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A Case of Bilateral Testicular Tumors Subsequently Diagnosed as Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency
21-hydroxylase deficiency (21-OHD) caused congenital adrenal hyperplasia (CAH) is a group of autosomal recessive genetic disorders resulting from mutations in genes involved with cortisol (CO) synthesis in the adrenal glands. Testicular adrenal rest tumors (TARTs) are rarely the presenting symptoms...
Autores principales: | , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Royan Institute
2016
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4793180/ https://www.ncbi.nlm.nih.gov/pubmed/26985347 |
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author | Sha, Yan-Kun Sha, Yan-Wei Ding, Lu Liu, Wei-Wu Song, Yue-Qiang Lin, Jin He, Xue-Mei Qiu, Ping-Ping Zhang, Ling Li, Ping |
author_facet | Sha, Yan-Kun Sha, Yan-Wei Ding, Lu Liu, Wei-Wu Song, Yue-Qiang Lin, Jin He, Xue-Mei Qiu, Ping-Ping Zhang, Ling Li, Ping |
author_sort | Sha, Yan-Kun |
collection | PubMed |
description | 21-hydroxylase deficiency (21-OHD) caused congenital adrenal hyperplasia (CAH) is a group of autosomal recessive genetic disorders resulting from mutations in genes involved with cortisol (CO) synthesis in the adrenal glands. Testicular adrenal rest tumors (TARTs) are rarely the presenting symptoms of CAH. Here, we describe a case of simple virilizing CAH with TARTs, in a 15-year-old boy. The patient showed physical signs of precocious puberty. The levels of blood adrenocorticotropic hormone (ACTH), urinary 17-ketone steroids (17-KS), dehydroepiandrosterone sulfate (DHEA-S), and serum progesterone (PRGE) were elevated, whereas those of follicle-stimulating hormone (FSH), luteinizing hormone (LH), and CO were reduced. Computed tomography (CT) of the adrenal glands and magnetic resonance imaging (MRI) of the testes showed a soft tissue density (more pronounced on the right side) and an irregularly swollen mass (more pronounced on the left side), respectively. Pathological examination of a specimen of the mass indicated polygonal/circular eosinophilic cytoplasm, cord-like arrangement of interstitial cells, and lipid pigment in the cytoplasm. Immunohistochemistry results precluded a diagnosis of Leydig cell tumors. DNA sequencing revealed a hackneyed homozygous mutation, I2g, on intron 2 of the CYP21A2 gene. The patient’s symptoms improved after a three-month of dexamethasone therapy. Recent radiographic data showed reduced hyperplastic adrenal nodules and testicular tumors. A diagnosis of TART should be considered and prioritized in CAH patients with testicular tumors. Replacement therapy using a sufficient amount of dexamethasone in this case helps combat TART. |
format | Online Article Text |
id | pubmed-4793180 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2016 |
publisher | Royan Institute |
record_format | MEDLINE/PubMed |
spelling | pubmed-47931802016-03-16 A Case of Bilateral Testicular Tumors Subsequently Diagnosed as Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency Sha, Yan-Kun Sha, Yan-Wei Ding, Lu Liu, Wei-Wu Song, Yue-Qiang Lin, Jin He, Xue-Mei Qiu, Ping-Ping Zhang, Ling Li, Ping Int J Fertil Steril Case Report 21-hydroxylase deficiency (21-OHD) caused congenital adrenal hyperplasia (CAH) is a group of autosomal recessive genetic disorders resulting from mutations in genes involved with cortisol (CO) synthesis in the adrenal glands. Testicular adrenal rest tumors (TARTs) are rarely the presenting symptoms of CAH. Here, we describe a case of simple virilizing CAH with TARTs, in a 15-year-old boy. The patient showed physical signs of precocious puberty. The levels of blood adrenocorticotropic hormone (ACTH), urinary 17-ketone steroids (17-KS), dehydroepiandrosterone sulfate (DHEA-S), and serum progesterone (PRGE) were elevated, whereas those of follicle-stimulating hormone (FSH), luteinizing hormone (LH), and CO were reduced. Computed tomography (CT) of the adrenal glands and magnetic resonance imaging (MRI) of the testes showed a soft tissue density (more pronounced on the right side) and an irregularly swollen mass (more pronounced on the left side), respectively. Pathological examination of a specimen of the mass indicated polygonal/circular eosinophilic cytoplasm, cord-like arrangement of interstitial cells, and lipid pigment in the cytoplasm. Immunohistochemistry results precluded a diagnosis of Leydig cell tumors. DNA sequencing revealed a hackneyed homozygous mutation, I2g, on intron 2 of the CYP21A2 gene. The patient’s symptoms improved after a three-month of dexamethasone therapy. Recent radiographic data showed reduced hyperplastic adrenal nodules and testicular tumors. A diagnosis of TART should be considered and prioritized in CAH patients with testicular tumors. Replacement therapy using a sufficient amount of dexamethasone in this case helps combat TART. Royan Institute 2016 2015-12-23 /pmc/articles/PMC4793180/ /pubmed/26985347 Text en Any use, distribution, reproduction or abstract of this publication in any medium, with the exception of commercial purposes, is permitted provided the original work is properly cited http://creativecommons.org/licenses/by/2.5/ This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. |
spellingShingle | Case Report Sha, Yan-Kun Sha, Yan-Wei Ding, Lu Liu, Wei-Wu Song, Yue-Qiang Lin, Jin He, Xue-Mei Qiu, Ping-Ping Zhang, Ling Li, Ping A Case of Bilateral Testicular Tumors Subsequently Diagnosed as Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency |
title | A Case of Bilateral Testicular Tumors Subsequently
Diagnosed as Congenital Adrenal Hyperplasia
Due to 21-Hydroxylase Deficiency |
title_full | A Case of Bilateral Testicular Tumors Subsequently
Diagnosed as Congenital Adrenal Hyperplasia
Due to 21-Hydroxylase Deficiency |
title_fullStr | A Case of Bilateral Testicular Tumors Subsequently
Diagnosed as Congenital Adrenal Hyperplasia
Due to 21-Hydroxylase Deficiency |
title_full_unstemmed | A Case of Bilateral Testicular Tumors Subsequently
Diagnosed as Congenital Adrenal Hyperplasia
Due to 21-Hydroxylase Deficiency |
title_short | A Case of Bilateral Testicular Tumors Subsequently
Diagnosed as Congenital Adrenal Hyperplasia
Due to 21-Hydroxylase Deficiency |
title_sort | case of bilateral testicular tumors subsequently
diagnosed as congenital adrenal hyperplasia
due to 21-hydroxylase deficiency |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4793180/ https://www.ncbi.nlm.nih.gov/pubmed/26985347 |
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