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[PMID]: 29339528
[Au] Autor:Engels M; Gehrmann K; Falhammar H; Webb EA; Nordenström A; Sweep FC; Span PN; van Herwaarden AE; Rohayem J; Richter-Unruh A; Bouvattier C; Köhler B; Kortmann BB; Arlt W; Roeleveld N; Reisch N; Stikkelbroeck NMML; Claahsen-van der Grinten HL; dsd-LIFE group
[Ad] Address:Department of PediatricsAmalia Children's Hospital, Radboud University Medical Center, Nijmegen, the Netherlands.
[Ti] Title:Gonadal function in adult male patients with congenital adrenal hyperplasia.
[So] Source:Eur J Endocrinol;178(3):285-294, 2018 Mar.
[Is] ISSN:1479-683X
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:CONTEXT: Current knowledge on gonadal function in congenital adrenal hyperplasia (CAH) is mostly limited to single-center/country studies enrolling small patient numbers. Overall data indicate that gonadal function can be compromised in men with CAH. OBJECTIVE: To determine gonadal function in men with CAH within the European 'dsd-LIFE' cohort. DESIGN: Cross-sectional clinical outcome study, including retrospective data from medical records. METHODS: Fourteen academic hospitals included 121 men with CAH aged 16-68 years. Main outcome measures were serum hormone concentrations, semen parameters and imaging data of the testes. RESULTS: At the time of assessment, 14/69 patients had a serum testosterone concentration below the reference range; 7 of those were hypogonadotropic, 6 normogonadotropic and 1 hypergonadotropic. In contrast, among the patients with normal serum testosterone (55/69), 4 were hypogonadotropic, 44 normogonadotropic and 7 hypergonadotropic. The association of decreased testosterone with reduced gonadotropin concentrations (odds ratio (OR) = 12.8 (2.9-57.3)) was weaker than the association between serum androstenedione/testosterone ratio ≥1 and reduced gonadotropin concentrations (OR = 39.3 (2.1-732.4)). Evaluation of sperm quality revealed decreased sperm concentrations (15/39), motility (13/37) and abnormal morphology (4/28). Testicular adrenal rest tumor (TART)s were present in 39/80 patients, with a higher prevalence in patients with the most severe genotype (14/18) and in patients with increased current 17-hydroxyprogesterone 20/35) or androstenedione (12/18) serum concentrations. Forty-three children were fathered by 26/113 patients. CONCLUSIONS: Men with CAH have a high risk of developing hypothalamic-pituitary-gonadal disturbances and spermatogenic abnormalities. Regular assessment of endocrine gonadal function and imaging for TART development are recommended, in addition to measures for fertility protection.
[Mh] MeSH terms primary: Adrenal Hyperplasia, Congenital/blood
Androstenedione/blood
Gonadotropins/blood
Hypogonadism/blood
Testosterone/blood
[Mh] MeSH terms secundary: Adolescent
Adrenal Hyperplasia, Congenital/complications
Adrenal Hyperplasia, Congenital/epidemiology
Adrenal Rest Tumor/blood
Adrenal Rest Tumor/epidemiology
Adult
Aged
Cross-Sectional Studies
Europe/epidemiology
Humans
Hydroxyprogesterones/blood
Hypogonadism/complications
Male
Middle Aged
Odds Ratio
Oligospermia/complications
Prevalence
Semen Analysis
Sperm Count
Sperm Motility
Testicular Neoplasms/blood
Testicular Neoplasms/epidemiology
Young Adult
[Pt] Publication type:JOURNAL ARTICLE
[Nm] Name of substance:0 (Gonadotropins); 0 (Hydroxyprogesterones); 3XMK78S47O (Testosterone); 409J2J96VR (Androstenedione)
[Em] Entry month:1802
[Cu] Class update date: 180220
[Lr] Last revision date:180220
[Js] Journal subset:IM
[Da] Date of entry for processing:180118
[St] Status:MEDLINE
[do] DOI:10.1530/EJE-17-0862

