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1. Rajkanna J, Oyibo SO: Large testicular adrenal rest tumours in a patient with congenital adrenal hyperplasia. Endocrinol Diabetes Metab Case Rep; 2015;2015:140080
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  • [Title] Large testicular adrenal rest tumours in a patient with congenital adrenal hyperplasia.
  • Testicular adrenal rest tumours (TARTs) are benign ACTH-dependent tumours that occur in males with congenital adrenal hyperplasia (CAH) and if left untreated can destroy testicular tissue.
  • Corticosteroid suppressive treatment could result in the regression of these testicular tumours.

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  • (PMID = 25755878.001).
  • [ISSN] 2052-0573
  • [Journal-full-title] Endocrinology, diabetes & metabolism case reports
  • [ISO-abbreviation] Endocrinol Diabetes Metab Case Rep
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] England
  • [Other-IDs] NLM/ PMC4315946
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2. Turcu AF, Mallappa A, Elman MS, Avila NA, Marko J, Rao H, Tsodikov A, Auchus RJ, Merke DP: 11-Oxygenated Androgens Are Biomarkers of Adrenal Volume and Testicular Adrenal Rest Tumors in 21-Hydroxylase Deficiency. J Clin Endocrinol Metab; 2017 Aug 01;102(8):2701-2710
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  • [Title] 11-Oxygenated Androgens Are Biomarkers of Adrenal Volume and Testicular Adrenal Rest Tumors in 21-Hydroxylase Deficiency.
  • Context: Patients with 21-hydroxylase deficiency (21OHD) have long-term complications, resulting from poor disease control and/or glucocorticoid overtreatment.
  • Objective: To identify biomarkers of disease control and long-term complications in 21OHD.
  • Methods: We correlated a mass-spectrometry panel of 23 steroids, obtained before first morning medication, with bone age advancement (children), adrenal volume (adults), testicular adrenal rest tumors (TART), hirsutism, menstrual disorders, and pituitary hormones.
  • Results: Total adrenal volume correlated positively with 18 steroids, most prominently 21-deoxycortisol and four 11-oxygenated-C19 (11oxC19) steroids: 11β-hydroxyandrostenedione (11OHA4), 11-ketoandrostenedione (11ketoA4), 11β-hydroxytestosterone (11OHT), and 11-ketotestosterone (11ketoT) (r ≈ 0.7, P < 0.0001).
  • Conclusion: 11oxC19 steroids and PregS might serve as clinically useful biomarkers of disease control and long-term complications in 21OHD.
  • [MeSH-major] Adrenal Hyperplasia, Congenital / metabolism. Adrenal Rest Tumor / metabolism. Androgens / metabolism. Hirsutism / metabolism. Menstruation Disturbances / metabolism. Testicular Neoplasms / metabolism
  • [MeSH-minor] 17-alpha-Hydroxypregnenolone / analogs & derivatives. 17-alpha-Hydroxypregnenolone / metabolism. Adolescent. Adrenal Glands / pathology. Adult. Age Determination by Skeleton. Aged. Androstenedione / analogs & derivatives. Androstenedione / metabolism. Androstenes / metabolism. Child. Child, Preschool. Cortodoxone / metabolism. Cross-Sectional Studies. Female. Humans. Hydroxytestosterones / metabolism. Male. Middle Aged. Organ Size. Pregnenolone / metabolism. Testosterone / analogs & derivatives. Testosterone / metabolism. Young Adult

