Androgen insensitivity syndrome: a review

Archives of Endocrinology and Metabolism
Rafael Loch BatistaBerenice B Mendonca

Abstract

Androgenic insensitivity syndrome is the most common cause of disorders of sexual differentiation in 46,XY individuals. It results from alterations in the androgen receptor gene, leading to a frame of hormonal resistance, which may present clinically under 3 phenotypes: complete (CAIS), partial (PAIS) or mild (MAIS). The androgen receptor gene has 8 exons and 3 domains, and allelic variants in this gene occur in all domains and exons, regardless of phenotype, providing a poor genotype - phenotype correlation in this syndrome. Typically, laboratory diagnosis is made through elevated levels of LH and testosterone, with little or no virilization. Treatment depends on the phenotype and social sex of the individual. Open issues in the management of androgen insensitivity syndromes includes decisions on sex assignment, timing of gonadectomy, fertility, physcological outcomes and genetic counseling.

References

Dec 1, 1991·American Journal of Obstetrics and Gynecology·J W AkinP G McDonough
Sep 1, 1995·Journal of Pediatric Surgery·N HandaM Nagoshi
Mar 23, 1999·Archives of Disease in Childhood·S F AhmedI A Hughes
Jan 22, 2003·International Journal of Andrology·O Hiort, P-M Holterhus
Feb 8, 2003·Molecular and Cellular Endocrinology·J Imperato-McGinley, Y-S Zhu
Jun 1, 1953·American Journal of Obstetrics and Gynecology·J M MORRIS
Mar 18, 2006·Arquivos brasileiros de endocrinologia e metabologia·Karla F S MeloIvo J P Arnhold
Jun 15, 2006·Best Practice & Research. Clinical Endocrinology & Metabolism·Enrico Carmina
Nov 2, 2006·Osteoporosis International : a Journal Established As Result of Cooperation Between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA·D L S DanilovicI J P Arnhold
Sep 19, 2007·Best Practice & Research. Clinical Endocrinology & Metabolism·Leendert H J LooijengaKatja P Wolffenbuttel
Dec 10, 2008·Journal of Pediatric and Adolescent Gynecology·Meghan B OakesYolanda R Smith
Jun 15, 2010·Best Practice & Research. Clinical Endocrinology & Metabolism·Berenice B MendoncaSorahia Domenice
Jun 15, 2010·Best Practice & Research. Clinical Endocrinology & Metabolism·P T Cohen-Kettenis
Jun 16, 2010·Archives of Disease in Childhood. Fetal and Neonatal Edition·Harriet L MilesIeuan A Hughes
Jul 24, 2010·The Journal of Urology·Maria Helena Palma SirciliBerenice Bilharinho de Mendonca
Jun 22, 2011·Advances in Experimental Medicine and Biology·Ivo J P ArnholdBerenice B Mendonca
Feb 16, 2012·Human Mutation·Bruce GottliebMark Trifiro
Mar 13, 2012·Molecular and Cellular Endocrinology·Liesbeth ClinckemalieFrank Claessens
Oct 10, 2012·Seminars in Reproductive Medicine·Ieuan Arwel HughesOlaf Hiort
Feb 15, 2013·Muscle & Nerve·Kenneth H Fischbeck
Nov 5, 2013·Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc·Jana Kaprova-PleskacovaLeendert H J Looijenga
Jun 10, 2014·Acta Pharmacologica Sinica·Mh Eileen TanEu-Leong Yong
Jul 16, 2014·Nature Reviews. Endocrinology·Olaf HiortPaul-Martin Holterhus
Sep 24, 2014·Endocrine Development·Yvonne G van der ZwanLeendert H J Looijenga
Sep 24, 2014·Endocrine Development·Martine CoolsGuy T'Sjoen
Oct 30, 2014·Current Opinion in Endocrinology, Diabetes, and Obesity·Berenice B Mendonca
Jan 20, 2015·European Journal of Obstetrics, Gynecology, and Reproductive Biology·Sylvia A HayashidaEdmund C Baracat
Jan 24, 2015·Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation·Ulla DoehnertOlaf Hiort
Jan 31, 2015·Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation·José A Bermúdez de la VegaLaura Audí
May 6, 2015·Nature Reviews. Endocrinology·John C AchermannBerenice B Mendonca
Aug 26, 2015·Best Practice & Research. Clinical Endocrinology & Metabolism·Nigel P MonganIeuan A Hughes
May 11, 2016·The Journal of Steroid Biochemistry and Molecular Biology·Berenice B MendoncaSorahia Domenice
May 26, 2016·The Journal of Steroid Biochemistry and Molecular Biology·Berenice B MendoncaJean D Wilson
Oct 28, 2016·Translational Andrology and Urology·Martin Kathrins, Thomas F Kolon
Feb 7, 2017·Nature Communications·Marta NadalEva Estébanez-Perpiñá

