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May 2018 in “Clinical chemistry” This case report described a 9-year-old girl initially suspected to have complete androgen insensitivity syndrome, whose laboratory tests later suggested an alternative diagnosis involving atypical steroid metabolism patterns and hormonal responses.
70 citations
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March 2016 in “Urologic Clinics of North America” This article reviews the coordination of the hypothalamic-pituitary-gonadal axis, male fertility, and therapies for hypogonadism, but reports no new clinical findings.
November 2013 in “John Wiley & Sons, Ltd eBooks” The document concludes that accurate diagnosis of male and female gonadal disorders is crucial for effective treatment and better patient outcomes.
January 2016 in “Springer eBooks” A 19-year-old male with delayed puberty was successfully treated for a condition that prevents normal hormone production.
September 2022 in “Annals of medicine and surgery” This case report discusses the diagnostic challenges and management options for three siblings with 46, XY DSD due to type 2 5-α reductase deficiency, highlighting the genetic basis and impact on their quality of life.