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[PMID]: 29330018
[Au] Autor:Chaudhari M; Johnson EK; DaJusta D; Nahata L
[Ad] Address:Division of Endocrinology, Department of Pediatrics, Nationwide Children's Hospital, The Ohio State University College of Medicine, Columbus, OH, USA. Electronic address: Monika.Chaudhari@nationwidechildrens.org.
[Ti] Title:Testicular adrenal rest tumor screening and fertility counseling among males with congenital adrenal hyperplasia.
[So] Source:J Pediatr Urol;, 2017 Dec 21.
[Is] ISSN:1873-4898
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:BACKGROUND: Reduced fertility is a common potential problem among males with congenital adrenal hyperplasia (CAH), with nearly half experiencing impaired sperm production. The major cause of oligo/azoospermia in CAH is testicular adrenal rest tumors (TARTs). Studies indicate that ultrasound screening for TARTs should begin during childhood, yet it remains unclear whether boys with CAH are routinely screened for TARTs and/or counseled about infertility risk and potential interventions such as fertility testing and/or preservation. OBJECTIVE: The purpose of this study was to examine TART screening and fertility counseling practices among boys with CAH. STUDY DESIGN: An IRB-approved retrospective chart review was conducted of all males with ICD-9/10 codes for CAH (2007-2016) at a large pediatric academic center to examine: age and indication for diagnosis; age at first and last documented pediatric endocrinology and urology visit; history of ultrasound examinations; and documentation of fertility counseling. RESULTS: Forty-six patients were included, of whom 38 had 21-hydroxylase deficiency. Median age at diagnosis was 2 weeks (range 7 days-10 years). Median age at the most recent pediatric endocrinology clinic visit was 14 years (range 2-42 years). Twenty-nine patients were >11 years old (63% of the sample) at the time of the study and 14 of these were >18 years old (30% of the sample). Seven patients (15%) had a screening ultrasound at some point in their care, of whom three had TARTs. Fertility was mentioned in the records of six subjects (13% of the sample). Six of the subjects (13%) had any mention of fertility in their records. None of the patients had biochemical testing or semen analysis to assess gonadal function, and none were offered fertility preservation. Only one patient was seen by a pediatric urologist. DISCUSSION: Despite the limitations of a single-center retrospective design, our findings highlight that TART screening and fertility counseling remain underutilized in boys with CAH. There is a need for increased awareness and development of practice guidelines within pediatric urology and endocrinology to address this common and understudied problem. CONCLUSION: In addition to a screening ultrasound in puberty and consideration of semen analysis after puberty, these boys may benefit from seeing a pediatric urologist independently or in an interdisciplinary program. Boys with CAH and their families should be educated about infertility risk and potential interventions, with the goal of improving reproductive outcomes in this population.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1801
[Cu] Class update date: 180113
[Lr] Last revision date:180113
[St] Status:Publisher

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[PMID]: 29250678
[Au] Autor:Badila E; Weiss AE; Bartos D; Dumitrache EL; Tataranu LG; Ciubotaru GV; Neagu TP; Enache V; Popa VB; Japie C
[Ad] Address:Department of Plastic Surgery and Reconstructive Microsurgery, Emergency Clinical Hospital of Bucharest, Romania; dr.neagupaul@gmail.com.
[Ti] Title:Mass effect: a plethora of symptoms caused by an otherwise benign transitional pituitary meningioma. Case report.
[So] Source:Rom J Morphol Embryol;58(3):983-988, 2017.
[Is] ISSN:1220-0522
[Cp] Country of publication:Romania
[La] Language:eng
[Ab] Abstract:Meningiomas are among the most commonly encountered tumors of the central nervous system, being more frequent in females. We present the case of a dyslipidemic male patient, previously diagnosed with coronary artery disease for which he previously underwent percutaneous coronary intervention with the placement of two bare metal stents on the left anterior descending artery. He was presented to the emergency department for atypical angina and a seven-day history of dizziness when switching from clino- to orthostatism, reduced visual acuity, diplopia and vomiting. Electrocardiogram (ECG), both at rest and exercise test were suggestive for myocardial ischemia. Echocardiography revealed myocardial hypokinesia in the territory of the right coronary artery and of the left descending artery, while coronarography showed insignificant intra-stent stenosis. Imaging techniques revealed a frontobasal extraneuraxial mass, creating a compressive effect on both middle cerebral arteries and on the optic chiasm as well as thickening of the dura mater adjacent to the mass. Endocrinology blood tests showed hypocortisolemia, hyperprolactinemia and low levels of free thyroxine (fT4), suggesting secondary combined pituitary hormone deficiency. The patient underwent surgery and total resection of the tumor was performed. Definite diagnosis - transitional meningioma - was obtained through histological examination and immunohistochemistry. The key feature of this case was the extra-cardiac cause of angina accompanied by ECG abnormalities in a patient with stable coronary heart disease, in whom the clinical presentation was secondary to blood pressure variations in the context of pituitary and adrenal deficiency.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1712
[Cu] Class update date: 171218
[Lr] Last revision date:171218
[St] Status:In-Process

