Novel frameshift mutation of the NR0B1(DAX1) in two tall adult brothers.

NR0B1 (nuclear receptor subfamily 0, group B, member 1) is a transcription factor encoded by DAX1 (dosage-sensitive sex reversal, adrenal hypoplasia critical region, on chromosome X, gene 1) responsible for the development and maintenance of the steroidogenic tissues. In humans the DAX1 mutations cause congenital adrenal hypoplasia (AHC) and hypogonadotropic hypogonadism (HHG) in boys. Here we report two brothers who were assessed by endocrinologist at the age of 51 and 43 because of their serious osteoporosis.

[Outcome of differentiated thyroid cancer after initial treatment].

Unlabelled: Incidence of differentiated thyroid cancer has increased in the last two decades. This type of cancer is now being diagnosed at an earlier stage. Treatment strategy has been modified.

[Adenomatoid tumor of the adrenal gland. Case report and review of the literature].

Adenomatoid tumors of the adrenal gland are rather rare, asymptomatic neoplasias with benign behavior and usually are diagnosed incidentally. The authors report a case of an adenomatoid tumor of the right adrenal gland in a 32-year-old man who sought evaluation because of fever and renal pain. During investigation a tumor, localized in right adrenal gland, was identified by ultrasonography and CT.