scholarly journals Bilateral Testicular Tumors Resulting in Recurrent Cushing Disease After Bilateral Adrenalectomy

2016 ◽  
Vol 102 (2) ◽  
pp. 339-344 ◽  
Author(s):  
Troy Puar ◽  
Manon Engels ◽  
Antonius E. van Herwaarden ◽  
Fred C. G. J. Sweep ◽  
Christina Hulsbergen-van de Kaa ◽  
...  
Keyword(s):  
Congenital Adrenal Hyperplasia ◽  
Expression Analysis ◽  
Quantitative Polymerase Chain Reaction ◽  
Bilateral Adrenalectomy ◽  
Adrenal Hyperplasia ◽  
Testicular Tumors ◽  
Cushing Disease ◽  
Mrna Expression Analysis ◽  
Metabolome Profiling ◽  
Adrenal Rest

Abstract Context: Recurrence of hypercortisolism in patients after bilateral adrenalectomy for Cushing disease is extremely rare. Patient: We present a 27-year-old man who previously underwent bilateral adrenalectomy for Cushing disease with complete clinical resolution. Cushingoid features recurred 12 years later, with bilateral testicular enlargement. Hormonal tests confirmed adrenocorticotropic hormone (ACTH)-dependent Cushing disease. Surgical resection of the testicular tumors led to clinical and biochemical remission. Design and Results: Gene expression analysis of the tumor tissue by quantitative polymerase chain reaction showed high expression of all key steroidogenic enzymes. Adrenocortical-specific genes were 5.1 × 105 (CYP11B1), 1.8 × 102 (CYP11B2), and 6.3 × 104 (MC2R) times higher than nonsteroidogenic fibroblast control. This correlated with urine steroid metabolome profiling showing 2 fivefold increases in the excretion of the metabolites of 11-deoxycortisol, 21-deoxycortisol, and total glucocorticoids. Leydig-specific genes were 4.3 × 101 (LHCGR) and 9.3 × 100 (HSD17B3) times higher than control, and urinary steroid profiling showed twofold increased excretion of the major androgen metabolites androsterone and etiocholanolone. These distinctly increased steroid metabolites were suppressed by dexamethasone but unresponsive to human chorionic gonadotropin stimulation, supporting the role of ACTH, but not luteinizing hormone, in regulating tumor-specific steroid excess. Conclusion: We report bilateral testicular tumors occurring in a patient with recurrent Cushing disease 12 years after bilateral adrenalectomy. Using mRNA expression analysis and steroid metabolome profiling, the tumors demonstrated both adrenocortical and gonadal steroidogenic properties, similar to testicular adrenal rest tumors found in patients with congenital adrenal hyperplasia, suggesting the presence of pluripotent cells even in patients without congenital adrenal hyperplasia.

scholarly journals Metachronous Bilateral Testicular Leydig-Like Tumors Leading to the Diagnosis of Congenital Adrenal Hyperplasia (Adrenogenital Syndrome)

2015 ◽  
Vol 2015 ◽  
pp. 1-6 ◽  
Author(s):  
Josip Vukina ◽  
David D. Chism ◽  
Julie L. Sharpless ◽  
Mathew C. Raynor ◽  
Matthew I. Milowsky ◽  
...  
Keyword(s):  
Congenital Adrenal Hyperplasia ◽  
Leydig Cell ◽  
Elevated Serum ◽  
Adrenal Hyperplasia ◽  
Testicular Tumors ◽  
Left Testis ◽  
Adrenogenital Syndrome ◽  
Radical Orchiectomy ◽  
Adrenal Rest ◽  
Serum Acth

A 33-year-old male with a history of left testis Leydig cell tumor (LCT), 3-month status after left radical orchiectomy, presented with a rapidly enlarging (0.6 cm to 3.7 cm) right testicular mass. He underwent a right radical orchiectomy, sections interpreted as showing a similar Leydig cell-like oncocytic proliferation, with a differential diagnosis including metachronous bilateral LCT and metachronous bilateral testicular tumors associated with congenital adrenal hyperplasia (a.k.a. “testicular adrenal rest tumors” (TARTs) and “testicular tumors of the adrenogenital syndrome” (TTAGS)). Additional workup demonstrated a markedly elevated serum adrenocorticotropic hormone (ACTH) and elevated adrenal precursor steroid levels. He was diagnosed with congenital adrenal hyperplasia, 3β-hydroxysteroid dehydrogenase deficiency (3BHSD) type, and started on treatment. Metachronous bilateral testicular masses in adults should prompt consideration of adult presentation of CAH. Since all untreated CAH patients are expected to have elevated serum ACTH, formal exclusion of CAH prior to surgical resection of a testicular Leydig-like proliferation could be accomplished by screening for elevated serum ACTH.

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

2015 ◽  
Vol 100 (3) ◽  
pp. E524-E530 ◽  
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.

