Testicular Adrenal Rest Tumors in Patients with Congenital Adrenal Hyperplasia: A Case Series

INTRODUCTION: Testicular adrenal rest tumors (TARTs) are the main etiology of infertility in congenital adrenal hyperplasia (CAH). The aim of this study is to determine the patients diagnosed with TART and to evaluate the risk factors associated with the development of the disease. METHODS: Clinical characteristics of 31 patients with CAH including 19 male, and 12 female patients who were followed up in our clinic were retrospectively reviewed regarding the presence of TART. Differences between clinical and laboratory findings of patients with and without TART were examined. Six male patients with TART were included in the study. Clinical characteristics such as pubertal stage, treatment doses, laboratory findings were evaluated. Changes in size of TARTs were examined with ultrasound follow-ups at six month- intervals. RESULTS: The prevalence of TARTs was 31.5 % (6/19 male). Precocious puberty was higher in patients with TART than without TART. The mean age of the patients was 9.1±2.4 (range: 5.2-12.4) years at the time of diagnosis with TART. Five patients with TART were inadequately controlled. Four patients had a history of precocious puberty. Tumor progression was detected in 4 of 6 patients. In three patients with tumor progression, serum 17-hydroxy progesterone (17-OHP) values increased during follow-up, probably due to non-compliance with treatment. DISCUSSION AND CONCLUSION: Scrotal ultrasound monitoring should be performed in all male patients with CAH in early childhood irrespective of disease control.

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

Journal of Pediatric Endocrinology and Metabolism ◽

10.1515/jpem-2018-0512 ◽

2019 ◽

Vol 32 (5) ◽

pp. 519-526 ◽

Cited By ~ 1

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.

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Testicular adrenal rest tumors in congenital adrenal hyperplasia—cross-sectional study of 51 Croatian male patients

European Journal of Pediatrics ◽

10.1007/s00431-017-3008-7 ◽

2017 ◽

Vol 176 (10) ◽

pp. 1393-1404 ◽

Cited By ~ 10

Author(s):

Miroslav Dumic ◽

Vlatko Duspara ◽

Zorana Grubic ◽

Sasa Kralik Oguic ◽

Veselin Skrabic ◽

...

Keyword(s):

Congenital Adrenal Hyperplasia ◽

Cross Sectional Study ◽

Sectional Study ◽

Adrenal Hyperplasia ◽

Cross Sectional ◽

Testicular Adrenal Rest Tumors ◽

Male Patients ◽

Adrenal Rest ◽

Testicular Adrenal Rest

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Abstract #108 Large Testicular Adrenal Rest Tumors in a Patient with Congenital Adrenal Hyperplasia

Endocrine Practice ◽

10.1016/s1530-891x(20)47011-9 ◽

2018 ◽

Vol 24 ◽

pp. 5

Author(s):

Boji Varghese ◽

Cassandra Falk ◽

Nisha Nigil Haroon

Keyword(s):

Congenital Adrenal Hyperplasia ◽

Adrenal Hyperplasia ◽

Testicular Adrenal Rest Tumors ◽

Adrenal Rest ◽

Testicular Adrenal Rest

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

The Journal of Clinical Endocrinology & Metabolism ◽

10.1210/jc.2014-2036 ◽

2015 ◽

Vol 100 (3) ◽

pp. E524-E530 ◽

Cited By ~ 28

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.

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