54 citations
,
November 2001 in “Urology” This review discusses the association between androgen receptor CAG repeat polymorphism and several health conditions, including Kennedy’s disease and urologic disorders, without reporting new clinical results.
3 citations
,
January 2008 in “Endocrine journal” In this case report, the authors describe a partial androgen insensitivity syndrome patient with a novel AR gene mutation, highlighting challenges in gender assignment decisions for infants with partial AIS.
39 citations
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April 2018 in “Hormones” This review suggests that most mutations in the SRD5A2 gene show no clear genotype-phenotype correlation in 5-α-Reductase deficiency, although mutation location affects severity.
October 2022 in “Endocrine journal” In this study of male patients with 46,XY 5α-reductase type 2 deficiency, DHT therapy was effective in achieving penile enlargement during infancy, while testosterone replacement therapy proved more beneficial during puberty, possibly due to increased conversion to DHT.
36 citations
,
July 2014 in “Neuromuscular Disorders” This study investigated a patient with spinal and bulbar muscular atrophy who had 68 CAG repeats, revealing early onset and unique symptoms not previously documented in the condition.