scholarly journals Testicular Adrenal Rest Tumors in Patients with Congenital Adrenal Hyperplasia

2012 ◽  
Vol 4 (2) ◽  
pp. 94-100 ◽  
Author(s):  
Esra Deniz Papatya Çakır ◽  
Fatma Şentürk Mutlu ◽  
Erdal Eren ◽  
Aliye Özlem Paşa ◽  
Halil Sağlam ◽  
...  
Keyword(s):  
Congenital Adrenal Hyperplasia ◽  
Adrenal Hyperplasia ◽  
Testicular Adrenal Rest Tumors ◽  
Adrenal Rest ◽  
Testicular Adrenal Rest

scholarly journals Molecular Characterization of Testicular Adrenal Rest Tumors in Congenital Adrenal Hyperplasia: Lesions With Both Adrenocortical and Leydig Cell Features

2015 ◽  
Vol 100 (3) ◽  
pp. E524-E530 ◽  
Author(s):  
Evelien E. J. W. Smeets ◽  
Paul N. Span ◽  
Antonius E. van Herwaarden ◽  
Ron A. Wevers ◽  
Ad R. M. M. Hermus ◽  
...  
Keyword(s):  
Congenital Adrenal Hyperplasia ◽  
Adrenal Cortex ◽  
Leydig Cell ◽  
Adrenal Hyperplasia ◽  
Cell Markers ◽  
Expression Levels ◽  
Adrenal Tissue ◽  
Testicular Adrenal Rest Tumors ◽  
Adrenal Rest ◽  
Testicular Adrenal Rest

Context: Testicular adrenal rest tumors (TART) are one of the major long term complications in patients with congenital adrenal hyperplasia. Although several adrenal-like properties have been assigned to these benign lesions, the etiology has not been confirmed yet. Objective: The aim of this study was to describe TART in more detail by analyzing several (steroidogenic) characteristics that may be classified as adrenal cortex or Leydig cell specific. Methods: Gene expression analysis by qPCR was performed for 14 genes in TART tissue (n = 12) and compared with the expression in healthy control fibroblasts (nonsteroidogenic control). In addition, a comparison was made with the expression levels in testis tissue (n = 9) and adrenal tissue (n = 13). Results: Nearly all genes were highly expressed in TART tissue, including all genes that encode the key steroidogenic enzymes. TART expression levels are in the majority almost identical to those found in adrenal tissue. The expression of adrenal cortex specific genes (CYP11B1, CYP11B2, and MC2R) in both TART and adrenal tissue is approximately 1000–10 000 times higher compared to that in testes samples. In addition, the Leydig cell markers INSL3 and HSD17B3 were not only found in testes, but also in TART, both at significantly higher levels than in the adrenal (p < 0.01). Conclusion: Our study shows for the first time that TART have multiple steroidogenic properties, which include not only the expression of adrenal cortex but also of Leydig cell markers. Therefore, the origin of these tumors might be a more totipotent embryonic cell type.

Testicular adrenal rest tumors in patients with congenital adrenal hyperplasia: 6 years of follow-up

2019 ◽  
Vol 32 (5) ◽  
pp. 519-526 ◽  
Author(s):  
Gabriela Werneck ◽  
Enda M.R. Rodrigues ◽  
Rafael M. Mantovani ◽  
Jovita S.S. Lane ◽  
Ivani N. Silva
Keyword(s):  
Congenital Adrenal Hyperplasia ◽  
Tumor Progression ◽  
Repeated Measures ◽  
Laboratory Data ◽  
Hormonal Control ◽  
Adrenal Hyperplasia ◽  
Testicular Adrenal Rest Tumors ◽  
Adrenal Rest ◽  
Testicular Adrenal Rest

AbstractBackgroundTesticular adrenal rest tumors (TARTs) leading to primary gonadal failure are the main etiology of infertility in congenital adrenal hyperplasia (CAH). We aimed at identifying the evolution of TART and related findings in young CAH patients.MethodsTwelve male patients (3–23 years old) with 21-hydroxilase deficiency (11 with classic salt-wasting form) were included. Testicular ultrasonography (US) was performed in two moments, by a single blinded specialist in pediatric diagnostic imaging. Tumor progression was classified according to the Response Evaluation Criteria in Solid Tumors (RECIST). The clinical and laboratory data were retrieved from medical records. Serum 17-OH-progesterone (17OHP) and androstenedione concentrations were evaluated during the whole period of follow-up, from the CAH diagnosis. A logistic regression model with repeated measures was developed for the analysis.ResultsThe prevalence of TART was 41.6% (n = 5) in the initial US evaluation and 66.6% (n = 8) after 6 years of follow-up. Tumor progression was detected in 4 of the 5 patients, and 1 presented with a stable tumor. Three patients presented with new tumors in the second evaluation. Most of the patients (n = 11) were pubertal, including a 7-year-old child with TART who presented with central precocious puberty. At regression analysis, it was observed that an inadequate hormonal control led to a 16 times greater chance of a patient to present with TART (OR = 16.08; confidence interval [CI] 95% = 2.38–108.81; p = 0.004).ConclusionsWe found a high prevalence of progressive TART in young pubertal subjects. US testicular screening should help in improving therapeutic optimization in CAH patients to reduce future impairment in fertility.