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  • (PMID = 28472487.001).
  • [ISSN] 1945-7197
  • [Journal-full-title] The Journal of clinical endocrinology and metabolism
  • [ISO-abbreviation] J. Clin. Endocrinol. Metab.
  • [Language] eng
  • [Grant] United States / NIDDK NIH HHS / DK / K08 DK109116; United States / NIDDK NIH HHS / DK / P30 DK089503; United States / NIGMS NIH HHS / GM / R01 GM086596
  • [Publication-type] Journal Article
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / Androgens; 0 / Androstenes; 0 / Hydroxytestosterones; 04Y4D91RG0 / pregnenolone sulfate; 1816-85-9 / 11-hydroxytestosterone; 28901-70-4 / 17-hydroxypregnenolone sulfate; 387-79-1 / 17-alpha-Hydroxypregnenolone; 3XMK78S47O / Testosterone; 409J2J96VR / Androstenedione; 564-32-9 / 11-hydroxyandrostenedione; 641-77-0 / 21-deoxycortisol; 73R90F7MQ8 / Pregnenolone; AE4E9102GY / adrenosterone; KF38W1A85U / 11-ketotestosterone; WDT5SLP0HQ / Cortodoxone; Congenital adrenal hyperplasia due to 21 hydroxylase deficiency
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3. Shin YM: Hepatic adrenal rest tumor mimicking hepatocellular carcinoma. Korean J Hepatol; 2010 Sep;16(3):338-41
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  • [Title] Hepatic adrenal rest tumor mimicking hepatocellular carcinoma.
  • [MeSH-major] Adrenal Rest Tumor / radiography. Liver Neoplasms / radiography

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  • (PMID = 20924220.001).
  • [ISSN] 1738-222X
  • [Journal-full-title] The Korean journal of hepatology
  • [ISO-abbreviation] Korean J Hepatol
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] Korea (South)
  • [Other-IDs] NLM/ PMC3304595
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4. Enjoji M, Sanada K, Seki R, Ito T, Maeda M: Adrenal Rest Tumor of the Liver Preoperatively Diagnosed as Hepatocellular Carcinoma. Case Rep Surg; 2017;2017:8231943
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  • [Title] Adrenal Rest Tumor of the Liver Preoperatively Diagnosed as Hepatocellular Carcinoma.
  • BACKGROUND: Hepatic adrenal rest tumors are rare and show similar findings to hepatocellular carcinoma (HCC).
  • It is difficult to distinguish an adrenal rest tumor from HCC due to radiological similarity.
  • We report a case of an adrenal rest tumor in the liver that mimicked HCC radiologically.
  • CASE PRESENTATION: A 67-year-old female was referred to our hospital due to the finding of a hepatic mass.
  • Enhanced computed tomography revealed a 17 mm well-defined tumor that was enhanced in the arterial phase and washed out in the portal and delayed phase in the posterosuperior subsegment of the right hepatic lobe, and HCC was suspected.
  • Microscopic findings showed that the tumor was composed of pale cells, and tumor cells were aligned in alveolar or fascicular arrangements in a similar manner to features of adrenocortical tissue.
  • Immunohistochemically, the tumor expressed synaptophysin and CD56.
  • The final histopathologic diagnosis in this case was an adrenal rest tumor of the liver.
  • CONCLUSIONS: An adrenal rest tumor is similar to HCC in radiological findings.
  • This hepatic tumor should be added to the list of radiological differential diagnoses of hypervascular hepatic tumors.

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5. Charfi N, Kamoun M, Feki Mnif M, Mseddi N, Mnif F, Kallel N, Ben Naceur B, Rekik N, Fourati H, Daoud E, Mnif Z, Hadj Sliman M, Sellami-Boudawara T, Abid M: Leydig Cell Tumor Associated with Testicular Adrenal Rest Tumors in a Patient with Congenital Adrenal Hyperplasia due to 11β-Hydroxylase Deficiency. Case Rep Urol; 2012;2012:648643
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  • [Title] Leydig Cell Tumor Associated with Testicular Adrenal Rest Tumors in a Patient with Congenital Adrenal Hyperplasia due to 11β-Hydroxylase Deficiency.
  • Congenital adrenal hyperplasia (CAH) describes a group of inherited autosomal recessive disorders characterized by enzyme defects in the steroidogenic pathways that lead to the biosynthesis of cortisol, aldosterone, and androgens.
  • Chronic excessive adrenocorticotropic hormone (ACTH) stimulation may result in hyperplasia of ACTH-sensitive tissues in adrenal glands and other sites such as the testes, causing testicular masses known as testicular adrenal rest tumors (TARTs).
  • Leydig cell tumors (LCTs) are make up a very small number of all testicular tumors and can be difficult to distinguish from TARTs.
  • Hereby, we present an unusual case of a 19-year-old patient with CAH due to 11β-hydroxylase deficiency, who presented with TARTs and an epididymal Leydig cell tumor.

