ACTA ENDOCRINOLOGICA (BUC)

Background. 21-hydroxylase deficiency (21 OHD) is the most common form of congenital adrenal hyperplasia (CAH) and it has been widely described in the literature. Adrenocortical incidentalomas are unfrequently the presenting manifestations of CAH, especially in nonclassical form of 21 OHD (NC 21 OHD). Myelolipoma has previously been reported more frequently than other adrenal adenomas associated with CAH. Case. We report a 40-year old male case of NC 21 OHD with hypoadrenocorticism after unilateral adrenalectomy of the right side because of a large solid incidentaloma (5×4×4cm3) at the age of 31. This patient began to suffer from obvious symptoms of adrenal insufficiency after 9 years from the surgery. He was reviewed and a very low-density adrenal mass (4.1×3.9cm) was found on computed tomography of the abdomen. After he was admitted to our hospital, this patient was confirmed with NC 21 OHD and presented low level cortisol, striking elevated ACTH, aldosterone insufficiency, increased 17-hydroxyprogesterone, progesterone, decreasing androgens and azoospermatism. Conclusion. Patients with 21 OHD could be on risk not only for adrenal hyperplasia, but also to develop adrenal adenomas, particularly if the disease was poorly controlled.

cancer has been continuously increasing, which is in line with the prevalent trend of obesity. Objective. This study aims to investigate the relationship between obesity and BRAFV600E mutation. Methods. The study collected clinical and demographic data of 140 patients with papillary thyroid carcinoma. Statistical analyses included independentsamples t-tests, chi-square tests, and univariate and multivariable logistic regression analyses, as well as receiver operating characteristic (ROC) curve analysis. Results. The mean BMI was significantly higher in the BRAFV600E-positive group than in the negative group (p<0.001). BMI was independently associated with BRAFV600E mutation in both univariate (p=0.007) and multivariate analyses (p=0.026). ROC analysis demonstrated that BMI had modest predictive value (p=0.003). Research has observed the existence of sex differences, with a higher proportion of males in the BRAFV600E-positive group (p=0.047). Among BRAFV600E-positive patients, males had higher BMI and were more frequently classified as overweight or obese (P < 0.001). However, sex was not identified as an independent predictor in multivariate analysis. No significant associations were found between BRAFV600E mutation and Hashimoto’s thyroiditis, diabetes, or fatty liver disease. Conclusion. This study demonstrates the association between higher BMI and BRAFV600E mutation in patients with PTC.

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