Novel Androgen Receptor Gene Variant Containing a Premature Termination Codon in a Patient with Androgen Insensitivity Syndrome

Abstract

a b s t r a c tBackground: Androgen receptor (AR) mutations, which cause androgen insensitivity syndrome, impair the actions of 5a-dihydrotestosterone and testosterone, resulting in abnormal sexual development. In most cases, genetic aberrations of the AR are caused by substitutions, but also can result from mutations in splicing regions and deletions in the AR gene. Case: Our present report describes a female patient with 46,XY karyotype and normal female external genitalia. A novel de novo c.1669_1670insC insertion in the AR gene caused androgen insensitivity syndrome. Summary and Conclusion: This report provides a detailed clinical characterization of the patient and a possible pathogenic mechanism leading to androgen insensitivity syndrome and should be particularly useful in genetic counseling.

“Waking up” the sleeping metaphor of normality in connection to intersex or DSD: a scoping review of medical literature

“…In some papers (AbouZeid & Mohammad, 2020 ; Caputo et al, 2019 ; Chouhan et al, 2017 ; Heo et al, 2018 ; Hernández et al, 2016 ; Hertweck & Rothstein, 2019 ; Larios García & Bautista Delgado, 2016 ; Marei et al, 2016 ; Miller, 2019 ; Poyrazoglu et al, 2017 ; Pranckėnienė et al, 2019 ; Rich et al, 2016 ; Teasdale & Morton, 2017 ; Wu et al, 2017 ) normal was also employed to designate more abstract concepts (e.g. normal quality of life, normal sexual life, normal sex satisfaction), periods of the human life span (e.g.…”

“…testosterone, estrogen, luteinizing hormone (LH), follicle stimulating hormone (FSH), Anti-Müllerian hormone (AMH)), at times with the indication of a reference range (Adrião et al, 2020;Morandi et al, 2018;Raveendran et al, 2019;Şimşek et al, 2016;Sperling & Meyer, 2017;Teasdale & Morton, 2017;Wu et al, 2017;Xu et al, 2018). A few articles (Heo et al, 2018;Khare et al, 2017;Larios García & Bautista Delgado, 2016;Mirshahvalad et al, 2018;Özdemir et al, 2019;Pranckėnienė et al, 2019) also referred to secondary sex characteristics such as breasts (e.g. normal breast development) and hair (e.g.…”

“…normal hair growth, normal pubic hair development, normal facial and axillary hair). Given that these secondary sex features mark adult maturation, also pubertal processes were regularly cited in the literature (Fabbri et al, 2016;Greeley et al, 2017;Heo et al, 2018;Hernández et al, 2016;Hertweck & Rothstein, 2019;Huang et al, 2019;Hunter et al, 2016;Kearsey & Hutson, 2017;Mirshahvalad et al, 2018;Morandi et al, 2018;Özdemir et al, 2019;Pranckėnienė et al, 2019;Schteingart et al, 2019). Examples include: normal pubertal development, normal puberty, normal growth, normal menstruation, abnormal virilization, normally masculinized males, sexually abnormal, normal fertility, reproductive abnormalities, normal fertility potential) (see Fig.…”