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This case report identifies a 32-year-old woman with undiagnosed PHPT-1a who exhibited complete pseudo-anodontia and persistent patchy alopecia areata, suggesting these may be new nonclassical features of a GNAS pathogenic variant.

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.

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.

In this case report, researchers described how autoimmune thyroid disease can obscure primary hyperparathyroidism diagnosis, emphasizing the necessity of combining imaging, cytology, biochemical assessment, and parathyroid scintigraphy for accurate diagnosis.