Complete Androgen Insensitivity Syndrome in a Young Girl with Primary Amenorrhea and Suspected Delayed Puberty: A Case-Based Review of Clinical Management, Surgical Follow-Up, and Oncological Risk. [PDF]
DiseasesBackground: Complete androgen insensitivity syndrome (CAIS) is a rare disorder of sex development characterized by 46,XY karyotype and testes, yet presenting with a complete female phenotype, which is related to mutations in the androgen receptor (AR ...
Fraccascia B +9 more
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Pure 46, XY gonadal dysgenesis and 46, XY complete androgen insensitivity syndrome: A case report. [PDF]
Medicine (Baltimore)Background: Disorders of sex development (DSD) are congenital conditions characterized by atypical development of chromosomal, gonadal, and phenotypic sex. 46, XY DSD can result from disorders of testicular development or androgen synthesis.
Yu T, Liu L.
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A novel androgen resistance gene mutation (p.G590W) in complete androgen insensitivity syndrome: Emphasizing the need for early gonadectomy and integrated patient care [PDF]
Journal of International Medical ResearchComplete androgen insensitivity syndrome is a rare 46,XY disorder of sex development caused by mutations in the androgen receptor gene, resulting in androgen resistance despite a normal male karyotype.
Hai-Yan Sun +3 more
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Androgen insensitivity syndrome: a review
Archives of Endocrinology and Metabolism, 2018 Androgenic insensitivity syndrome is the most common cause of disorders of sexual differentiation in 46,XY individuals. It results from alterations in the androgen receptor gene, leading to a frame of hormonal resistance, which may present clinically ...
Rafael Loch Batista +8 more
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Complete androgen insensitivity syndrome in a 15-year-old female with primary amenorrhea and undescended testes: a rare case report [PDF]
Radiology Case ReportsMorris syndrome, also known as Complete Androgen Insensitivity Syndrome (CAIS), is a rare genetic disorder of sex development characterized by a 46, XY karyotype with female external genitalia due to androgen receptor mutations. We present a case of a 15-
Fariha Zerin, MBBS +3 more
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Partial Androgen Insensitivity Syndrome and Congenital Adrenal Hyperplasia—A Case Report of the Coexistence of Two Rare Diseases in One Patient [PDF]
ReportsBackground and Clinical Significance: In a single phenotypically female patient, we describe the rare co-occurrence of partial androgen insensitivity syndrome (PAIS) and congenital adrenal hyperplasia (CAH). Partial androgen insensitivity syndrome (PAIS)
Mariola Krzyścin +7 more
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Different Clinical Presentations and Management in Complete Androgen Insensitivity Syndrome (CAIS) [PDF]
International Journal of Environmental Research and Public Health, 2019 Complete androgen insensitivity syndrome (CAIS) is an X-linked recessive genetic disorder resulting from maternally inherited or de novo mutations involving the androgen receptor gene, situated in the Xq11-q12 region.
Lucia Lanciotti +5 more
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Novel compound variants of the AR and MAP3K1 genes are related to the clinical heterogeneity of androgen insensitivity syndrome [PDF]
Bioscience Reports, 2020 Androgen insensitivity syndrome (AIS; OMIM 300068) is the most frequent cause of 46, XY disorders of sex development (DSD). However, the correlation between genotype and phenotype has not been determined.
Yiping Cheng +8 more
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A Baby With Complete Androgen Insensitivity Syndrome and the Fortuitous Discovery of 45,X/46,XY Mosaicism. [PDF]
Cureus, 2023 Wong WY, Wong LM, Tam YH, Luk HM.
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The contribution of the androgen receptor (AR) in human spatial learning and memory: A study in women with complete androgen insensitivity syndrome (CAIS) [PDF]
, 2015 Sven C. Mueller +4 more
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