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.
9 citations
,
November 2014 in “Indian Journal of Endocrinology and Metabolism” This case report describes a young female with a rare combination of 46,XX gonadal dysgenesis and MRKH syndrome, highlighting associated infertility challenges.
1 citations
,
September 2017 in “Zhonghua neifenmi daixie zazhi” This article discusses the importance of routine karyotyping in patients with congenital adrenal hyperplasia, as it may reveal the presence of Turner syndrome and recommends early diagnosis and treatment; it reports no new clinical results.
October 2025 in “Journal of the Endocrine Society” This report highlights that Klinefelter syndrome is often underdiagnosed due to phenotypic variability and emphasizes the importance of thorough physical examinations to improve diagnostic timing.
May 2021 in “Journal of the Endocrine Society” This case report describes the rare association of an ovarian Leydig cell tumor and primary hyperparathyroidism in a postmenopausal woman, highlighting the importance of considering rare causes in patients with virilizing symptoms.