scholarly journals High Prevalence of Testicular Adrenal Rest Tumors, Impaired Spermatogenesis, and Leydig Cell Failure in Adolescent and Adult Males with Congenital Adrenal Hyperplasia

2001 ◽  
Vol 86 (12) ◽  
pp. 5721-5728 ◽  
Author(s):  
Nike M. M. L. Stikkelbroeck ◽  
Barto J. Otten ◽  
Arifa Pasic ◽  
Gerrit J. Jager ◽  
C. G. J. Fred Sweep ◽  
...  
Keyword(s):  
Congenital Adrenal Hyperplasia ◽  
Leydig Cell ◽  
Adult Males ◽  
Adrenal Hyperplasia ◽  
Testicular Adrenal Rest Tumors ◽  
High Prevalence ◽  
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.

scholarly journals Testicular Adrenal Rest Tumors and Leydig and Sertoli Cell Function in Boys with Classical Congenital Adrenal Hyperplasia

2007 ◽  
Vol 92 (12) ◽  
pp. 4583-4589 ◽  
Author(s):  
A. Martinez-Aguayo ◽  
A. Rocha ◽  
N. Rojas ◽  
C. García ◽  
R. Parra ◽  
...  
Keyword(s):  
Congenital Adrenal Hyperplasia ◽  
Sertoli Cell ◽  
Leydig Cell ◽  
Cell Function ◽  
Chronological Age ◽  
Control Group ◽  
Adrenal Hyperplasia ◽  
Testicular Adrenal Rest Tumors ◽  
Adrenal Rest ◽  
Testicular Adrenal Rest

Abstract Context: Infertility observed in adult males with congenital adrenal hyperplasia (CAH) has been associated with testicular adrenal rest tumors (TART) that may originate during childhood. Objective: Our objective was to describe the prevalence of TART and Sertoli and Leydig cell function in a group of boys aged 2–10 yr with CAH and to compare prevalence with that of a control group. Design: From August 2005 to January 2007, 19 patients with classical CAH (CAH group) were referred from seven endocrinology centers. Methods: We studied 19 subjects in the CAH group and, as a control group, 13 boys from the community that did not have testicular diseases. A complete physical exam was performed. High-resolution ultrasound was used to determine TART prevalence. Inhibin B and anti-Müllerian hormone were used as Sertoli cell markers. The ratio between basal testosterone levels and testosterone levels 72 h after β-human chorionic gonadotropin (5000 U/m2) treatment [(T72− T0)/T0] was used to evaluate Leydig cell response. Results: CAH and control groups were comparable in chronological age (5.9 vs. 5.6 yr; P = 0.67) and bone age/chronological age ratio (1.09 vs. 1.03; P = 0.09). TART prevalence was four of 19 (21%) in the CAH group. Lower values for inhibin B (49.2. vs. 65.2 pg/ml; P = 0.018), anti-Müllerian hormone (70.1 vs. 94.2 ng/ml; P = 0.002), and (T72− T0)/T0 (5.6 vs. 13.6; P < 0.01) were observed in the CAH group. Conclusion: TART in prepubertal males with classic CAH could be found during childhood. We also report differences in markers of gonadal function in a subgroup of patients, especially in those with inadequate control.

scholarly journals Leydig Cell Tumor Associated with Testicular Adrenal Rest Tumors in a Patient with Congenital Adrenal Hyperplasia due to 11β-Hydroxylase Deficiency

2012 ◽  
Vol 2012 ◽  
pp. 1-5 ◽  
Author(s):  
Nadia Charfi ◽  
Mahdi Kamoun ◽  
Mouna Feki Mnif ◽  
Neila Mseddi ◽  
Fatma Mnif ◽  
...  
Keyword(s):  
Congenital Adrenal Hyperplasia ◽  
Leydig Cell ◽  
Leydig Cell Tumor ◽  
Cell Tumor ◽  
Adrenal Hyperplasia ◽  
Acth Stimulation ◽  
Hydroxylase Deficiency ◽  
Testicular Adrenal Rest Tumors ◽  
Adrenal Rest ◽  
Testicular Adrenal Rest

Congenital adrenal hyperplasia (CAH) describes a group of inherited autosomal recessive disorders characterized by enzyme defects in the steroidogenic pathways that lead to the biosynthesis of cortisol, aldosterone, and androgens. Chronic excessive adrenocorticotropic hormone (ACTH) stimulation may result in hyperplasia of ACTH-sensitive tissues in adrenal glands and other sites such as the testes, causing testicular masses known as testicular adrenal rest tumors (TARTs). Leydig cell tumors (LCTs) are make up a very small number of all testicular tumors and can be difficult to distinguish from TARTs. This distinction is interesting because LCTs and TARTs require different therapeutic approaches. Hereby, we present an unusual case of a 19-year-old patient with CAH due to 11β-hydroxylase deficiency, who presented with TARTs and an epididymal Leydig cell tumor.

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