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PSAT048 Management of a Unilateral Testicular Tumor in a Patient with Congenital Adrenal Hyperplasia – Malignancy or Testicular Adrenal Rest Tumor?

Male patients with Congenital Adrenal Hyperplasia (CAH) are at risk of developing testicular adrenal rest tumors (TART). Late presentations are rare and often misdiagnosed as primary testicular germ cell tumors or other more common benign testicular lesions. We describe the case of a patient with CA...

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Autores principales: Faruqi, Jordana, Gaba, Ruchi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9624610/
http://dx.doi.org/10.1210/jendso/bvac150.221
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author Faruqi, Jordana
Gaba, Ruchi
author_facet Faruqi, Jordana
Gaba, Ruchi
author_sort Faruqi, Jordana
collection PubMed
description Male patients with Congenital Adrenal Hyperplasia (CAH) are at risk of developing testicular adrenal rest tumors (TART). Late presentations are rare and often misdiagnosed as primary testicular germ cell tumors or other more common benign testicular lesions. We describe the case of a patient with CAH and a unilateral testicular tumor with regression in size after initiation of dexamethasone. A 24-year-old male with salt-wasting form of 21-hydroxylase deficiency underwent testicular U/S for evaluation of TART. While aware of a painless firm nodule on the latero-posterior aspect of his left testicle, his main concern was new onset infertility as he had conceived previously. He denied personal or family history of malignancy. Testicular U/S showed a 1.1×0.7×0.8 cm ill-defined, heterogeneously hypoechoic lesion with scattered calcifications and internal vascularity. He was referred to urology to undergo evaluation for possible for testicular cancer. CT abdomen/pelvis showed no evidence of metastatic disease. AFP was less than 2.5 ng/mL (reference range < 9.0 ng/mL), hCG was less than 1.0 mIU/mL (reference range<5.0 mIU/mL), and LDH was 221 U/L (reference range 140-271 U/L). The patient declined surgical intervention at this point and requested medical management. After discussion with the patient, we opted to trial dexamethasone to help suppress the nocturnal surge of ACTH in addition to his physiological dose of prednisone and fludrocortisone for CAH. He was started on 0.25 mg of dexamethasone followed closely with serial imaging and labs. Prior to initiation of dexamethasone, ACTH was 90.3 pg/mL (reference range 7.2–63.3 pg/mL). Two months after initiation of dexamethasone, ACTH decreased to 10.0 pg/mL. LH after initiation of dexamethasone was 8.58 mIU/mL (reference range 1.24–8.62 mIU/mL), FSH was 11.90 (reference range 1.27–19.26 mIU/mL), and testosterone level was 177 ng/dL (reference range 259-818 ng/dL). Testicular U/S six months after starting dexamethasone showed a 50% reduction in size of the heterogeneous hypoechoic left testicular lesion measuring 0.5×0.5×0.4 cm consistent with TART. However, he continued to have concerns regarding infertility, with work-up currently underway. TARTs are thought to arise from aberrant adrenal cells that may descend with the testes during embryogenesis. High ACTH levels in CAH due to lack of negative feedback can cause proliferation of these undifferentiated adrenal cells. Infertility is a predominant symptom due to local mass effect on the testes. Treatment of TART to prevent infertility requires elucidating an optimal steroid regimen that suppresses ACTH production, without suppression of LH and FSH. Moreover, most of the TARTs (around 80%) are bilateral and never malignant. Our patient's testicular tumor poses a diagnostic challenge given the late and atypical presentation of a unilateral tumor. The response to dexamethasone is very reassuring but continued surveillance is warranted. Presentation: Saturday, June 11, 2022 1:00 p.m. - 3:00 p.m.