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  • [ISO-abbreviation] Case Rep Urol
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6. Güven A, Polat S: Testicular Adrenal Rest Tumor in Two Brothers with a Novel Mutation in the 3-Beta-Hydroxysteroid Dehydrogenase-2 Gene. J Clin Res Pediatr Endocrinol; 2017 Mar 01;9(1):85-90
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  • [Title] Testicular Adrenal Rest Tumor in Two Brothers with a Novel Mutation in the 3-Beta-Hydroxysteroid Dehydrogenase-2 Gene.
  • Testicular adrenal rest tumors (TART) occur frequently in adolescents and adults with 21-hydroxylase deficiency.
  • [MeSH-major] Adrenal Rest Tumor / genetics. Mutation, Missense. Progesterone Reductase / genetics. Siblings. Testicular Neoplasms / genetics

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  • (PMID = 27476613.001).
  • [ISSN] 1308-5735
  • [Journal-full-title] Journal of clinical research in pediatric endocrinology
  • [ISO-abbreviation] J Clin Res Pediatr Endocrinol
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] Turkey
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7. Witchel SF: Congenital Adrenal Hyperplasia. J Pediatr Adolesc Gynecol; 2017 Oct;30(5):520-534
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Congenital Adrenal Hyperplasia.
  • The congenital adrenal hyperplasias comprise a family of autosomal recessive disorders that disrupt adrenal steroidogenesis.
  • The clinical features associated with each disorder of adrenal steroidogenesis represent a clinical spectrum that reflect the consequences of the specific mutations.
  • For adolescent and adult men, prevention and early treatment of testicular adrenal rest tumors is beneficial.
  • In this article key aspects regarding pathophysiology, diagnosis, and treatment of congenital adrenal hyperplasia are reviewed.
  • [MeSH-major] Adrenal Hyperplasia, Congenital / diagnosis. Steroid 21-Hydroxylase / genetics

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  • [Copyright] Copyright © 2017 North American Society for Pediatric and Adolescent Gynecology. Published by Elsevier Inc. All rights reserved.
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  • (PMID = 28450075.001).
  • [ISSN] 1873-4332
  • [Journal-full-title] Journal of pediatric and adolescent gynecology
  • [ISO-abbreviation] J Pediatr Adolesc Gynecol
  • [Language] eng
  • [Grant] United States / NIDA NIH HHS / DA / R21 DA037958
  • [Publication-type] Journal Article; Review
  • [Publication-country] United States
  • [Chemical-registry-number] EC 1.14.14.16 / CYP21A2 protein, human; EC 1.14.14.16 / Steroid 21-Hydroxylase
  • [Keywords] NOTNLM ; Ambiguous genitalia / CYP21A2 / Congenital adrenal hyperplasia / Hyperandrogenism / Premature adrenarche / Premature pubarche
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8. Yu MK, Jung MK, Kim KE, Kwon AR, Chae HW, Kim DH, Kim HS: Clinical manifestations of testicular adrenal rest tumor in males with congenital adrenal hyperplasia. Ann Pediatr Endocrinol Metab; 2015 Sep;20(3):155-61
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Clinical manifestations of testicular adrenal rest tumor in males with congenital adrenal hyperplasia.
  • PURPOSE: In male patients with congenital adrenal hyperplasia (CAH), the presence of testicular adrenal rest tumors (TARTs) have been reported, however their prevalence and clinical manifestations are not well known.
  • The median age of TARTs diagnosis was 20.2 years with the youngest case being 15.5 years old.
  • The tumor size decreased in 3 cases, slightly increased in 1 case, and had no change in another case.

