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Testicular position in the androgen insensitivity syndrome: implications for the role of androgens in testicular descent.
J Urol. 2000 Aug; 164(2):497-501.JU

Abstract

PURPOSE

We compared testicular position with genital phenotype in a clinical series and a literature review of androgen receptor mutations to assess the role of androgens in testicular descent.

MATERIALS AND METHODS

Our clinical reports, the androgen receptor mutations database and selected literature were reviewed. Subjects with a proved androgen receptor mutation were included in our study when a female or ambiguous phenotype was present (Quigley grade 3 to 7) and testicular position was documented. Comparison among groups was done by Fisher's exact or chi-square test.

RESULTS

Of the 7 patients with detailed clinical records 5 had abdominal (bilateral in 4) and 2 had bilateral inguinal testes. Four patients with abdominal testes also had aberrant pelvic ligaments extending medially from the gonads. Including an additional 102 cases identified in the literature, abdominal testes were present in 52% and 3% of those with complete and partial androgen insensitivity, respectively. The incidence of abdominal testes was highest (86%) in patients with a complete female phenotype and no pubic hair (grade 7). It decreased significantly with increasing masculinization and was higher in phenotypic females diagnosed at or after (67%) than in those identified before (22%) puberty. Hernia was associated with inguinal and abdominal testes.

CONCLUSIONS

Testicular position correlates with genital phenotype in patients with androgen receptor mutations, supporting a major role for androgens in testicular descent. Inguinal hernia and abnormal pelvic ligaments in these individuals may partially determine testicular position but to our knowledge the role of androgen receptors, if any, in their development is unknown.

Authors+Show Affiliations

Department of Urology, Children's Hospital of Michigan and Wayne State University School of Medicine, Detroit, Michigan, USA.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Review

Language

eng

PubMed ID

10893634

Citation

Barthold, J S., et al. "Testicular Position in the Androgen Insensitivity Syndrome: Implications for the Role of Androgens in Testicular Descent." The Journal of Urology, vol. 164, no. 2, 2000, pp. 497-501.
Barthold JS, Kumasi-Rivers K, Upadhyay J, et al. Testicular position in the androgen insensitivity syndrome: implications for the role of androgens in testicular descent. J Urol. 2000;164(2):497-501.
Barthold, J. S., Kumasi-Rivers, K., Upadhyay, J., Shekarriz, B., & Imperato-Mcginley, J. (2000). Testicular position in the androgen insensitivity syndrome: implications for the role of androgens in testicular descent. The Journal of Urology, 164(2), 497-501.
Barthold JS, et al. Testicular Position in the Androgen Insensitivity Syndrome: Implications for the Role of Androgens in Testicular Descent. J Urol. 2000;164(2):497-501. PubMed PMID: 10893634.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Testicular position in the androgen insensitivity syndrome: implications for the role of androgens in testicular descent. AU - Barthold,J S, AU - Kumasi-Rivers,K, AU - Upadhyay,J, AU - Shekarriz,B, AU - Imperato-Mcginley,J, PY - 2000/7/14/pubmed PY - 2000/9/19/medline PY - 2000/7/14/entrez SP - 497 EP - 501 JF - The Journal of urology JO - J Urol VL - 164 IS - 2 N2 - PURPOSE: We compared testicular position with genital phenotype in a clinical series and a literature review of androgen receptor mutations to assess the role of androgens in testicular descent. MATERIALS AND METHODS: Our clinical reports, the androgen receptor mutations database and selected literature were reviewed. Subjects with a proved androgen receptor mutation were included in our study when a female or ambiguous phenotype was present (Quigley grade 3 to 7) and testicular position was documented. Comparison among groups was done by Fisher's exact or chi-square test. RESULTS: Of the 7 patients with detailed clinical records 5 had abdominal (bilateral in 4) and 2 had bilateral inguinal testes. Four patients with abdominal testes also had aberrant pelvic ligaments extending medially from the gonads. Including an additional 102 cases identified in the literature, abdominal testes were present in 52% and 3% of those with complete and partial androgen insensitivity, respectively. The incidence of abdominal testes was highest (86%) in patients with a complete female phenotype and no pubic hair (grade 7). It decreased significantly with increasing masculinization and was higher in phenotypic females diagnosed at or after (67%) than in those identified before (22%) puberty. Hernia was associated with inguinal and abdominal testes. CONCLUSIONS: Testicular position correlates with genital phenotype in patients with androgen receptor mutations, supporting a major role for androgens in testicular descent. Inguinal hernia and abnormal pelvic ligaments in these individuals may partially determine testicular position but to our knowledge the role of androgen receptors, if any, in their development is unknown. SN - 0022-5347 UR - https://www.unboundmedicine.com/medline/citation/10893634/Testicular_position_in_the_androgen_insensitivity_syndrome:_implications_for_the_role_of_androgens_in_testicular_descent_ L2 - https://linkinghub.elsevier.com/retrieve/pii/S0022-5347(05)67411-3 DB - PRIME DP - Unbound Medicine ER -