The sleeping giant: An atypical case of a giant Pituitary Adenoma presenting as Acromegaly with minimal symptoms of mass effect / Journal of the ASEAN Federation of Endocrine Societies

Introduction@#This is a case of patient with giant pituitary adenoma (GPA) presenting with acromegalic features, minimal symptoms of mass effect who underwent surgical resection via transcranial approach with minimal surgical morbidity.@*Case@#A 40-year-old female presented with typical acromegalic features over 14 years, occasional mild frontal headaches and blurred vision. She had elevated growth hormone (GH) and insulin-like growth factor-1 (IGF-1). Cranial MRI revealed a 6.4x7x5.5 cm lobulated pituitary mass with cystic degeneration, areas of necrosis with mass effect on several intracranial structures. Excision via craniotomy reduced mass size to 5.9x5.8x4.7 cm. Histopathology revealed a mixed GH- and prolactin-secreting pituitary adenoma. She was maintained on bromocriptine and underwent radiotherapy. Repeat IGF-1 levels remained elevated but symptoms did not progress@*Conclusion@#This is a case of a patient with GPA with minimal symptom of mass effect, with no hormonal improvement post-surgery and radiotherapy. Ideally, a multi-staged surgery can be done with optimization of medical management. In the absence of these medications locally and reluctance of patient for re-surgery, the team opted to monitor tumor size, hormone levels and maximize management of co-morbidities.

Deletion of late cornified envelope genes, LCE3C_LCE3B-del, is not associated with psoriatic arthritis in Tunisian patients.

A deletion of two genes from the late cornified envelope (LCE), LCE3B and LCE3C within epidermal differentiation complex on chromosome 1 was shown to be associated with both psoriasis and psoriatic arthritis (PsA) in several populations. To assess whether this deletion may contribute to the genetic predisposition to PsA in Tunisia, a total of 73 patients with PsA and 120 healthy matched controls were screened for the deletion, LCE3C_LCE3B-del, and its tag SNP, rs4112788. We also evaluated a possible relationship between PSORS1 and LCE3C_LCE3B-del through genotyping two proxy markers to HLA-C (rs12191877 and rs2073048). Our results did not provide evidence for association between the LCE3C_LCE3B-del nor the rs4112788 and the PsA. Similarly, no significant epistatic effect was observed. Our data suggest that The LCE deletion, previously identified in patients with psoriasis, is not of a major importance in the development of PsA in Tunisian patients supporting the current perception that different genetic risk factors contribute to skin and joint disease. However, these results need to be confirmed by additional large-scale studies of Tunisian PsA patients and controls.