ABSTRACT: Testicular adrenal rest tumors have been described in patients with congenital adrenal hyperplasia (CAH). The aim of this work was to (1) evaluate the prevalence of testicular adrenal rest tumors in patients with CAH; (2) study the hormonal profile; (3) define the sonographic features; (4) assess the seminal profile; and (5) initiate a longitudinal study on the possible role of corticotropin (ACTH) plasma levels in the induction and persistence of testicular adrenal rest tumors.
Eighteen patients affected by CAH, aged 21 to 41 years, were studied. These were all patients referred to our endocrinology unit for the first time to undergo a clinical evaluation. All of the patients were taking long-term cortisone acetate and fludrocortisone replacement therapy. The study included (1) a physical examination, (2) testis sonography, (3) a hormonal profile, (4) semen analysis.
Sonography showed testicular adrenal rest tumors in 11 patients (61.1%); of these, 9 cases (50.0%) were bilateral, and 2 (11.1%) were unilateral. The diameter ranged from 4 to 38 mm. In 9 patients, the lesions were hypoechoic, whereas in 2, they were hyperechoic. High plasma ACTH levels were detected in all of the patients with tumors despite long-term therapy. Semen analysis found 2 cases of azoospermia and 6 cases of oligoasthenoteratozoospermia; the 3 remaining patients were normospermic. The preliminary longitudinal study has shown 3 patients with a disappearance or reduction of the tumors after 6 months of modified treatment.
This study confirms the high prevalence of testicular adrenal rest tumors in patients with CAH and the major role played in its pathogenesis by high plasma ACTH levels.
Journal of ultrasound in medicine: official journal of the American Institute of Ultrasound in Medicine 03/2012; 31(3):383-8. · 1.25 Impact Factor
ABSTRACT: The aim of this study was to evaluate the prevalence of intratesticular isolated anechoic areas (ITIAAs) in a large population, the seminal profile, and follow-up of patients with ITIAAs.
A total of 2223 patients underwent an andrologic examination and scrotal sonography. In the patients with ITIAAs, a hormonal profile was obtained, and screening for neoplastic markers was performed. In selected cases, standard semen analysis was performed. Finally, a longitudinal study was initiated.
The prevalence of ITIAAs was 2.7% (59 of 2223 cases). In 48 of 59 cases (81.4%), a single ITIAA was found, whereas in the other 11 cases (18.6%), multiple ITIAAs were detected. Among the 59 patients with ITIAAs, we observed concomitant epididymal anechoic areas (EAAs) in 25 (42.4% of cases), specifically in 19 of 48 cases with a single ITIAA and 6 of 11 cases with multiple ITIAAs. Regarding age, 91.5% (54 of 59 cases) of the ITIAAs were found in patients older than 30 years; concomitant EAAs were present in about 50% of the cases. In patients younger than 30 years, no EAAs were detected. The seminal profile showed reduced sperm motility percentages in the patients with ITIAAs and concomitant EAAs. The longitudinal study did not show any significant variation of ITIAA patterns; all neoplastic markers remained negative.
An ITIAA is a pattern occasionally observed on sonography. The findings suggest that an ITIAA with a concomitant EAA could have a microtraumatic or inflammatory pathogenesis, whereas an ITIAA without a concomitant EAA in young patients could have a dysontogenetic origin.
Journal of ultrasound in medicine: official journal of the American Institute of Ultrasound in Medicine 11/2010; 29(11):1589-93. · 1.25 Impact Factor
ABSTRACT: Polycystic ovary syndrome (PCOS) and congenital adrenal hyperplasia (CAH) represent the most common causes of hyperandrogenism. Although the etiopathogeneses of these syndromes are different, they share many clinical and biochemical signs, such as hirsutism, acne, and chronic anovulation. Experimental data have shown that peripheral T-lymphocytes function as molecular sensors, being able to record molecular signals either at staminal and mature cell levels, or hormones at systemic levels.
Twenty PCOS women and 10 CAH with 21-hydroxylase deficiency, aged between 18-35 yr, were studied. T-cells purified from all patients and 20 healthy donors have been analyzed by 2-dimensional gel electrophoresis. Silver-stained proteomic map of each patient was compared with a control map obtained by pooling protein samples of the 20 healthy subjects.
Spots of interest were identified by peptide mass fingerprint. Computer analysis evidenced several peptidic spots significantly modulated in all patients examined. Some proteins were modulated in both syndromes, others only in PCOS or in CAH. These proteins are involved in many physiological processes as the functional state of immune system, the regulation of the cytoskeleton structure, the oxidative stress, the coagulation process, and the insulin resistance.
Identification of the physiological function of these proteins could help to understand ethiopathogenetic mechanisms of hyperandrogenic syndromes and its complications.
Journal of endocrinological investigation 10/2009; 33(3):156-64. · 1.57 Impact Factor