2012
DOI: 10.1111/j.1365-2265.2012.04402.x
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Healthy birth after testicular extraction of sperm and ICSI from an azoospermic man with mild androgen insensitivity syndrome caused by an androgen receptor partial loss‐of‐function mutation

Abstract: A healthy child can be obtained by testicular extraction and ICSI despite azoospermia in MAIS. The parents must be informed of the X-linked transmission of the mutation to their descendants. The relationship between AR signalling, testicular AMH expression and spermatogenesis in this patient is discussed.

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Cited by 24 publications
(10 citation statements)
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“…Any disruption of this axis produces both systemic and testicular effects that perturb sperm production. In fact, it is known that human semen quality is associated with the level of testicular androgen receptor and androgen sensitivity [56,57]. Under physiological conditions, testosterone produced by Leydig cells is bound and maintained at high level in the lumen of seminiferous tubules by Sertoli cell-specific androgen binding protein (ABP).…”
Section: Impact Of Edcs On Sperm Production In the Testis Through mentioning
confidence: 99%
“…Any disruption of this axis produces both systemic and testicular effects that perturb sperm production. In fact, it is known that human semen quality is associated with the level of testicular androgen receptor and androgen sensitivity [56,57]. Under physiological conditions, testosterone produced by Leydig cells is bound and maintained at high level in the lumen of seminiferous tubules by Sertoli cell-specific androgen binding protein (ABP).…”
Section: Impact Of Edcs On Sperm Production In the Testis Through mentioning
confidence: 99%
“…The testes may be descended or not and the development of the Wolffian ducts may be normal or defective (3,19,21). The spermatogenesis has been reported to range from azoospermia to complete spermatogenesis (20,22,23). In XX males with SRY translocation, genital development results in male phenotype with small testes and azoospermia (24).…”
mentioning
confidence: 99%
“…Serum hormone levels in both severe and mild forms of PAIS are similar to CAIS [87]. Histologically, most seminiferous tubules show no spermatogenesis, but a small minority may exhibit complete spermatogenesis [88]. The fertility status of affected individuals depends on AR mutations that affect its function and emergent phenotype resulting from a dynamic interaction between the genome and proteome.…”
Section: Defects In Androgen Actionmentioning
confidence: 93%