Faculty Opinions recommendation of Testicular adrenal rest tumors and Leydig and Sertoli cell function in boys with classical congenital adrenal hyperplasia.

2007 ◽  
Author(s):  
Phyllis Speiser
Keyword(s):  
Congenital Adrenal Hyperplasia ◽  
Sertoli Cell ◽  
Cell Function ◽  
Adrenal Hyperplasia ◽  
Testicular Adrenal Rest Tumors ◽  
Adrenal Rest ◽  
Testicular Adrenal Rest

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 Congenital adrenal hyperplasia in men: classical form. Clinical case

2021 ◽  
Vol 17 (4) ◽  
pp. 372-374
Author(s):  
P.M. Liashuk ◽  
N.I. Stankova ◽  
R.P. Liashuk
Keyword(s):  
Congenital Adrenal Hyperplasia ◽  
Replacement Therapy ◽  
Clinical Case ◽  
Cell Function ◽  
Blood Levels ◽  
Adrenal Hyperplasia ◽  
Testicular Adrenal Rest Tumors ◽  
Glucocorticoid Replacement Therapy ◽  
Adrenal Rest ◽  
Testicular Adrenal Rest

Recently, in the foreign scientific literature there have been reports that boys and young men with the classic virile form of congenital adrenal hyperplasia or congenital dysfunction of the adrenal cortex as a result of inadequate glucocorticoid therapy in 21–28 % of cases have testicular adrenal rest tumors, which increases under the influence of excessive production of adrenocorticotropic hormone (ACTH). This benign formation up to 2 cm in diameter and larger is detected by palpation and ultrasound. The formations can press on the testicular tissue and lead to hypogonadism. Such individuals may have low testosterone levels due to decreased Leydig cell function. Testicular adrenal rest tumors usually decrease after treatment optimization. Unreasonable surgery is sometimes performed in suspected cancer. A clinical case is presented of the classic form of congenital adrenal hyperplasia, manifested itself in isosexual precocious puberty, cryptorchidism and testicular adrenal rest tumors rare, increased under the influence of excessive ACTH production as a result of inadequate glucocorticoid replacement therapy. Formations detected during ultrasound decrease when treatment is optimized. Observation of the patient in the dynamics showed that ones of the main diagnostic hormonal tests are blood levels of ACTH and 17-hydroxyprogesterone, which at the time of disease detection were excessively high. Continuous glucocorticoid replacement therapy maintains the level of these indicators within the reference values. Timely diagnosis of the nature of the pathology, constant corrective hormone therapy ensured the patient’s abi­lity to adapt to life and society in accordance with his status. Clinical mani­festations of hypocorticism and/or hyperandrogenism in the parents of our patient were not detected, which indicates autosomal recessive inheritance of congenital adrenal hyperplasia. In the future, it is important to provide genetic counseling to expectant parents, especially with manifestations of hyperandrogenism, to assess the possible development of such pathology in their offspring.

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

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
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