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  • (PMID = 26512352.001).
  • [ISSN] 2287-1012
  • [Journal-full-title] Annals of pediatric endocrinology & metabolism
  • [ISO-abbreviation] Ann Pediatr Endocrinol Metab
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] Korea (South)
  • [Other-IDs] NLM/ PMC4623344
  • [Keywords] NOTNLM ; Adrenal rest tumor / Adrenocorticotropic hormone / Congenital adrenal hyperplasia
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9. Sha YK, Sha YW, Ding L, Liu WW, Song YQ, Lin J, He XM, Qiu PP, Zhang L, Li P: A Case of Bilateral Testicular Tumors Subsequently Diagnosed as Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency. Int J Fertil Steril; 2016 Jan-Mar;9(4):574-80
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] 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 of CAH.
  • 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.
  • Immunohistochemistry results precluded a diagnosis of Leydig cell tumors.
  • 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.

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  • (PMID = 26985347.001).
  • [ISSN] 2008-076X
  • [Journal-full-title] International journal of fertility & sterility
  • [ISO-abbreviation] Int J Fertil Steril
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] Iran
  • [Other-IDs] NLM/ PMC4793180
  • [Keywords] NOTNLM ; 21-hydroxylase Deficiency / Congenital Adrenal Hyperplasia / Precocious Puberty
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10. Kim MS, Goodarzian F, Keenan MF, Geffner ME, Koppin CM, De Filippo RE, Kokorowski PJ: Testicular Adrenal Rest Tumors in Boys and Young Adults with Congenital Adrenal Hyperplasia. J Urol; 2017 Mar;197(3 Pt 2):931-936
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Testicular Adrenal Rest Tumors in Boys and Young Adults with Congenital Adrenal Hyperplasia.
  • PURPOSE: Testicular adrenal rest tumors are a well-known complication in males who have congenital adrenal hyperplasia with potential infertility in adulthood.
  • We assessed the prevalence of testicular adrenal rest tumors in infants to young men presenting to a congenital adrenal hyperplasia Comprehensive Care Center.
  • MATERIALS AND METHODS: A total of 35 males with congenital adrenal hyperplasia due to 21-hydroxylase deficiency underwent scrotal ultrasonography, including 7 younger than 5 years, 9 who were 5 to 12 years old and 19 who were older than 12 years.
  • Three and 35 patients had classic and nonclassic congenital adrenal hyperplasia, respectively.
  • RESULTS: Testicular adrenal rest tumors were detected in 5 of 35 patients (14%), including 1 of 9 (11%) who were 5 to 12 years old and 4 of 19 (21%) who were older than 12 years.
  • The tumors were not detected in any patients younger than 5 years, including 1 infant with poor hormonal control.
  • All patients with positive findings had bilateral disease and only 1 had suspicious physical findings.
  • The glucocorticoid dose and 17-hydroxyprogesterone did not differ between patients with vs without a testicular adrenal rest tumor.
  • Those with a tumor were more likely to have advanced bone age x-ray results (100% vs 42%, p = 0.04) and higher fludrocortisone dose (p <0.01).
  • All males with nonclassic congenital adrenal hyperplasia had negative tumor findings.
  • CONCLUSIONS: Testicular adrenal rest tumors were present in young males with classic congenital adrenal hyperplasia but not in infants or toddlers.
  • These tumors were associated with higher fludrocortisone requirements and a history of advanced bone age x-ray results.
  • However, the tumors did not develop in all poorly controlled males.
  • Longitudinal studies are needed to understand the individual predisposition to testicular adrenal rest tumors and the age at which to begin screening patients with congenital adrenal hyperplasia.

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  • [Copyright] Copyright © 2017 American Urological Association Education and Research, Inc. Published by Elsevier Inc. All rights reserved.
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  • (PMID = 27840017.001).
  • [ISSN] 1527-3792
  • [Journal-full-title] The Journal of urology
  • [ISO-abbreviation] J. Urol.
  • [Language] eng
  • [Grant] United States / NICHD NIH HHS / HD / K23 HD084735
  • [Publication-type] Journal Article
  • [Publication-country] United States
  • [Keywords] NOTNLM ; adrenal hyperplasia / adrenal rest tumor / congenital / mass screening / steroid 21-hydroxylase / testis
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