Endocrine Abstracts

To date only seven cases of naturally occuring inactivating mutations of the aromatase gene in men have been documented. Osteoporosis is one of the typical signs of the aromatase deficiency in male patients. We report results of estrogen therapy in patient with formerly described frameshift mutation of the CYP19 gene, ins 1058 T. Bone mineral density (BMD) was assessed during three phases of estrogen therapy. Patient was substituted by calcium and vitamin D throughout t...

Resistance to thyroid hormones (RTH), is with the exceptions caused by mutations in the gene coding β1-subunit of the thyroid receptor (TRβ1) located on chromosome 3. More than 700 individuals with RTH belonging to about 250 families have been identified up to date. The presence of goiter, tachycardia and hyperactivity together with abnormal findings on routine thyroid testing usually lead to further investigation and, ultimately, the diagnosis ...