October 2023 in “IJEM case reports” This case report describes the diagnosis and management of a 15-year-old girl with complete androgen insensitivity syndrome, highlighting the importance of thorough physical exams for early detection and treatment planning.
April 2019 in “Journal of the Endocrine Society” This case report described a 39-year-old male with 47XXY/46XX mosaic Klinefelter syndrome who presented with common features of the condition and male pattern baldness seen in his family.
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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.
March 2021 in “AACE clinical case reports” This case study reports a rare combination of primary hyperparathyroidism with Klinefelter syndrome in a 44-year-old male, highlighting an unusual KS mosaicism with a mild phenotype.
May 2021 in “Journal of Advances in Internal Medicine” This case report describes a 13-year-old with DSD raised as female, exhibiting hoarseness and clitoral enlargement, with hormonal assessments not indicating common related deficiencies.