Androgen receptor mutations [PDF]
, 1995 Male sexual differentiation and development proceed under direct control of androgens. Androgen action is mediated by the intracellular androgen receptor, which belongs to the superfamily of ligand-dependent transcription factors.
Boehmer, A.L.M. (Annemie) +6 more
core +1 more source
Complete androgen insensitivity syndrome and risk of gonadal malignancy: systematic review
Annals of Pediatric Endocrinology & Metabolism, 2021 Complete androgen insensitivity syndrome (CAIS) is a rare condition characterized by 46,XY karyotype, female external genitalia, absence of uterus, and testes located intra-abdominally, in the inguinal ring or in the labia majora.
B. A. Barros +5 more
semanticscholar +1 more source
2D:4D Suggests a Role of Prenatal Testosterone in Gender Dysphoria [PDF]
, 2020 Gender dysphoria (GD) reflects distress caused by incongruence between one’s experienced gender identity and one’s natal (assigned) gender. Previous studies suggest that high levels of prenatal testosterone (T) in natal females and low levels in natal ...
Fazeli, Nasrin +4 more
core +2 more sources
Fear of devaluation : understanding the experience of intersexed women with androgen insensitivity syndrome [PDF]
, 2004 Objectives: We aim to provide an understanding of the psychological sequela of Androgen Insensitivity Syndrome (AIS) in phenotypic females in order to begin to inform psychosocial health care services.
Alderson, J., Balen, A., Madill, A.
core +1 more source
OR27-07 Molecular Mechanism of Androgen Receptor Mutation in Multigenerational Mild Androgen Insensitivity Syndrome [PDF]
J Endocr SocRuby Chang +7 more
europepmc +3 more sources
Non-neural phenotype of spinal and bulbar muscular atrophy: Results from a large cohort of Italian patients [PDF]
, 2016 Objective: To carry out a deep characterisation of the main androgen-responsive tissues involved in spinal and bulbar muscular atrophy (SBMA). Methods: 73 consecutive Italian patients underwent a full clinical protocol including biochemical and hormonal ...
Angelini, Lorenzo +37 more
core +1 more source
An assessment of the quality of the I-DSD and the I-CAH registries - international registries for rare conditions affecting sex development [PDF]
, 2017 With the proliferation of rare disease registries, there is a need for registries to undergo an assessment of their quality against agreed standards to ensure their long-term sustainability and acceptability.This study was performed to evaluate the I-DSD
Ahmed, S.F. +5 more
core +1 more source
Clinical and Translational Science, 2021 Steroid 5α‐reductase type 2 deficiency (5α‐RD2) and androgen insensitivity syndrome (AIS) are difficult to distinguish clinically and biochemically, and adrenal‐derived androgens have not been investigated in these conditions using modern methods.
B. Han +9 more
semanticscholar +1 more source
Genetic variations in the androgen receptor are associated with steroid concentrations and anthropometrics but not with muscle mass in healthy young men [PDF]
, 2014 OBJECTIVE: The relationship between serum testosterone (T) levels, muscle mass and muscle force in eugonadal men is incompletely understood. As polymorphisms in the androgen receptor (AR) gene cause differences in androgen sensitivity, no straightforward
Bogaert, Veerle +7 more
core +7 more sources
The Pan African Medical Journal, 2016 Testicular feminization, or the androgen insensitivity syndrome, is a rare disease. Because of various abnormalities of the X chromosome, a male, genetically XY, has some physical characteristics of a woman or a full female phenotype. Indeed the androgen
Regragui Souhail +6 more
doaj +1 more source