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A Likely Diagnosis of Familial Partial Androgen Insensitivity Syndrome in Three 46, XY Siblings With Ambiguous Genitalia: A Case Series [PDF]
Clinical Case ReportsFamilial partial androgen insensitivity syndrome is a rare cause of 46, XY disorder of sex development. It includes marked phenotypic variability, even among siblings.
Tayyeb Ali +10 more
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Asian Journal of AndrologyAndrogen insensitivity syndrome (AIS) is a condition that emerges from mutations in the androgen receptor (AR) gene, leading to functional defects and subsequent abnormal development of the urogenital sinus.
Xu Wen +6 more
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The challenges of androgen insensitivity syndrome
Archives of Medical Science, 2021 Androgen insensitivity syndrome (AIS) is an X-linked recessive genetic syndrome that occurs as result of an androgen receptor mutation; it affects the normal masculinization process in chromosomal male patients.
Bratu Ovidiu +8 more
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Journal of Medical Case Reports, 2021 Background Androgen insensitivity syndrome is a rare X-linked disorder of sex development, caused by mutations in the androgen receptor. In this case, a 13-year-old child, reared as female, presenting for primary amenorrhea, was diagnosed with complete ...
Stephanie Farah +2 more
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African Journal of Urology, 2023 Background Androgen insensitivity syndrome is a rare X-linked disorder of sex development that results from mutations in the androgen receptors leading to failure of normal masculinization of the external genitalia in genetically male individuals.
Mumini Wemimo Rasheed +7 more
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Complete androgen insensitivity syndrome [PDF]
Srpski Arhiv za Celokupno Lekarstvo, 2015 Introduction. Androgen insensitivity syndrome (AIS) belongs to disorders of sex development, resulting from complete or partial resistance to the biological actions of androgens in persons who are genetically males (XY) with normally developed ...
Tančić-Gajić Milina +6 more
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Laparoscopic gonedectomy in a case of complete androgen insensitivity syndrome
Journal of Human Reproductive Sciences, 2014 Complete Androgen insensitivity syndrome is a disorder of hormone resistance characterized by a female phenotype in an individual with an XY karyotype. The pathogenesis of CAIS involves a defective androgen receptor gene located on X-chromosome at Xq11 ...
G Bhaskararao +3 more
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Studia Medyczne, 2016 Androgen insensitivity syndrome (CAIS) – also called Morris syndrome, formerly known as testicular feminisation syndrome – is a congenital disorder of sex development caused by various mutations in the gene encoding the androgen receptor.
Przemysław Wolak
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Challenges in the Diagnosis of XY Differences of Sexual Development
Medicina, 2022 Background: We report the clinical case of female patient with 46,XY difference of sexual development (DSD) and discuss the challenges in the differential diagnosis between complete gonadal dysgenesis (also called Swyer syndrome) and complete androgen ...
Žana Bumbulienė +5 more
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An Early Case of Complete Androgen Insensitivity Syndrome
Journal of Investigative Medicine High Impact Case Reports, 2023 Inguinal hernias are rare in female infants, and when present, there is an increased incidence of androgen insensitivity in these infants. We present a case of bilateral inguinal hernias in a 26-day-old full-term phenotypic female.
Leen Matalka MD +3 more
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