[39] The average number of repetitions varies by ethnicity, with Caucasians exhibiting an average of 21 CAG repeats, and Blacks 18. Every child is affected in different ways. The Royal Children's Hospital Melbourne accepts no responsibility for any inaccuracies, information perceived as misleading, or the success of any treatment regimen detailed in these handouts. [11] Longer polyglycine tract lengths have also been associated with genital masculinization defects in some,[52][53] but not all,[54] studies. professionals. [30] SBMA is often misdiagnosed as amyotrophic lateral sclerosis (ALS) (also known as Lou Gehrig's disease). Most children will require the input of speech therapists, physiotherapists and other allied health [55][56] As is the case with PAIS, men with MAIS will experience side effects from androgen therapy (such as the suppression of the hypothalamic-pituitary-gonadal axis) at a higher dosage than unaffected men. Trinucleotide satellite lengths and AR transcriptional activity, Genetics of androgen insensitivity syndrome, Diagnosis of androgen insensitivity syndrome, "Androgen insensitivity syndrome: clinical features and molecular defects", "An androgen receptor gene mutation (E653K) in a family with congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency as well as in partial androgen insensitivity", "Male infertility and the involvement of the X chromosome", "Male infertility and variation in CAG repeat length in the androgen receptor gene: a meta-analysis", "Impaired nuclear translocation, nuclear matrix targeting, and intranuclear mobility of mutant androgen receptors carrying amino acid substitutions in the deoxyribonucleic acid-binding domain derived from androgen insensitivity syndrome patients", "Assessment of the gonadotrophin-gonadal axis in androgen insensitivity syndrome", "Androgen receptor gene and male infertility", "Human minimal androgen insensitivity with normal dihydrotestosterone-binding capacity in cultured genital skin fibroblasts: evidence for an androgen-selective qualitative abnormality of the receptor", "Androgen Insensitivity Syndrome | Encyclopedia.com", "Trinucleotide repeats in the human androgen receptor: a molecular basis for disease", "Male fertility is compatible with an Arg(840)Cys substitution in the AR in a large Chinese family affected with divergent phenotypes of AR insensitivity syndrome", 10.1002/(SICI)1096-8628(19990730)85:3<209::AID-AJMG4>3.0.CO;2-2, "Novel (60%) and recurrent (40%) androgen receptor gene mutations in a series of 59 patients with a 46,XY disorder of sex development", 10.1002/(SICI)1096-8628(19991229)89:4<210::AID-AJMG5>3.0.CO;2-P, "Longer polyglutamine tracts in the androgen receptor are associated with moderate to severe undermasculinized genitalia in XY males", "Hypospadias and the androgen receptor gene: mutation screening and CAG repeat length analysis", "Linkage between cryptorchidism, hypospadias, and GGN repeat length in the androgen receptor gene", "Consensus statement on management of intersex disorders", Familial dysalbuminemic hyperthyroxinemia, 17β-hydroxysteroid dehydrogenase deficiency, Autoimmune polyendocrine syndrome multiple, X-linked severe combined immunodeficiency, Glucose-6-phosphate dehydrogenase deficiency, Danon disease/glycogen storage disease Type IIb, Alpha-thalassemia mental retardation syndrome, Siderius X-linked mental retardation syndrome, Color blindness (red and green, but not blue), Yemenite deaf-blind hypopigmentation syndrome, Ectrodactyly–ectodermal dysplasia–cleft syndrome 3, https://en.wikipedia.org/w/index.php?title=Mild_androgen_insensitivity_syndrome&oldid=979777506, Creative Commons Attribution-ShareAlike License, This page was last edited on 22 September 2020, at 18:56.

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