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
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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
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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.
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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
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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
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Novas perspectivas no diagnóstico do hipogonadismo pediátrico masculino: a importância do AMH como marcador de células de Sertoli [PDF]
, 2011 Sertoli cells are the most active cell population in the testis during infancy and childhood. In these periods of life, hypogonadism can only be evidenced without stimulation tests, if Sertoli cell function is assessed.
Grinspon, Romina, Rey, Rodolfo Alberto
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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
Mild androgen insensitivity syndrome presenting as male infertility with azoospermia
Sri Lanka Journal of Diabetes Endocrinology and Metabolism, 2018 Androgen insensitivity syndrome results from a mutation in androgen receptor gene. It has wide spectrum of phenotypic presentations. Mild androgen insensitivity syndrome (MAIS) is the milder form, present as undervirilized male syndrome.
Dharshini Karuppiah, Sanduni Kudabadu
doaj +1 more source
Sex assignment in conditions affecting sex development [PDF]
, 2017 The newborn infant with atypical genitalia presents a challenging clinical scenario and requires expert input. There have been appreciable advances in our knowledge of the underlying causes that may lead to a mere difference or a more serious disorder of
Ahmed, S. Faisal, Markosyan, Renata
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