Cushing's syndrome due to ectopic adrenocorticotrophic hormone (ACTH) secretion is uncommon, accounting for 9 to 18% of cases; approximately 10% of ACTH producing tumours are caused by thymic carcinomas.1 We describe a young lady who presented with Cushing's syndrome secondary to a primary neuroendocrine tumour (NET) arising from the thymus. She had surgical resection of her primary tumour with remission of her Cushing's syndrome however subsequently went on to have locoregional recurrence followed by distant metastases to her bilateral ovaries. She underwent 6 surgeries including bilateral adrenalectomy and had 3 cycles of chemotherapy over the course of the 8 years since her diagnosis. Due to the rarity and highly aggressive nature of this disease, we highlight the need for a multidisciplinary team approach and use of multiple modalities in the management of our patient. Timely use of bilateral adrenalectomy particularly in young patients is important to prevent further complications and facilitate other treatment modalities.
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.