Mustafa O.,Diskapi Yb Education And Research Hospital |
Mehmet E.,Ege University
Gynecological Endocrinology | Year: 2010
46, XX male (de la Chapelle syndrome) is a rare syndrome with a frequency of 1 in 20,000-25,000 males. 46, XX males exist in different clinical categories with ambiguous genitalia or partially to fully mature male genitalia, in combination with complete or incomplete masculinisation. We herein report a case of SRY-negative XX male with complete masculinisation but with infertility, and co-existing with autoimmune thyroiditis. The patient had fully mature male genitalia with descended but small testes and no signs of undervirilisation. Peripheral blood culture for chromosome studies revealed 46 chromosomes with XX constitution. Repeat polymerase chain reaction analysis, using Y-specific sequence tagged sites analysing about 40 metaphases of genomic DNA, confirmed the absence of the Y chromosome, including any detectable SRY gene. We herein report a case of a man 46, XX male SRY with normal male phenotype and infertility. This case is the first reported case, co-existing with chronic autoimmune thyroiditis. © 2010 Informa UK Ltd.
Ozbek M.,Diskapi Yb Education And Research Hospital |
Erdogan M.,Ege University |
Dogan M.,Diskapi Yb Education And Research Hospital |
Akbal E.,Diskapi Yb Education And Research Hospital |
And 2 more authors.
Journal of Endocrinological Investigation | Year: 2011
Background: Heart-type fatty acid-binding protein (H-FABP) is a major cytoplasmic low molecular weight protein and released into the circulation when the myocardium is injured. Previous studies have demonstrated that H-FABP is closely associated with acute coronary syndrome, hypertrophic and dilated cardiomyopathy, heart failure, stroke, obstructive sleep apnea syndrome, and pulmonary embolism. The aim of this study was to investigate serum H-FABP value in patients with acromegaly. Methods and results: We measured serum H-FABP levels in 30 consecutive patients with acromegaly, and 55 age-matched control subjects by using a sandwich enzyme-linked immunosorbent assay. Serum H-FABP levels were significantly higher in patients with acromegaly than in control subjects (17.40±10.70, and 8.30±7.20, respectively) (p<0.001). A significant positive correlation was found by Spearman's correlation test between serum H-FABP levels and left ventricular end-systolic diameter (r=0.483, p=0.004). Conclusion: Patients with acromegaly have increased levels of H-FABP. Serum H-FABP levels might be a marker of myocardial performance in patients with acromegaly. ©2011, Editrice Kurtis.