Endocrine Abstracts

Background: Prolactinoma is the most common of all the pituitary tumours (40-60%) requiring medical attention. Most Premenopausal women with prolactinoma usually present with menstrual irregularities, galactorrhoea, and infertility (85-90%) rather than symptoms due to the tumor’s size. In contrast, men typically seek help for symptoms related to the tumor’s mass effect, such as visual impairment (80%), along with less specific symptoms of hypogonadism.

Case description: We report the case of a 33-year-old female with Turner’s mosaic variant, initially presenting with primary amenorrhea and later diagnosed with dyspraxia, dyslexia, and dyscalculia. A routine optician check-up revealed visual abnormalities, and when reviewed by the ophthalmology team she was confirmed to have dense bilateral hemianopia. An MRI pituitary showed a 4 x 2.4 x 3.6 cm partly cystic sellar mass with suprasellar extension compressing the optic chiasm. She was referred to the endocrinology team and diagnosed with a raised prolactin level (16789 mIU/l) without macroprolactin interference, along with biochemical evidence of hypopituitarism (low FT3 and FT4, suboptimal SST response). She was started on cabergoline along with levothyroxine, and hydrocortisone replacement. The treatment plan included close visual field monitoring, interval MRIs, and consideration of transsphenoidal surgery if medical treatment failed.

Conclusion: This young female with a macroprolactinoma presented unusually with bitemporal hemianopia. Due to her Turner syndrome and non-adherence to oestrogen therapy for the past decade, typical symptoms like amenorrhea and galactorrhoea were absent, leading to a delayed diagnosis and mass effect. The co-occurrence of Turner syndrome and pituitary macroadenoma is rare; only nine cases are reported in the literature, with six having a functioning pituitary adenoma and three a non-functioning one. Our case highlights this uncommon occurrence.