Primary (autoimmune) hypophysitis: a single centre experience.

BACKGROUND: Autoimmune hypophysitis (AH) is a rare autoimmune inflammatory disorder of pituitary gland. OBJECTIVE: To analyse clinical, hormonal, radiological features and management outcomes of AH. DESIGN: Retrospective analysis of patients with primary hypophysitis (where secondary causes of hypophysitis were ruled out) was carried out from 2006 to 2012. AH emerged as the most plausible aetiology and the diagnosis of exclusion. RESULTS: Twenty-four patients with AH (21 females and 3 males) were evaluated. They presented with symptoms of expanding sellar mass (83.3%), symptoms of anterior pituitary hormone deficiencies (58.3%), and diabetes insipidus (16.7%). The anterior pituitary hormonal axes affected were cortisol (75%), thyroid (58.33%) and gonadotropin (50%). All had sellar mass on magnetic resonance imaging, which was symmetrical (91.7%) and homogenously enhancing (91.7%). Stalk thickening, suprasellar extension, loss of posterior pituitary hyperintensity and parasellar T2 dark sign were seen in 87.5, 87.5, 71.5, and 50% respectively. In addition to hormone replacement, five (20.83%) patients underwent trans-sphenoidal surgery, fifteen (62.5%) were watchfully monitored, while four cases (16.67%) received steroid pulse therapy. On follow up imaging, the sellar mass regressed in all, while, stalk thickening was persistent in 13/19 (68.4%) non-operated patients at median follow up of 1 year. Pituitary hormone axis recovery was seen in 10 (41.67%) and was seen in cortisol 10/18 (55.5%) followed by gonadotropin 5/12 (41.67%) axis. CONCLUSION: Characteristic radiology helps in diagnosis of AH even without tissue diagnosis. Non-operative treatment is the preferred treatment modality. Steroid pulse therapy potentially improves pituitary axis recovery.

Clinical, biochemical and imaging characteristics of Cushing's macroadenomas and their long-term treatment outcome.

OBJECTIVE: Cushing's macroadenoma as a cause of Cushing's disease is less common than microadenoma. The data on nature and behaviour of Cushing's macroadenoma are limited to a few case series. We studied clinical, biochemical and imaging characteristics of macroadenoma and their long-term treatment outcomes. METHOD: Retrospective analysis of 40 patients with macroadenoma managed at our centre from 1997 to 2013. RESULTS: Of 40 patients, there were 15 (37·5%) males and 25 (62·5%) females. Mean age at presentation was 26·7 ± 9·3 years. Visual field defects and/or cranial nerve palsies were found in 15 cases at presentation. Mean maximum tumour dimension was 20·83 ± 10·74 mm, and parasellar extension was seen in 25 (62·5%) patients. Plasma ACTH/maximum tumour dimension and 8 am serum cortisol/maximum tumour dimension decreased with increasing tumour size. Sixteen patients (40%) had remission (4: immediate, 12: delayed) after first transsphenoidal surgery (TSS). Larger tumour size and parasellar extension were predictors of failure to achieve remission. Four patients relapsed; noticeably all of them had delayed remission. Among the persistent and relapsed cases, second TSS was successful in two of eight patients, whereas 11 of 16 patients achieved remission after a mean duration of 12·14 ± 8·41 months postradiotherapy. CONCLUSION: Younger age at presentation and larger tumour size compared with previous series were distinctive features of our series. Large tumour size and parasellar extension were negative predictors of surgical remission. Delayed remission was seen in significant proportion of patients, but one-third later relapsed. Radiotherapy was an effective second-line treatment modality.

Volume interpolated 3D-spoiled gradient echo sequence is better than dynamic contrast spin echo sequence for MRI detection of corticotropin secreting pituitary microadenomas.

BACKGROUND: Various techniques have been attempted to increase the yield of magnetic resonance imaging (MRI) for localization of pituitary microadenomas in corticotropin (ACTH)-dependent Cushing's syndrome (CS). OBJECTIVE: To compare the performance of dynamic contrast spin echo (DC-SE) and volume interpolated 3D-spoiled gradient echo (VI-SGE) MR sequences in the diagnostic evaluation of ACTH-dependent CS. DESIGN: Data was analysed retrospectively from a series of ACTH-dependent CS patients treated over 2-year period at a tertiary care referral centre (2009-2011). PATIENTS: Thirty-six patients (24 female and 12 male) were diagnosed to have ACTH-dependent CS during the study period. All patients underwent MRI by both sequences during a single examination. Cases with negative and equivocal pituitary MR imaging underwent corticotropin-releasing hormone (CRH) stimulated bilateral inferior petrosal sinus sampling (BIPSS) to confirm pituitary origin of ACTH excess state. Thirty patients were finally diagnosed to have Cushing's disease (CD) [based on histopathology proof of adenoma and/or remission (partial/complete) of hypercortisolism postsurgery]. Six patients were diagnosed to have histopathologically proven ectopic CS. RESULTS: Of 30 patients with CD, 24 patients had microadenomas and 6 patients had macroadenomas. DC-SE MRI sequence was able to identify microadenomas in 16 of 24 patients, whereas postcontrast VI-SGE sequence was able to identify microadenomas in 21 of 24 patients. All six patients of ectopic CS had negative pituitary MR imaging by both techniques (specificity: 100%). CONCLUSION: VI-SGE MR sequence was better for localization of pituitary microadenomas particularly when DC-SE MR sequence is negative or equivocal and should be used in addition to DC-SE MR sequence for the evaluation of ACTH-dependent CS.