❮ Previous
Next ❯

Citations

Nov 6, 2018·The Journal of Clinical Endocrinology and Metabolism·Rafael Loch BatistaBerenice Bilharinho Mendonça
Nov 20, 2018·Gynecological Endocrinology : the Official Journal of the International Society of Gynecological Endocrinology·Marzena Maciejewska-JeskeMaciej Kurpisz
Apr 24, 2019·Journal of Investigative Surgery : the Official Journal of the Academy of Surgical Research·Nurin A ListyasariSultana Mh Faradz
Aug 10, 2019·Journal of Investigative Surgery : the Official Journal of the Academy of Surgical Research·Rafael Loch Batista
Aug 9, 2019·The Journal of Clinical Endocrinology and Metabolism·Rafael Loch BatistaBerenice Bilharinho Mendonca
Nov 2, 2019·International Journal of Molecular Sciences·Agnieszka MalcherMaciej Kurpisz
May 16, 2020·International Journal of Endocrinology·Vito A GiagulliAntonio Mancini
Apr 12, 2019·International Journal of Environmental Research and Public Health·Lucia LanciottiSusanna Esposito
Sep 16, 2020·International Journal of Molecular Sciences·Martin A Estermann, Craig A Smith
Aug 1, 2019·Endocrine Reviews·Amy B WisniewskiBerenice B Mendonca
Apr 30, 2020·Reproductive Biology and Endocrinology : RB&E·Qingxu LiuPin Li
Jun 26, 2020·The Journal of Clinical Endocrinology and Metabolism·Jeremy T Choy, John K Amory
Nov 18, 2020·Eating and Weight Disorders : EWD·E ManzatoE Roncarati
Nov 25, 2020·Annual Review of Genetics·Nahid Punjani, Dolores J Lamb
Jan 31, 2021·International Journal of Molecular Sciences·Nina TyutyushevaSilvano Bertelloni
Nov 29, 2020·Journal of Pediatric and Adolescent Gynecology·Lise DuranteauUNKNOWN dsd-LIFE group
Jan 5, 2021·Best Practice & Research. Clinical Endocrinology & Metabolism·Vanessa N PeñaAmin S Herati
Mar 23, 2021·Fertility and Sterility·Ruben Blachman-Braun, Daniel C Gonzalez
Apr 8, 2021·Reproductive Sciences·Jennifer M McCrackenJulie C E Hakim
Apr 13, 2021·JAMA Pediatrics·Benjamin GastonJoe Zein
May 8, 2021·Gynecological Endocrinology : the Official Journal of the International Society of Gynecological Endocrinology·Karolina SkalskaBłażej Męczekalski
Nov 13, 2020·Physiological Reviews·Yoshitaka NagahamaMasaru Nakamura
Jul 2, 2021·Systems Biology in Reproductive Medicine·Hossein HosseiniradYousef Sadeghi
Aug 4, 2021·The Journal of Obstetrics and Gynaecology Research·Junke XiaXiangdong Kong
Sep 8, 2021·Italian Journal of Pediatrics·Francesco BaldoGianluca Tornese

❮ Previous
Next ❯

Related Concepts

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Blastomycosis

Blastomycosis fungal infections spread through inhaling Blastomyces dermatitidis spores. Discover the latest research on blastomycosis fungal infections here.

Nuclear Pore Complex in ALS/FTD

Alterations in nucleocytoplasmic transport, controlled by the nuclear pore complex, may be involved in the pathomechanism underlying multiple neurodegenerative diseases including Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Here is the latest research on the nuclear pore complex in ALS and FTD.

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Evolution of Pluripotency

Pluripotency refers to the ability of a cell to develop into three primary germ cell layers of the embryo. This feed focuses on the mechanisms that underlie the evolution of pluripotency. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.

Microbicide

Microbicides are products that can be applied to vaginal or rectal mucosal surfaces with the goal of preventing, or at least significantly reducing, the transmission of sexually transmitted infections. Here is the latest research on microbicides.

Related Papers

The Journal of Clinical Endocrinology and Metabolism
L AudiGrupo de Apoyo al Síndrome de Insensibilidad a los Andrógenos (GrApSIA)
Journal of Pediatric Endocrinology & Metabolism : JPEM
Rafael Loch BatistaSorahia Domenice
Best Practice & Research. Clinical Endocrinology & Metabolism
I A Hughes, Asma Deeb
Seminars in Reproductive Medicine
I A HughesOlaf Hiort
© 2022 Meta ULC. All rights reserved