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

Gabriela Werneck; Enda M.R. Rodrigues; Rafael M. Mantovani; Jovita S.S. Lane; Ivani N. Silva

doi:10.1515/jpem-2018-0512

Article

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

Gabriela Werneck , Enda M.R. Rodrigues , Rafael M. Mantovani , Jovita S.S. Lane and Ivani N. Silva

Published/Copyright: May 10, 2019

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From the journal Journal of Pediatric Endocrinology and Metabolism Volume 32 Issue 5

Abstract

Background

Testicular 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.

Methods

Twelve 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.

Results

The 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).

Conclusions

We 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.

Keywords: congenital adrenal hyperplasia; testicular neoplasms; ultrasonography

Corresponding author: Dr. Gabriela Werneck, Divisão de Endocrinologia Infantil e do Adolescente – Departamento de Pediatria, Faculdade de Medicina/Hospital das Clínicas, Universidade Federal de Minas Gerais, Av. Alfredo Balena 190, s/267, 30130-100, Belo Horizonte, MG, Brazil, Phone: +55-31-34099773

Acknowledgments

The authors wish to thank all the patients involved in the study and the personal staff from the Department of Pediatric Endocrinology for their contibution and assistance in all the steps of the study.

Author contributions: All the authors have accepted responsibility for the entire content of this submitted manuscript and approved submission.
Research funding: None declared.
Employment or leadership: None declared.
Honorarium: None declared.
Competing interests: The funding organization(s) played no role in the study design; in the collection, analysis, and interpretation of data; in the writing of the report; or in the decision to submit the report for publication.

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Received: 2018-11-26

Accepted: 2019-03-14

Published Online: 2019-05-10

Published in Print: 2019-05-27

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Articles in the same Issue

https://doi.org/10.1515/jpem-2018-0512

Keywords for this article

congenital adrenal hyperplasia; testicular neoplasms; ultrasonography