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spelling pubmed-96246102022-11-14 PSAT048 Management of a Unilateral Testicular Tumor in a Patient with Congenital Adrenal Hyperplasia – Malignancy or Testicular Adrenal Rest Tumor? Faruqi, Jordana Gaba, Ruchi J Endocr Soc Adrenal Male patients with Congenital Adrenal Hyperplasia (CAH) are at risk of developing testicular adrenal rest tumors (TART). Late presentations are rare and often misdiagnosed as primary testicular germ cell tumors or other more common benign testicular lesions. We describe the case of a patient with CAH and a unilateral testicular tumor with regression in size after initiation of dexamethasone. A 24-year-old male with salt-wasting form of 21-hydroxylase deficiency underwent testicular U/S for evaluation of TART. While aware of a painless firm nodule on the latero-posterior aspect of his left testicle, his main concern was new onset infertility as he had conceived previously. He denied personal or family history of malignancy. Testicular U/S showed a 1.1×0.7×0.8 cm ill-defined, heterogeneously hypoechoic lesion with scattered calcifications and internal vascularity. He was referred to urology to undergo evaluation for possible for testicular cancer. CT abdomen/pelvis showed no evidence of metastatic disease. AFP was less than 2.5 ng/mL (reference range < 9.0 ng/mL), hCG was less than 1.0 mIU/mL (reference range<5.0 mIU/mL), and LDH was 221 U/L (reference range 140-271 U/L). The patient declined surgical intervention at this point and requested medical management. After discussion with the patient, we opted to trial dexamethasone to help suppress the nocturnal surge of ACTH in addition to his physiological dose of prednisone and fludrocortisone for CAH. He was started on 0.25 mg of dexamethasone followed closely with serial imaging and labs. Prior to initiation of dexamethasone, ACTH was 90.3 pg/mL (reference range 7.2–63.3 pg/mL). Two months after initiation of dexamethasone, ACTH decreased to 10.0 pg/mL. LH after initiation of dexamethasone was 8.58 mIU/mL (reference range 1.24–8.62 mIU/mL), FSH was 11.90 (reference range 1.27–19.26 mIU/mL), and testosterone level was 177 ng/dL (reference range 259-818 ng/dL). Testicular U/S six months after starting dexamethasone showed a 50% reduction in size of the heterogeneous hypoechoic left testicular lesion measuring 0.5×0.5×0.4 cm consistent with TART. However, he continued to have concerns regarding infertility, with work-up currently underway. TARTs are thought to arise from aberrant adrenal cells that may descend with the testes during embryogenesis. High ACTH levels in CAH due to lack of negative feedback can cause proliferation of these undifferentiated adrenal cells. Infertility is a predominant symptom due to local mass effect on the testes. Treatment of TART to prevent infertility requires elucidating an optimal steroid regimen that suppresses ACTH production, without suppression of LH and FSH. Moreover, most of the TARTs (around 80%) are bilateral and never malignant. Our patient's testicular tumor poses a diagnostic challenge given the late and atypical presentation of a unilateral tumor. The response to dexamethasone is very reassuring but continued surveillance is warranted. Presentation: Saturday, June 11, 2022 1:00 p.m. - 3:00 p.m. Oxford University Press 2022-11-01 /pmc/articles/PMC9624610/ http://dx.doi.org/10.1210/jendso/bvac150.221 Text en © The Author(s) 2022. Published by Oxford University Press on behalf of the Endocrine Society. https://creativecommons.org/licenses/by-nc-nd/4.0/This is an Open Access article distributed under the terms of the Creative Commons Attribution-NonCommercial-NoDerivs licence (https://creativecommons.org/licenses/by-nc-nd/4.0/), which permits non-commercial reproduction and distribution of the work, in any medium, provided the original work is not altered or transformed in any way, and that the work is properly cited. For commercial re-use, please contact journals.permissions@oup.com
spellingShingle Adrenal
Faruqi, Jordana
Gaba, Ruchi
PSAT048 Management of a Unilateral Testicular Tumor in a Patient with Congenital Adrenal Hyperplasia – Malignancy or Testicular Adrenal Rest Tumor?
title PSAT048 Management of a Unilateral Testicular Tumor in a Patient with Congenital Adrenal Hyperplasia – Malignancy or Testicular Adrenal Rest Tumor?
title_full PSAT048 Management of a Unilateral Testicular Tumor in a Patient with Congenital Adrenal Hyperplasia – Malignancy or Testicular Adrenal Rest Tumor?
title_fullStr PSAT048 Management of a Unilateral Testicular Tumor in a Patient with Congenital Adrenal Hyperplasia – Malignancy or Testicular Adrenal Rest Tumor?
title_full_unstemmed PSAT048 Management of a Unilateral Testicular Tumor in a Patient with Congenital Adrenal Hyperplasia – Malignancy or Testicular Adrenal Rest Tumor?
title_short PSAT048 Management of a Unilateral Testicular Tumor in a Patient with Congenital Adrenal Hyperplasia – Malignancy or Testicular Adrenal Rest Tumor?
title_sort psat048 management of a unilateral testicular tumor in a patient with congenital adrenal hyperplasia – malignancy or testicular adrenal rest tumor?
topic Adrenal
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9624610/
http://dx.doi.org/10.1210/jendso/bvac150.221
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