Testicular adrenal rest tumors in patients with congenital adrenal hyperplasia can cause severe testicular damage

2008 ◽  
Vol 89 (3) ◽  
pp. 597-601 ◽  
Author(s):  
Hedi L. Claahsen-van der Grinten ◽  
Barto J. Otten ◽  
Ad R.M.M. Hermus ◽  
Fred C.G.J. Sweep ◽  
Christina A. Hulsbergen-van de Kaa
Keyword(s):  
Congenital Adrenal Hyperplasia ◽  
Testicular Damage ◽  
Adrenal Hyperplasia ◽  
Testicular Adrenal Rest Tumors ◽  
Adrenal Rest ◽  
Testicular Adrenal Rest

scholarly journals Absence of Testicular Adrenal Rest Tumors in Newborns, Infants, and Toddlers with Classical Congenital Adrenal Hyperplasia

2019 ◽  
Vol 92 (3) ◽  
pp. 157-161
Author(s):  
Mimi S. Kim ◽  
Christina M. Koppin ◽  
Pankhuri Mohan ◽  
Fariba Goodarzian ◽  
Heather M. Ross ◽  
...  
Keyword(s):  
Congenital Adrenal Hyperplasia ◽  
Infants And Toddlers ◽  
Adrenal Hyperplasia ◽  
Testicular Adrenal Rest Tumors ◽  
Adrenal Rest ◽  
Testicular Adrenal Rest

Testicular Adrenal Rest Tumors in Patients With Congenital Adrenal Hyperplasia

2012 ◽  
Vol 31 (3) ◽  
pp. 383-388 ◽  
Author(s):  
Michele Delfino ◽  
Jlenia Elia ◽  
Norina Imbrogno ◽  
Nicola Argese ◽  
Rossella Mazzilli ◽  
...  
Keyword(s):  
Congenital Adrenal Hyperplasia ◽  
Adrenal Hyperplasia ◽  
Testicular Adrenal Rest Tumors ◽  
Adrenal Rest ◽  
Testicular Adrenal Rest

scholarly journals Fertility, sexuality and testicular adrenal rest tumors in adult males with congenital adrenal hyperplasia

2012 ◽  
Vol 166 (3) ◽  
pp. 441-449 ◽  
Author(s):  
Henrik Falhammar ◽  
Helena Filipsson Nyström ◽  
Urban Ekström ◽  
Seth Granberg ◽  
Anna Wedell ◽  
...  
Keyword(s):  
Congenital Adrenal Hyperplasia ◽  
Fat Mass ◽  
Sperm Concentration ◽  
Inhibin B ◽  
Adrenal Hyperplasia ◽  
Hydroxylase Deficiency ◽  
Testicular Adrenal Rest Tumors ◽  
Adrenal Rest ◽  
21 Hydroxylase Deficiency ◽  
Testicular Adrenal Rest

ObjectiveFertility in males with congenital adrenal hyperplasia (CAH) is reported from normal to severely impaired. Therefore, we investigated fertility/fecundity, social/sexual situation, and pituitary–gonadal function in CAH males.Subjects and methodsThe patient cohort comprised 30 males, aged 19–67 years, with 21-hydroxylase deficiency. Their fertility was compared with age-matched national population data. For the evaluation of social/sexual factors and hormone status, age-matched controls were recruited (n=32). Subgroups of different ages (<30 years and older) and CYP21A2 genotypes (null (severe salt-wasting (SW)), I2splice (milder SW), and I172N (simple virilizing)) were also studied. Patients underwent testicular ultrasound examination (n=21) and semen analysis (n=14).ResultsFertility was impaired in CAH males compared with national data (0.9±1.3 vs 1.8±0.5 children/father, P<0.001). There were no major differences in social and sexual factors between patients and controls apart from more fecundity problems, particularly in the I172N group. The patients had lower testosterone/estradiol (E2) ratio and inhibin B, and higher FSH. The semen samples were pathological in 43% (6/14) of patients and sperm concentration correlated with inhibin B and FSH. Testicular adrenal rest tumors (TARTs) were found in 86% (18/21). Functional testicular volume correlated positively with the testosterone/E2 ratio, sperm concentration, and inhibin B. Patients with pathological semen had increased fat mass and indications of increased cardiometabolic risk.ConclusionsFertility/fecundity was impaired in CAH males. The frequent occurrence of TARTs resulting in testicular insufficiency appears to be the major cause, but other factors such as elevated fat mass may contribute to a low semen quality.

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