To assess its differential diagnostic value, dehydroepiandrosterone sulfate (DHEA-S) was measured in a nonselected cohort of 84 patients with incidentally detected adrenal tumors (incidentaloma). Of the 38 histologically confirmed cases, 6 of 12 patients with primary or metastatic malignant tumor of the adrenals and 7 of 14 patients with benign cortical adenoma had low DHEA-S levels. Thus, the sensitivity, specificity, and predictive value of a low DHEA-S level to indicate a benign adrenal tumor were 0.35, 0.50, and 0.60, and the values to indicate a cortical adenoma were 0.50, 0.67, and 0.47, respectively. Of the 14 cases of histologically confirmed benign cortical adenoma, 10 had signs of hormonal activity, but DHEA-S was suppressed in only 7 cases. Thus, the sensitivity, specificity, and predictive value of a low DHEA-S level to indicate clinically significant hormonal activity of a benign cortical adenoma were 0.60, 0.75, and 0.86, respectively. For comparison, 5 of 5 males and 2 of 5 females with metastatic carcinomatosis, but without involvement of the adrenals, also had low DHEA-S levels. The data clearly show that in nonselected cases of incidentaloma a suppressed DHEA-S level is not a good predictor of hormonal activity and that DHEA-S measurement may be valuable only after having ascertained the cortical origin and benign feature of the tumor.

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. They had been substituted with prednisolone since the age of 4 and 9 years because of their primary adrenal insufficiency (PAI). Due to their late puberty caused by HHG at the age of 16 and 17 years their heights were − 3.1 and − 3.3 SD, but then they had a significant growth during their adulthood and reached the + 1.85 SD and + 3.78 SD respectively. During this period, they received glucocorticoid supplementation, but the treatment of their HHG was inadequate. At the age of 51 and 43 years insulin tolerance test (ITT) and gonadotropin releasing hormone (GnRH) test confirmed their PAI and HHG. Genetic test performed at this time revealed a novel, four nucleotides deletion (del.586-571c.GGGC or 572-575c.GGGC) of DAX1 gene. The two brothers with AHC and HHG caused by a novel DAX1 mutation, reached tall final heights, despite of the disadvantageous prednisolone treatment during their childhood. We assume that the long-term lack of the sexual hormone substitution was a significant reason of their above average height as well as their serious osteoporosis.

In the future somewhat more radical surgery and less remnant ablation is needed with unified follow-up protocol.

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. The patient underwent adrenalectomy with histopathological and immunohistochemical diagnosis of adenomatoid tumor of the adrenal gland. Based on literature data the epidemiology, symptoms, differential diagnosis, treatments, histopathology and prognosis of adenomatoid tumors of the adrenal gland are discussed.