A Novel Mutation in the type Iα Regulatory Subunit of Protein Kinase A (PRKAR1A) in a Cushing's Syndrome Patient with Primary Pigmented Nodular Adrenocortical Disease.

A 40-year-old man presented with Cushing's syndrome due to bilateral adrenal hyperplasia with multiple nodules. Computed tomography scan results were atypical demonstrating an enlargement of the bilateral adrenal glands harboring multiple small nodules, but the lesion was clinically diagnosed to be primary pigmented nodular adrenocortical disease (PPNAD) based on both endocrinological test results and his family history. We performed bilateral adrenalectomy and confirmed the diagnosis histologically. An analysis of the patient and his mother's genomic DNA identified a novel mutation in the type Iα regulatory subunit of protein kinase A (PRKAR1A) gene; p.E17X (c.49G>T). This confirmed the diagnosis of PPNAD which is associated with Carney Complex.

Resolution of gelatinous bone marrow transformation following hormone replacement therapy in a patient with primary insufficiency of the adrenal and thyroid glands.

A 59-year-old man with recurrent oral cancer presented with severe pancytopenia, hyponatremia and hypoglycemia. Endocrine testing showed a partial primary adrenal insufficiency and primary hypothyroidism. The bone marrow biopsy showed a gelatinous transformation with hypocellularity and fat atrophy. His pancytopenia, hyponatremia and hypoglycemia resolved following treatment with corticosteroids and thyroid hormone replacement therapy. The follow-up bone marrow biopsy demonstrated a resolution of the gelatinous transformation. This case is a rare example of a patient with a primary insufficiency of the adrenal and thyroid glands that is associated with gelatinous bone marrow transformation (GMT). The GMT was resolved through the administration of corticosteroids and thyroid hormone replacement therapy.

Serum adiponectin levels predict the risk of coronary heart disease in Japanese patients with type 2 diabetes.

AIMS/INTRODUCTION: An inverse association between adiponectin and coronary heart disease (CHD) has been found in Caucasians, but it is uncertain whether this association can be extrapolated to the East Asian population. The present study aimed to investigate whether serum adiponectin levels can predict CHD in Japanese patients with type 2 diabetes as observed in Caucasians. MATERIALS AND METHODS: This longitudinal study included 504 patients with type 2 diabetes (342 men and 162 women) who were admitted to Sumitomo Hospital between July 2005 and December 2006. We used Cox proportional hazard analysis to estimate the hazard ratio (HR) of CHD associated with serum adiponectin levels at baseline. RESULTS: During a median follow up of 5.7 years (2177 person-years), 40 participants had new CHD and 10 had recurrent CHD. After multivariate adjustment, the highest compared with the lowest quartile of serum adiponectin levels had a significantly reduced risk of CHD (hazard ratio [HR] 0.35; 95% confidence interval [CI] 0.13-0.94; P = 0.017). The multivariate adjusted HR for the risk of CHD according to a doubling of adiponectin at baseline was 0.61 (95% CI 0.39-0.97; P = 0.037). CONCLUSIONS: High serum adiponectin levels are significantly associated with a lower risk of CHD in Japanese patients with type 2 diabetes. This association is independent of other well-known CHD risk factors.