RESUMO
BACKGROUND: The somatostatin analog, pasireotide, is used for the treatment of acromegaly after the failure of surgery and/or first-line medical treatment. CASE PRESENTATION: A 48-year-old male reported that during a workup for obesity in his home country, hyperprolactinemia was diagnosed and a 3.5 × 3.5 cm pituitary macroadenoma was identified on pituitary MRI. He received cabergoline for 6 months; then he was lost to follow-up. He presented at our Endocrine clinic 2 years later for treatment of obesity (BMI 49.5 kg/m2). Biochemical workup revealed that in addition to hyperprolactinemia (7,237 [normal: 85-323 mIU/L), he had acromegaly, evident by elevated insulin-like growth factor 1 (IGF-1) level (450 [normal: 88-210 µg/L]), and a positive growth hormone suppression test, secondary hypothyroidism, and secondary hypogonadism. Pituitary MRI showed that the adenoma encased parts of the left and right internal carotid arteries and encroached on the optic chiasm. Surgical excision was therefore not feasible. He was treated with cabergoline and later, long-acting release (LAR) octreotide. Prolactin levels were reduced with cabergoline, but IGF-1 levels did not respond to octreotide, and it was discontinued. The patient abandoned radiotherapy after two sessions. He was started on LAR pasireotide 40 mg every 4 weeks and continued on cabergoline 0.5 mg per week. His biochemical response was dramatic, with a near normalization of IGF-1 levels in 3 months. After 6 months from starting pasireotide, we increased cabergoline dose from 0.5 mg/week to 3 mg/week. Three months later, IGF-1 level was normalized. The patient developed type 2 diabetes as a side effect of pasireotide; however, this was well-controlled with medications. CONCLUSIONS: The case suggests that pasireotide can provide marked biochemical improvement in acromegaly after the failure of both cabergoline monotherapy and cabergoline plus octreotide. This further confirms a potentially efficacious treatment regimen in treatment-resistant acromegaly with hyperprolactinemia.
RESUMO
Familial nonmedullary thyroid cancer (FNMTC) represents 5-10% of NMTC cases. Many controversies are associated with the FNMTC, namely, the minimum required number of affected family members to define the condition, aggressiveness, prognosis, and treatment and screening recommendations. Moreover, the genetic basis of the FNMTC has not yet been identified. We report a family diagnosed with FNMTC and present a comprehensive literature review of the condition. The index case was a 26-year-old male who was diagnosed with locally advanced papillary thyroid cancer (PTC). Then, his family members became worried and asked for a neck ultrasound. Four of his six siblings, in addition to his father, were diagnosed with PTC. In addition, two of his cousins were diagnosed. The patient underwent total thyroidectomy with bilateral neck dissection, and he received 2 doses of radioactive iodine (100 mCi each). Furthermore, one of his siblings required a second surgery with repeated radioactive iodine therapy. The index case genetic screening and whole-exome sequencing did not show any abnormalities. Future genetic and clinical research should focus on kindred with 3 or more affected individuals for better identification of the FNMTC susceptibility genes and to better guide management and screening recommendations.
RESUMO
BACKGROUND: Vitamin D deficiency is associated with indicators of pre-diabetes including, insulin resistance, ß-cell dysfunction and elevated plasma glucose with controversial findings from current trials. This study aims to investigate the long-term effect of vitamin D on glucose metabolism and insulin sensitivity in pre-diabetic and highly vitamin-deficient subjects. METHODS: One hundred thirty-two participants were randomized to 30,000 IU vitamin D weekly for 6 months. Participants underwent oral glucose tolerance test (OGTT) at 3-month intervals to determine the change in plasma glucose concentration at 2 h after 75 g OGTT (2hPCG). Secondary measurements included glycated hemoglobin, fasting plasma glucose and insulin, post-prandial insulin, indices of insulin sensitivity (HOMA-IR, Matsuda Index), ß-cell function (HOMA-ß, glucose and insulin area under the curve (AUC), disposition and insulinogenic indices), and lipid profile. RESULTS: A total of 57 (vitamin D) and 75 (placebo) subjects completed the study. Mean baseline serum 25(OH) D levels were 17.0 ng/ml and 14.9 ng/ml for placebo and vitamin D group, respectively. No significant differences were observed for 2hPC glucose or insulin sensitivity indices between groups. HOMA-ß significantly decreased in the vitamin D group, while area under curve for glucose and insulin showed a significant reduction in ß-cell function in both groups. Additionally, HOMA-ß was found to be significantly different between control and treatment group and significance persisted after adjusting for confounding factors. CONCLUSION: Vitamin D supplementation in a pre-diabetic and severely vitamin-deficient population had no effect on glucose tolerance or insulin sensitivity. The observed reduction in ß-cell function in both placebo and vitamin D groups could be attributed to factors other than supplementation. TRIAL REGISTRATION: NCT02098980, 28/03/2014 (www.clinicaltrials.gov).
RESUMO
Graves' disease (GD) may display uncommon manifestations. We report a patient with rare complications of GD and present a comprehensive literature review. A 35-year-old woman presented with a two-week history of dyspnea, palpitations, and edema. She had a raised jugular venous pressure, goiter, and exophthalmos. Laboratory tests showed pancytopenia, a raised alkaline phosphatase level, hyperbilirubinemia (mainly direct bilirubin), and hyperthyroidism [TSH: <0.01 mIU/L (reference values: 0.45-4.5), fT4: 54.69 pmol/L (reference values: 9.0-20.0), and fT3: >46.08 pmol/L (reference values: 2.6-5.7)]. Her thyroid uptake scan indicated GD. Echocardiography showed a high right ventricular systolic pressure: 60.16 mmHg. Lugol's iodine, propranolol, cholestyramine, and dexamethasone were initiated. Hematologic investigations uncovered no reason for the pancytopenia; therefore, carbimazole was started. Workup for hepatic impairment and pulmonary hypertension (PH) was negative. The patient became euthyroid after 3 months. Leukocyte and platelet counts and bilirubin levels normalized, and her hemoglobin and alkaline phosphatase levels and right ventricular systolic pressure (52.64 mmHg) improved. This is the first reported single case of GD with the following three rare manifestations: pancytopenia, cholestatic liver injury, and PH with right-sided heart failure. With antithyroid drugs treatment, pancytopenia should resolve with euthyroidism, but PH and liver injury may take several months to resolve.