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[PMID]: 28948824
[Au] Autor:Bílek R; Zelinka T; Vlcek P; Dusková J; Michalský D; Novák K; Václavíková E; Widimský J
[Ad] Address:Institute of Endocrinology, Prague, Czech Republic. rbilek@endo.cz.
[Ti] Title:Radioimmunoassay of chromogranin A and free metanephrines in diagnosis of pheochromocytoma.
[So] Source:Physiol Res;66(Supplementum 3):S397-S408, 2017 Sep 26.
[Is] ISSN:1802-9973
[Cp] Country of publication:Czech Republic
[La] Language:eng
[Ab] Abstract:This work discusses the clinical performance of chromogranin A, free metanephrine and normetanephrine determination in plasma using a radioimmunoanalytical methods for the diagnosis of pheochromocytoma and paraganglioma. Blood samples were collected from 55 patients (46 pheochromocytomas, 9 paragangliomas). A sampling of biological materials was performed preoperatively and about one week, six months and one year after adrenal gland surgery. The comparative group without a diagnosis of pheochromocytoma/paraganglioma consisted of 36 pheochromocytoma/paraganglioma patients more than 4 months after adrenal gland surgery, and of 87 patients, 16 of them with multiple endocrine neoplasia, 9 with medullary and 5 with parafolicullar carcinoma of the thyroid gland. The rest were patients with various adrenal gland disorders. Chromogranin A, metanephrine and normetanephrine were determined in the EDTA-plasma using a radioimmunoassay kits Cisbio Bioassays, France and IBL International GmbH, Germany. Clinical sensitivity was 96 % for the combination of metanephrine and normetanephrine, and 93 % for chromogranin A. Clinical specificity was 100 % for the combination metanephrine and normetanephrine, and 96 % for chromogranin A. Falsely elevated levels of chromogranin A were observed in 1 patient with chronic renal insufficiency and 9 analyses were influenced by the administration of proton pump inhibitors. These results were excluded of CGA specificity. Both the combination of plasma free metanephrine, normetanephrine and chromogranin A as determined by radioimmunoassays, which are simple without the necessity of special laboratory material, are effective markers of pheochromocytoma or paraganglioma. Chromogranin A exerts association to malignity and all markers are associated with tumor mass.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1709
[Cu] Class update date: 170926
[Lr] Last revision date:170926
[St] Status:In-Process

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[PMID]: 28930625
[Au] Autor:Chew KT; Abu MA; Arifuddin Y; Mohamed Ismail NA; Nasir NAM; Mohammed F; Nur Azurah AG
[Ad] Address:.
[Ti] Title:Ectopic adrenal tissue associated with borderline mucinous cystadenoma of ovary: a case report with review of the literature.
[So] Source:Horm Mol Biol Clin Investig;, 2017 Sep 20.
[Is] ISSN:1868-1891
[Cp] Country of publication:Germany
[La] Language:eng
[Ab] Abstract:Ectopic adrenal tissue in the ovary is a rare entity. We reported a case of ectopic adrenal tissue in borderline mucinous cystadenoma of the left ovary. A 22 year-old student presented with progressive abdomen distension associated with discomfort for 3 months. Imaging investigation was suggestive of mucinous left ovarian cyst. Left salpingo-oophorectomy was performed and the histopathology revealed borderline mucinous cystadenoma with an incidental finding of ectopic adrenal tissue. This is an interesting case because of its rarity and potential risk of neoplasm changes.
[Pt] Publication type:CASE REPORTS
[Em] Entry month:1709
[Cu] Class update date: 170920
[Lr] Last revision date:170920
[St] Status:Publisher

