HLA Markers DQ8 and DR53 Are Associated With Lymphocytic Hypophysitis and May Aid in Differential Diagnosis.
نویسندگان
چکیده
IMPORTANCE Lymphocytic hypophysitis (LH) is a poorly understood autoimmune disorder of the pituitary gland. Symptoms include headache, pituitary dysfunction, visual disturbances, and neurological deficits. The diagnosis can be made based on clinical and biochemical findings, but for atypical presentations, no circulatory diagnostic biomarkers exist, and a pituitary biopsy is necessary for diagnosis. OBJECTIVES We used high-resolution human leukocyte antigen (HLA) screening assays to investigate a relationship between specific HLA markers and LH. DESIGN This was a retrospective analysis. SETTING The study was conducted at a tertiary referral center. SUBJECTS Fifteen patients with sporadic LH, 4 patients with melanoma who developed hypophysitis after administration of cytotoxic T lymphocyte antigen 4 (CTLA4) antibodies, and 1 patient with sarcoid-associated hypophysitis were evaluated. INTERVENTION Clinical data, including endocrine function, were assessed, and HLA typing was performed in all 20 patients with hypophysitis, 50 control patients with other sellar abnormalities, and 4 CTLA4 antibody-treated patients without hypophysitis. RESULTS Two major histocompatibility class II HLA markers, DQ8 and DR53, were found in 13 of 15 (87%) and 12 of 15 (80.0%) patients with sporadic LH, respectively. In contrast, none of the 4 patients who developed hypophysitis after administration of the CTLA4 antibodies exhibited the HLA-DQ8 marker and only 1 of 4 (25%) exhibited the HLA-DR53 marker. In a parallel group of 50 control subjects with sellar masses and 4 CTLA4 antibody-treated patients who did not develop evidence of pituitary failure, the candidate HLA subtypes were found in ∼20% for DQ8 and ∼48% for DR53, respectively. CONCLUSION AND RELEVANCE The HLA markers, DQ8 and DR53, were found to be commonly present in patients with LH. The odds ratio of a patient with LH expressing the HLA-DQ8 marker is 23.1-fold higher than that of a patient with another sellar mass. HLA-DQ8 testing may assist in diagnosis and avoid unnecessary biopsies in patients with atypical LH.
منابع مشابه
Spontaneous regression of one nonfunctioning pituitary macroadenoma associated with abnormal liver enzyme tests
Background: Nowadays, drug and observation are advised to patients with lymphocytic hypophysitis and in some cases with nonfunctioning pituitary macoadenoma, instead of surgery. Case presentation: In this article, we report a woman with nonfunctional pituitary macroadenoma and panhypopitutarism and negative criteria for lymphocytic hypophysitis associated with increased liver enzymes. After thr...
متن کاملDiagnostic challenges in celiac disease
1-The most important challenge in diagnosis of celiac disease is not- performing the diagnostic tests in suspected persons. Because of multi-organ damage and multiple manifestations of disease, diagnosis of celiac disease may be delayed. It seems general physicians should be awared about uncommon presentations of disease and indications of celiac tests 2-The second most important challenge is...
متن کاملDiagnostic Challenges in Celiac Disease
1. The most important challenge in diagnosis of celiac disease is not-performing the diagnostic tests in suspected persons. Because of multi-organ damage and multiple manifestations of disease, diagnosis of celiac disease may be delayed. It seems general physicians should be aware about uncommon presentations of disease and indications of celiac tests. 2. The second most important challenge is ...
متن کاملAn Unusual Case of Lymphocytic Hypophysitis in a Young Man Presenting with Elevated Serum Igf-1
Objective. To describe an unusual case of lymphocytic hypophysitis in a man, presenting with an elevated serum Insulin like growth factor-1(IGF-1) level. Case report. We report the case of a 27 year old male presenting with a 2 week history of severe headaches. Magnetic resonance imaging of the head showed an adenoma-like pituitary. The physical examination was normal, laboratory tests revealed...
متن کاملAn intrasellar germinoma with normal tumor marker concentrations mimicking primary lymphocytic hypophysitis Germinoma intrasselar com marcadores tumorais normais mimetizando hipofisite linfocítica primária
Intracranial germinomas (GE) are malignant neoplasms most commonly found in the suprasellar region, which may cause anterior and particularly posterior pituitary hormone deficits with central diabetes insipidus (DI). Differential diagnosis of pituitary stalk thickening includes granulomatous, inflammatory, infectious, and neoplastic lesions. Although careful analysis of clinical, laboratory, an...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
عنوان ژورنال:
- The Journal of clinical endocrinology and metabolism
دوره 100 11 شماره
صفحات -
تاریخ انتشار 2015