Endocrine Abstracts (2013) 32 P234 | DOI: 10.1530/endoabs.32.P234

Combined choroidal neovascularization and hypopituitarism in a patient with homozygous mutation in methylenetetrahydrofolate reductase gene

Aydogan Aydogdu1, Cem Haymana1, Kamil Baskoy1, Ali Hakan Durukan2, Gokhan Ozgur3 & Omer Azal1

1Department of Endocrinology and Metabolism, Gulhane School of Medicine, Ankara, Turkey; 2Department of Ophthalmology, Gulhane School of Medicine, Ankara, Turkey; 3Department of Hematology, Gulhane School of Medicine, Ankara, Turkey.

Introduction: Hypopituitarism is defined as either partial or complete deficiency of anterior or posterior pituitary hormone secretion or both. Hypopituitarism itself may increase the risk of thromboembolism/hypercoagulopathy, and underlying mechanisms of hemostatic dysfunctions in hypopituitarism are mostly unknown. Reduced enzymatic activity due to methylenetetrahydrofolate reductase (MTHFR) gene mutations are associated with hyperhomocysteinemia and have been linked to both arterial and venous thrombosis. Choroidal neovascularization (CNV) in the macular area is one of the major causes of severe visual. Relationship between MTHFR and hypopituitarism in patients with Sheehan syndrome was also shown previously. Except for the Sheehan syndrome, any association of MTHFR mutation with hypopituitarism could not be identified to date.

Case report: We report a case of choroidal neovascularization (CNV) secondary to MTHFR gene mutation in a 20-year-old male patient with hypopituitarism. There was no history of pituitary surgery, radiotherapy, cranial trauma, pituitary apoplexy, subarachnoid hemorrhage or ischemic stroke. Finally, no primary cause of hypopituitarism could be found except a MTHFR gene mutation. Treatment with three consecutive injections of intravitreal ranibizumab (anti-vascular endothelial growth factor) resulted significant improvement of the patient’s vision and the appearance of the macula. With hormone replacement therapy of hypopituitarism also acetyl salicylic acid 100 mg/day was started. The patient was clinically stable both for CNV and other thromboembolic disorders over a 1-year follow-up period.

Conclusion: CNV and hypopituitarism associated with a MTHFR gene mutation is highly unusual. Although there are no recommendations in this regard, the observations in the present patient indicate that antiangiogenic therapy can be useful and safe for the treatment of CNV in such a condition. Along with corticosteroids, levotroxin and testosterone replacement for the hypopituitarism, ASA treatment to prevent recurrent embolic events could be a reasonable approach when thrombotic ophthalmic complications occur in subjects with a MTHFR gene mutation.

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