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[PMID]: 28879515
[Au] Autor:Dumic M; Duspara V; Grubic Z; Oguic SK; Skrabic V; Kusec V
[Ad] Address:Department of Pediatrics, Clinical Hospital Centre Zagreb, University of Zagreb Medical School, Kispaticeva 12, 10000, Zagreb, Croatia. drdumic@gmail.com.
[Ti] Title:Testicular adrenal rest tumors in congenital adrenal hyperplasia-cross-sectional study of 51 Croatian male patients.
[So] Source:Eur J Pediatr;176(10):1393-1404, 2017 Oct.
[Is] ISSN:1432-1076
[Cp] Country of publication:Germany
[La] Language:eng
[Ab] Abstract:Testicular adrenal rest tumors (TARTs) are common cause of infertility in males with congenital adrenal hyperplasia (CAH). We studied the role of genotype and disease regulation on TART development, their impact on gonadal function, and frequency in 47 21-hydroxylase deficiency (21-OHD) and four 11-hydroxylase deficiency (11-OHD) male patients. Testicular ultrasound (TU), genotype, hormonal measurement in 51, and spermiogram in five patients were performed. TARTs were detected in 14 SW21-OHD and one 11-OHD patient: 1/8 patients aged <7 years (1.8 years old is the youngest), 1/8 patients aged <12 years, 5/17 patients aged <18 years, and in 8/18 adults. All 21-OHD TART patients had exclusively severe mutations of CYP21A2 gene. Poor hormonal control in 8/15 patients with and 12/36 patients without TART indicates correlation of tumor development with poor disease control. None of the TART patients fathered a child. Low inhibin-B was found in 7/15 TART patients. Azoospermia was found in four and oligoasthenozoospermia in one patient. CONCLUSION: TART was detected exclusively in patients with severe CYP21A2 mutations. Disease regulation plays a role in development of TART that impairs testicular function and increases the risk of infertility. Screening for TART by TU is indicated from early childhood. What is Known: • Due to improved diagnostic and therapeutic possibilities, majority of the male patients with congenital adrenal hyperplasia nowadays reach adulthood and screening for long-term complications is becoming more important. • Testicular adrenal rest tumors (TARTs) are common cause of infertility and impaired gonadal function in males with CAH. What is New: • A 1.8-year-old boy described in this paper is the youngest reported patient with TART. • Screening for TART by testicular ultrasound from early childhood, especially in patients with severe CYP21A mutations, is recommended.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1709
[Cu] Class update date: 171117
[Lr] Last revision date:171117
[St] Status:In-Process
[do] DOI:10.1007/s00431-017-3008-7

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[PMID]: 28835760
[Au] Autor:Ohana Marques Coelho de Carvalho L; Miguel Garcia Lora R; Renata Rezende Penna C; Calland Ricarte Beserra I
[Ad] Address:Postgraduate Student of Federal University of Rio de Janeiro, Brazil.
[Ti] Title:Testicular Adrenal Rests Tumors and Testicular Microlithiasis in a Brazilian Case Series with Classic Congenital Adrenal Hyperplasia.
[So] Source:Int J Endocrinol Metab;15(1):e40611, 2017 Jan.
[Is] ISSN:1726-913X
[Cp] Country of publication:Iran
[La] Language:eng
[Ab] Abstract:BACKGROUND: Testicular adrenal rest tumors are a benign condition characterized by the presence of remnants of adrenal tissue within the testes that can lead to infertility. Testicular microlithiasis are calculus deposits within the seminiferous tubules. Both are described in congenital adrenal hyperplasia. OBJECTIVES: Describe the frequency of testicular adrenal rest tumors and testicular microlithiasis in a Brazilian case series of patients with classic congenital adrenal hyperplasia and to also relate these changes to disease control and hypothalamic-pituitary-gonadal axis disorders. METHODS: Case series study. An ultrasound examination of the scrotum was performed on 12 patients between the ages of 5.33 to 22 (14.72 ± 5.26) years. Testicular adrenal rest tumors were classified according to the degree of testicular infiltration in stages by adapting the Grinten's classification, ranging from the absence of testicular adrenal rests visible by ultrasound (stage ≤ 1) to chronic obstruction of the testicular parenchyma with irreversible damage of the testicle (stage 5). RESULTS: Six patients (5 salt wasting and 1 simple virilizing) with an average age of 17.27 ± 3.09 years and have gone through puberty showed testicular adrenal rest tumors (Grinten stage ≥ 3). In 2 of the patients there was a coincidence with testicular microlithiasis. The frequency of testicular adrenal rest tumors did not relate with the levels of serum 17-hydroxyprogesterone and androstenedione. In 3 patients with testicular adrenal rest tumors, gonadotropin levels were suggestive of hypergonadotropic hypogonadism and one of hypogonadotropic hypogonadism. CONCLUSIONS: Testicular adrenal rest tumors were found in greater frequency during puberty and was not related to hormonal control in this group. Some of them happened with testicular microlithiasis.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1708
[Cu] Class update date: 170828
[Lr] Last revision date:170828
[St] Status:PubMed-not-MEDLINE
[do] DOI:10.5812/ijem.40611