Pheochromocytoma and tetralogy of Fallot: a rare but potentially dangerous combination.

OBJECTIVE: To describe a case of pheochromocytoma (PHEO) with tetralogy of Fallot (TOF) and discuss the difficulties encountered during the management of this patient, with a review of the literature. METHODS: We report the clinical course, imaging, and management issues of our patient and review relevant literature. RESULTS: A 14-year-old female who was known to have TOF presented with classical paroxysmal symptoms and worsening dyspnea. She was diagnosed as having epinephrine-secreting PHEO based on biochemical, radiologic, and functional imaging. She was treated with an α-1 blocker for control of paroxysms but developed severe cyanotic spells. She required addition of a calcium-channel blocker for control of the paroxysms and underwent successful cardiac repair. CONCLUSION: Treatment of the combination of cyanotic congenital heart disease (CCHD) and PHEO requires an individualized and multidisciplinary approach with judicious use of available medications. This is the first case of uncorrected TOF and epinephrine-secreting PHEO. Our case also reiterates the need for further studies to better understand the pathophysiologic link between PHEO/paraganglioma and CCHD.

Radiofrequency ablation, an effective modality of treatment in tumor-induced osteomalacia: a case series of three patients.

CONTEXT: Tumor-induced osteomalacia is curable if the tumors can be totally excised. However, when the tumors are present in locations that make surgery disproportionately risky, the need for less invasive strategies like radiofrequency ablation (RFA) is realized. PATIENTS AND METHODS: We describe three patients with suspected tumor-induced osteomalacia who were treated in our department between 2006 and 2013 with tumors in surgically difficult locations and were subjected to single or multiple sessions of RFA. The response was documented in terms of symptomatic improvement, phosphorus normalization, and follow-up (99m)Technitium-labelled hydrazinonicotinyl-Tyr3-octreotide ((99m)Tc HYNIC TOC) scan. RESULTS: Two of the three individuals, patient A (with a 1.5 × 1.2-cm lesion in the head of the right femur) and patient B (with a 1.3 × 1.2-cm lesion on the endosteal surface of the shaft of the left femur), achieved complete remission with single sessions of RFA. Three months after the procedure, (99m)Tc HYNIC TOC scans revealed the absence of uptake at the previous sites, corroborating with the clinical improvement and phosphorus normalization. Patient C had a large 5.6 × 6.5-cm complex lesion in the lower end of the left femur with irregular margins, loculations, and bone grafts placed in previous surgery. He failed to achieve remission after multiple sessions of RFA due to the complex nature of the lesion, although the tumor burden was reduced significantly as documented on serial (99m)Tc HYNIC TOC scans. CONCLUSIONS: Although surgery remains the treatment of choice, RFA could be an effective, less invasive, and safe modality of treatment in judiciously selected patients.

Ectopic ACTH-secreting syndrome: a single-center experience.

OBJECTIVE: Ectopic adrenocorticotropic hormone (ACTH)-secreting syndrome (EAS) is a rare cause of ACTH-dependent endogenous hypercortisolism. The objective of this study was to analyze clinical, biochemical, and imaging characteristics; management strategies; and outcomes of EAS patients. METHOD: We screened the records (1993-2012) of ACTH-dependent endogenous hypercortisolism cases managed at a tertiary care center. RESULTS: Of the 218 patients, 17 were diagnosed with EAS. The median 8:00 AM serum cortisol was 36 µg/dL (11.4-82.7 µg/dL), and the median basal plasma ACTH was 156 pg/mL (53.5-468 pg/mL). Notably, ACTH levels below 100 pg/mL were found in 4 patients. Suspicious microadenoma was found on magnetic resonance imaging (MRI) of the pituitary in 5 patients, and all of them underwent transsphenoidal surgery (TSS). Inferior petrosal sinus sampling (IPSS) was performed in 8 patients, and the results were suggestive of a peripheral source in all 8. Computed tomography (CT) localized the lesion in 15/17 patients. In 2 patients with negative CTs, gallium DOTATATE positron emission tomography (PET) scans localized the lesion. Despite difficulties localizing bronchial carcinoids, the cure rate was high (72%). In contrast, thymic carcinoids were easily localized but had poor outcomes. CONCLUSION: EAS cannot be ruled out on the basis of marginally elevated ACTH. In cases with an equivocal MRI pituitary finding, prior IPSS can help avoid unnecessary TSS. CT is a useful modality for localization of an ectopic source. Functional imaging may help in cases where anatomical imaging fails.