Long-term followup and comparison between genotype and phenotype in 29 cases of complete androgen insensitivity syndrome

The Journal of Urology
Alaa CheikhelardClaire Nihoul-Fékété

Abstract

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. 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. 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 ...Continue Reading

References

Jun 1, 1995·Endocrine Reviews·C A QuigleyF S French
Sep 11, 2001·The Journal of Clinical Endocrinology and Metabolism·A L BoehmerS L Drop
Jan 15, 2002·The Journal of Clinical Endocrinology and Metabolism·Claire BouvattierJean-Louis Chaussain
Jan 26, 2002·European Journal of Pediatrics·Yves MorelNathalie Josso
Apr 25, 2003·Archives of Sexual Behavior·Melissa HinesIeuan A Hughes
Jun 1, 1953·American Journal of Obstetrics and Gynecology·J M MORRIS
May 18, 2004·Human Mutation·Bruce GottliebMark Trifiro
Nov 9, 2004·The Journal of Clinical Endocrinology and Metabolism·Sabine E HannemaIeuan A Hughes
Jan 10, 2006·The Journal of Pathology·S E HannemaI A Hughes
Jun 1, 2006·The Journal of Clinical Endocrinology and Metabolism·Vivian SobelJulianne Imperato-McGinley
Jun 1, 2006·Endocrine Reviews·Martine CoolsLeendert H J Looijenga

❮ Previous
Next ❯

Citations

Apr 2, 2010·Archives of Sexual Behavior·Guy T'SjoenMartine Cools
May 31, 2012·Molecular and Cellular Biology·Christine HelsenFrank Claessens
Oct 13, 2009·Endocrinology·Sheri A BerenbaumScott Moffat
May 3, 2014·Annales d'endocrinologie·Martine Cools
Jan 21, 2016·Nature Reviews. Urology·Alice FaureYves Heloury
Jun 16, 2012·Lancet·Ieuan A HughesJane MacDougall
May 3, 2012·The Journal of Sexual Medicine·Martina JürgensenUNKNOWN DSD Network Working Group
Nov 15, 2011·Journal of Pediatric Urology·Blake W PalmerBradley P Kropp
Sep 14, 2010·European Journal of Obstetrics, Gynecology, and Reproductive Biology·Shunchang SunWeiqing Wu
Dec 11, 2013·The Journal of Obstetrics and Gynaecology Research·Masatoshi YamaguchiTyuyomu Ikenoue
Aug 26, 2015·Best Practice & Research. Clinical Endocrinology & Metabolism·Nigel P MonganIeuan A Hughes
Nov 19, 2013·International Journal of Surgery Case Reports·Yusuf ArslanZeynep Kahyaoglu
Jan 18, 2015·The Journal of Urology·Julia Spencer Barthold
Jun 15, 2010·Best Practice & Research. Clinical Endocrinology & Metabolism·Leendert H J LooijengaKatja P Wolffenbuttel
Dec 29, 2013·Gynecologic Oncology Case Reports·Hiroshi TsubamotoHideaki Sawai
Mar 22, 2016·Cirugia y cirujanos·Ángel Herrera-GómezJosé Chanona-Vilchis
Sep 20, 2018·The New England Journal of Medicine·Christos CoutifarisEsther Oliva
Mar 3, 2012·Clinical and Experimental Reproductive Medicine·Hyun-Ok KimByung-Moon Kang
Mar 1, 2013·Arab Journal of Urology·Mohamed El-Sherbiny
Nov 1, 2009·Expert Review of Endocrinology & Metabolism·Alaa CheikhelardClaire Nihoul-Fekete
Apr 12, 2019·International Journal of Environmental Research and Public Health·Lucia LanciottiSusanna Esposito
Mar 1, 2013·Arab Journal of Urology·Hüseyin Özbey, Seref Etker
Jul 29, 2010·Journal of Pediatric Endocrinology & Metabolism : JPEM·M JürgensenUNKNOWN DSD Network Working Group
Mar 3, 2021·Seminars in Pediatric Surgery·Sabine Sarnacki
Apr 6, 2021·Annals of Pediatric Endocrinology & Metabolism·Beatriz Amstalden BarrosGil Guerra-Junior
Jun 3, 2021·International Journal of Environmental Research and Public Health·Sahra SteinmacherKatharina Rall
Sep 3, 2009·Current Opinion in Obstetrics & Gynecology
Oct 20, 2018·Hormone Research in Pædiatrics·Lloyd J W TackMartine Cools

❮ Previous
Next ❯

Related Concepts

Related Feeds

Cancer Imaging

Imaging techniques, including CT and MR, have become essential to tumor detection, diagnosis, and monitoring. Here is the latest research on cancer imaging.