Ovarian adrenal rest tumour in a patient with chronically untreated congenital adrenal hyperplasia (CAH)

BJUI ◽  
2011 ◽  
Author(s):  
Adamantios M. Mellis ◽  
Blake W. Palmer ◽  
Amy B. Wisniewski ◽  
Gennady Slobodov
Keyword(s):  
Congenital Adrenal Hyperplasia ◽  
Adrenal Hyperplasia ◽  
Adrenal Rest

scholarly journals The role of imaging in congenital adrenal hyperplasia

2014 ◽  
Vol 58 (7) ◽  
pp. 701-708 ◽  
Author(s):  
Sara Reis Teixeira ◽  
Paula Condé Lamparelli Elias ◽  
Marco Túlio Soares Andrade ◽  
Andrea Farias Melo ◽  
Jorge Elias Junior
Keyword(s):  
Congenital Adrenal Hyperplasia ◽  
Adrenal Tumors ◽  
Adrenal Hyperplasia ◽  
Salt Wasting ◽  
Testicular Adrenal Rest Tumors ◽  
High Incidence ◽  
Adrenal Rest ◽  
Hormonal Evaluation

Congenital adrenal hyperplasia (CAH) is an autossomic recessive disorder caused by impaired steroidogenesis. Patients with CAH may present adrenal insufficiency with or without salt-wasting, as well as various degrees of virilization and fertility impairment, carrying a high incidence of testicular adrenal rest tumors and increased incidence of adrenal tumors. The diagnosis of CAH is made based on the adrenocortical profile hormonal evaluation and genotyping, in selected cases. Follow-up is mainly based on hormonal and clinical evaluation. Utility of imaging in this clinical setting may be helpful for the diagnosis, management, and follow-up of the patients, although recommendations according to most guidelines are weak when present. Thus, the authors aimed to conduct a narrative synthesis of how imaging can help in the management of patients with CAH, especially focused on genitography, ultrasonography, computed tomography, and magnetic resonance imaging.

Ovarian carcinoma in a 14-year-old with classical salt-wasting congenital adrenal hyperplasia and bilateral adrenalectomy

2015 ◽  
Vol 28 (5-6) ◽  
Author(s):  
Christian Pina ◽  
Ahmed Khattab ◽  
Philip Katzman ◽  
Lauren Bruckner ◽  
Jeffrey Andolina ◽  
...  
Keyword(s):  
Congenital Adrenal Hyperplasia ◽  
Ovarian Carcinoma ◽  
Left Ovary ◽  
Bilateral Adrenalectomy ◽  
Ca 125 ◽  
Adrenal Hyperplasia ◽  
Serous Adenocarcinoma ◽  
Adrenal Tissue ◽  
Ovarian Serous Adenocarcinoma ◽  
21 Hydroxylase Deficiency

AbstractA 14-year-old female with classical congenital adrenal hyperplasia because of 21-hydroxylase deficiency underwent bilateral adrenalectomy at 6 years of age as a result of poor hormonal control. Because the patient was adrenalectomized, extra adrenal androgen production was suspected. Imaging studies including pelvic ultrasound and pelvic magnetic resonance imaging (MRI) were obtained to evaluate for adrenal rest tumors of the ovaries. Abdominal MRI was obtained to evaluate for residual adrenal tissue. A cystic lesion arising from her right ovary suspicious for ovarian neoplasm was noted on pelvic MRI. Right salpingo-oophorectomy was performed and histopathological examination revealed ovarian serous adenocarcinoma, low-grade, and well-differentiated. Tumor marker CA-125 was elevated and additional ovarian cancer staging workup confirmed stage IIIC due to one lymph node positive for carcinoma. The patient then developed a large left ovarian cyst, which led to a complete total abdominal hysterectomy and removal of the left ovary and fallopian tube. Pathology confirmed ovarian serous adenocarcinoma with microscopic focus of carcinoma in the left ovary. After numerous complications, the patient responded well to chemotherapy, CA-125 levels fell and no evidence of carcinoma was observed on subsequent imaging. To our knowledge, this is the first reported case of an ovarian serous adenocarcinoma in a patient with CAH. Although rare, we propose that the ovaries were the origin of androgen production and not residual adrenal tissue. The relationship between CAH and ovarian carcinomas has yet to be established, but further evaluation is needed given the poor survival rate of high-grade serous ovarian carcinoma.

UP-2.054: Testicular Adrenal Rest Tumor in Infertile Patient with Congenital Adrenal Hyperplasia

Urology ◽  
2009 ◽  
Vol 74 (4) ◽  
pp. S248-S249
Author(s):  
G. Marchini ◽  
B. Wagner ◽  
F. Ortega ◽  
M. Cocuzza ◽  
M. Srougi ◽  
...  
Keyword(s):  
Congenital Adrenal Hyperplasia ◽  
Adrenal Hyperplasia ◽  
Infertile Patient ◽  
Adrenal Rest Tumor ◽  
Adrenal Rest ◽  
Testicular Adrenal Rest
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