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. 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.

[Outcome of differentiated thyroid cancer after initial treatment]. / Differenciált pajzsmirigyrákos betegek sorsa az elsodleges kezelés után.

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. AIMS: The goals of this study were to analyze the outcome of differentiated thyroid cancer after initial treatment (surgery and radioiodine ablation) in patients evaluated and followed up in a single centre between l999 and 2009, to compare these results with others as well as to monitor the adoption of international recommendation. 107 patients having T1-T2 differentiated thyroid cancer were studied. Mean follow-up time was 63 months. RESULTS: After surgery patients were prepared using thyroid hormone withdrawal or recombinant human thyrotropin, then 1.1-3.7 GBq 131-iodine was administered. First year evaluation consisted of ultrasound as well as serum thyrotropin and thyroglobulin (plus thyroglobulin antibody) determinations. Ablation success rate was 83% and the five year survival was 100%. There was not any cancer specific death. CONCLUSION: In the future somewhat more radical surgery and less remnant ablation is needed with unified follow-up protocol.

[Adenomatoid tumor of the adrenal gland. Case report and review of the literature]. / A mellékvese adenomatoid tumora, avagy irodalmi barangolás egy igen ritka mesothelialis daganat nyomán.

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.