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Long-term followup and comparison between genotype and phenotype in 29 cases of complete androgen insensitivity syndrome.
J Urol. 2008 Oct; 180(4):1496-501.JU

Abstract

PURPOSE

Diagnosis and management of the complete androgen insensitivity syndrome have dramatically changed in the last few decades, with earlier diagnosis and the development of molecular biology. Some phenotypic features such as development of wolffian and mullerian remnants have been suggested to be an index of subtle residual androgen activity. Variations of these features clearly exist among patients and may influence treatment. Our aim was to assess the safety of keeping gonads in place for spontaneous puberty in a cohort of patients with genetically proved complete androgen insensitivity syndrome. In parallel to the risks of virilization at puberty and gonadal tumor some additional features, such as need for vaginal surgery, were investigated.

MATERIALS AND METHODS

We studied the genotype, phenotype, anatomy of the internal and external genitalia, and clinical outcome of 29 cases of complete androgen insensitivity syndrome, managed by the same team from diagnosis (frequently in early childhood) to adulthood.

RESULTS

All patients had a complete female phenotype. A total of 19 different mutations (including 7 unreported) were found. Each family presented with a different mutation. No somatic mosaicism was detected. Vas deferens and epididymis were found in all types of mutations (missense, nonsense and frameshift). Of the patients 23 were postpubertal (19 spontaneously). No postpubertal virilization occurred. Only 1 carcinoma in situ was detected (postpubertally). Vaginal surgery was rarely necessary.

CONCLUSIONS

Our data advocate for keeping the gonads in the complete androgen insensitivity syndrome, at least until completion of spontaneous puberty. The risk of virilization at puberty should be ruled out for each androgen receptor mutation before management decisions and genetic counseling. Vaginal surgery should not be indicated as first line treatment.

Authors+Show Affiliations

Department of Pediatric Surgery, APHP Hôpital Necker-Enfants Malades and Université Paris Descartes, Paris, France.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Comparative Study
Journal Article

Language

eng

PubMed ID

18710728

Citation

Cheikhelard, Alaa, et al. "Long-term Followup and Comparison Between Genotype and Phenotype in 29 Cases of Complete Androgen Insensitivity Syndrome." The Journal of Urology, vol. 180, no. 4, 2008, pp. 1496-501.
Cheikhelard A, Morel Y, Thibaud E, et al. Long-term followup and comparison between genotype and phenotype in 29 cases of complete androgen insensitivity syndrome. J Urol. 2008;180(4):1496-501.
Cheikhelard, A., Morel, Y., Thibaud, E., Lortat-Jacob, S., Jaubert, F., Polak, M., & Nihoul-Fekete, C. (2008). Long-term followup and comparison between genotype and phenotype in 29 cases of complete androgen insensitivity syndrome. The Journal of Urology, 180(4), 1496-501. https://doi.org/10.1016/j.juro.2008.06.045
Cheikhelard A, et al. Long-term Followup and Comparison Between Genotype and Phenotype in 29 Cases of Complete Androgen Insensitivity Syndrome. J Urol. 2008;180(4):1496-501. PubMed PMID: 18710728.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Long-term followup and comparison between genotype and phenotype in 29 cases of complete androgen insensitivity syndrome. AU - Cheikhelard,Alaa, AU - Morel,Yves, AU - Thibaud,Elisabeth, AU - Lortat-Jacob,Stephen, AU - Jaubert,Francis, AU - Polak,Michel, AU - Nihoul-Fekete,Claire, Y1 - 2008/08/16/ PY - 2008/02/13/received PY - 2008/8/20/pubmed PY - 2008/10/1/medline PY - 2008/8/20/entrez SP - 1496 EP - 501 JF - The Journal of urology JO - J Urol VL - 180 IS - 4 N2 - PURPOSE: Diagnosis and management of the complete androgen insensitivity syndrome have dramatically changed in the last few decades, with earlier diagnosis and the development of molecular biology. Some phenotypic features such as development of wolffian and mullerian remnants have been suggested to be an index of subtle residual androgen activity. Variations of these features clearly exist among patients and may influence treatment. Our aim was to assess the safety of keeping gonads in place for spontaneous puberty in a cohort of patients with genetically proved complete androgen insensitivity syndrome. In parallel to the risks of virilization at puberty and gonadal tumor some additional features, such as need for vaginal surgery, were investigated. MATERIALS AND METHODS: We studied the genotype, phenotype, anatomy of the internal and external genitalia, and clinical outcome of 29 cases of complete androgen insensitivity syndrome, managed by the same team from diagnosis (frequently in early childhood) to adulthood. RESULTS: All patients had a complete female phenotype. A total of 19 different mutations (including 7 unreported) were found. Each family presented with a different mutation. No somatic mosaicism was detected. Vas deferens and epididymis were found in all types of mutations (missense, nonsense and frameshift). Of the patients 23 were postpubertal (19 spontaneously). No postpubertal virilization occurred. Only 1 carcinoma in situ was detected (postpubertally). Vaginal surgery was rarely necessary. CONCLUSIONS: Our data advocate for keeping the gonads in the complete androgen insensitivity syndrome, at least until completion of spontaneous puberty. The risk of virilization at puberty should be ruled out for each androgen receptor mutation before management decisions and genetic counseling. Vaginal surgery should not be indicated as first line treatment. SN - 1527-3792 UR - https://www.unboundmedicine.com/medline/citation/18710728/Long_term_followup_and_comparison_between_genotype_and_phenotype_in_29_cases_of_complete_androgen_insensitivity_syndrome_ L2 - https://www.jurology.com/doi/10.1016/j.juro.2008.06.045?url_ver=Z39.88-2003&rfr_id=ori:rid:crossref.org&rfr_dat=cr_pub=pubmed DB - PRIME DP - Unbound Medicine ER -