45,X/46,XY mosaicism is a rare disorder with a wide heterogeneity in its manifestations. An 18-year-old girl was referred to the endocrine clinic for investigation of her primary amenorrhea. Clinical examination was unremarkable. Hormonal profile was consistent with primary ovarian insufficiency and human chorionic gonadotropin (hCG) stimulation did not show evidence of active testicular tissue. Karyotyping studies by G-banding revealed a 45,X/46,XY karyotype. She was diagnosed with mosaic Turner syndrome with Y chromosomal material and investigation was performed to identify the presence of male gonads due to the risk of gonadal malignancy. Magnetic resonance imaging (MRI) of the pelvis did not show evidence of gonads. Laparoscopic exploration was proposed but the patient and parents refused opting for conservative management. This case highlights the challenges in the management of this rare condition.
Gonadal Dysgenesis, Mixed ; Turner Syndrome ; Y Chromosome

Thyrotoxicosis is a well-recognized cause of myopathy, but rarely presents as acute flaccid quadriparesis. We report a 25-year-old female with underlying uncontrolled Graves’ disease who presented with thyroid storm and acute flaccid quadriparesis due to thyrotoxic myopathy. She showed marked clinical improvement with subsequent normalization of her thyroid parameters. Besides highlighting this rare association, this report underscores the importance of considering thyrotoxic myopathy in the evaluation of patients with acute flaccid quadriparesis.
Thyroid Crisis ; Quadriplegia