensitivity syndrome (MAIS) and review the relevant literature.

DESIGN

Case report.

SETTING

Academic research hospital.

PATIENT(S)

A 49-year-old man with undermasculinized features and a history of cryptorchidism and azoospermia.

INTERVENTION(S)

Hormonal evaluation and genetic testing of the androgen receptor gene (AR).

MAIN OUTCOME MEASURE(S)

Hormonal levels and sequence chromatogram of the proband and his mother.

RESULT(S)

We found total T in the normal range and high levels of gonadotropins. Karyotype was 46,XY. Genetic testing identified a novel mutation of exon 1 of AR, which resulted in an alanine to serine substitution in the transactivation domain at codon 240 (A240S). Fourteen other mutations of exon 1 of AR have been associated with MAIS to date.

CONCLUSION(S)

The novel mutation A240S of AR is involved in MAIS, a syndrome associated with azoospermia.

Authors+Show Affiliations

Department of Endocrinological and Medical Sciences, University of Genova, Genova, Italy. umberto.goglia@libero.itNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article
Review

Language

eng

PubMed ID

21962961

Citation

Goglia, Umberto, et al. "Identification of a Novel Mutation in Exon 1 of Androgen Receptor Gene in an Azoospermic Patient With Mild Androgen Insensitivity Syndrome: Case Report and Literature Review." Fertility and Sterility, vol. 96, no. 5, 2011, pp. 1165-9.
Goglia U, Vinanzi C, Zuccarello D, et al. Identification of a novel mutation in exon 1 of androgen receptor gene in an azoospermic patient with mild androgen insensitivity syndrome: case report and literature review. Fertil Steril. 2011;96(5):1165-9.
Goglia, U., Vinanzi, C., Zuccarello, D., Malpassi, D., Ameri, P., Casu, M., Minuto, F., Foresta, C., & Ferone, D. (2011). Identification of a novel mutation in exon 1 of androgen receptor gene in an azoospermic patient with mild androgen insensitivity syndrome: case report and literature review. Fertility and Sterility, 96(5), 1165-9. https://doi.org/10.1016/j.fertnstert.2011.08.033
Goglia U, et al. Identification of a Novel Mutation in Exon 1 of Androgen Receptor Gene in an Azoospermic Patient With Mild Androgen Insensitivity Syndrome: Case Report and Literature Review. Fertil Steril. 2011;96(5):1165-9. PubMed PMID: 21962961.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Identification of a novel mutation in exon 1 of androgen receptor gene in an azoospermic patient with mild androgen insensitivity syndrome: case report and literature review. AU - Goglia,Umberto, AU - Vinanzi,Cinzia, AU - Zuccarello,Daniela, AU - Malpassi,Davide, AU - Ameri,Pietro, AU - Casu,Massimo, AU - Minuto,Francesco, AU - Foresta,Carlo, AU - Ferone,Diego, Y1 - 2011/09/29/ PY - 2011/04/30/received PY - 2011/08/10/revised PY - 2011/08/25/accepted PY - 2011/10/4/entrez PY - 2011/10/4/pubmed PY - 2011/12/16/medline SP - 1165 EP - 9 JF - Fertility and sterility JO - Fertil Steril VL - 96 IS - 5 N2 - OBJECTIVE: To report a case of an azoospermic subject with mild androgen insensitivity syndrome (MAIS) and review the relevant literature. DESIGN: Case report. SETTING: Academic research hospital. PATIENT(S): A 49-year-old man with undermasculinized features and a history of cryptorchidism and azoospermia. INTERVENTION(S): Hormonal evaluation and genetic testing of the androgen receptor gene (AR). MAIN OUTCOME MEASURE(S): Hormonal levels and sequence chromatogram of the proband and his mother. RESULT(S): We found total T in the normal range and high levels of gonadotropins. Karyotype was 46,XY. Genetic testing identified a novel mutation of exon 1 of AR, which resulted in an alanine to serine substitution in the transactivation domain at codon 240 (A240S). Fourteen other mutations of exon 1 of AR have been associated with MAIS to date. CONCLUSION(S): The novel mutation A240S of AR is involved in MAIS, a syndrome associated with azoospermia. SN - 1556-5653 UR - https://www.unboundmedicine.com/medline/citation/21962961/Identification_of_a_novel_mutation_in_exon_1_of_androgen_receptor_gene_in_an_azoospermic_patient_with_mild_androgen_insensitivity_syndrome:_case_report_and_literature_review_ L2 - https://linkinghub.elsevier.com/retrieve/pii/S0015-0282(11)02484-8 DB - PRIME DP - Unbound Medicine ER -