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[PMID]: 28706747
[Au] Autor:Enjoji M; Sanada K; Seki R; Ito T; Maeda M
[Ad] Address:Department of Surgery, Mishima General Hospital, 2276 Yata, Mishima, Shizuoka 411-0801, Japan.
[Ti] Title:Adrenal Rest Tumor of the Liver Preoperatively Diagnosed as Hepatocellular Carcinoma.
[So] Source:Case Rep Surg;2017:8231943, 2017.
[Is] ISSN:2090-6900
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract: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. We performed a subsegmental resection of the liver. 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.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1707
[Cu] Class update date: 170717
[Lr] Last revision date:170717
[St] Status:PubMed-not-MEDLINE
[do] DOI:10.1155/2017/8231943

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[PMID]: 28676275
[Au] Autor:Ozisik H; Yurekli BS; Simsir IY; Altun I; Soyaltin U; Guler E; Onay H; Sarsik B; Saygili F
[Ad] Address:Ege University, Faculty of Medicine, Department of Endocrinology and Metabolism Diseases, Turkey. Electronic address: drhaticege@hotmail.com.
[Ti] Title:Testicular Adrenal Rest Tumor (TART) in congenital adrenal hyperplasia.
[So] Source:Eur J Med Genet;60(9):489-493, 2017 Sep.
[Is] ISSN:1878-0849
[Cp] Country of publication:Netherlands
[La] Language:eng
[Ab] Abstract:Congenital adrenal hyperplasia is one of the most common autosomal recessive genetic disorders. Testicular adrenal tumors are significant complications of congenital adrenal hyperplasia. We would like to present two patients of testicular adrenal rest tumors. Patient 1 24 year-old male, he was diagnosed with congenital adrenal hyperplasia at the age of 8 due to precocious puberty. He received hydro-cortisone treatment until the age of 18. Testicular mass had been detected and right radical orchiectomy had been applied 6 months ago and reported as testicular adrenal rest tumor. In scrotal ultrasound, a mixed type mass lesion (6 × 4x3 cm) covering a large part of left testis was observed. The imaging findings were consistent with adrenal rest tumor. The patient took adrenocorticotropic hormone supressive therapy with dexamethasone 0.75 mg once a day. Patient 2, 38 year-old male, he had been followed-up as adrenal insufficiency for 35 years. He underwent right orchiectomy operation due to the testicular mass in 2010 and the pathological examination revealed Leydig cell tumor. In scrotal ultrasound, small multifocal lesions were detected on the left testis and resection was done. It was reported as testicular adrenal rest tumor. He is being followed-up with glucocorticoid treatment according to androgen and adrenocorticotropic hormone levels. Early diagnosis of testicular adrenal rest tumor is significant in preventing irreversible testicular damage and infertility. In the differential diagnosis, we should keep in mind that testicular adrenal rest tumor can mimic other testicular tumors such as primary germ cell tumors.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1707
[Cu] Class update date: 170804
[Lr] Last revision date:170804
[St] Status:In-Process

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[PMID]: 28549629
[Au] Autor:Naouar S; Braiek S; El Kamel R
[Ad] Address:Ibn El Jazzar teaching hospital, Les Aghlabides surgical division, urology department, 3100 Kairouan, Tunisia. Electronic address: snaouar@laposte.net.
[Ti] Title:Testicular tumors of adrenogenital syndrome: From physiopathology to therapy.
[So] Source:Presse Med;46(6 Pt 1):572-578, 2017 Jun.
[Is] ISSN:2213-0276
[Cp] Country of publication:France
[La] Language:eng
[Ab] Abstract:Testicular tumor of adrenogenital syndrome is a rare and benign anomaly usually presenting as bilateral testicular masses. It is the most important cause of infertility in adult male congenital adrenal hyperplasia. Distinction between testicular tumors of adrenogenital syndrome and Leydig cell tumors can be problematic; it is based on clinical, histopathologic, immunohistochemical and endocrine features. Biopsy is advised in cases of longstanding tumors in infertile patients and when surgery is indicated. Fertility preservation is a key management goal in testicular tumor of adrenogenital syndrome. In stages 2 and 3, intensified glucocorticoid treatment is recommended as a first step treatment. Sparing surgical approach is preferred for tumors of stage 4 and steroid unresponsive masses. Magnetic resonance imaging is recommended before surgery. The only indication of surgery in stage 5 is testicular pain.
[Mh] MeSH terms primary: Adrenogenital Syndrome/physiopathology
Adrenogenital Syndrome/therapy
Testicular Neoplasms/physiopathology
Testicular Neoplasms/therapy
[Mh] MeSH terms secundary: Adrenal Rest Tumor/diagnosis
Adrenal Rest Tumor/pathology
Adrenal Rest Tumor/physiopathology
Adrenal Rest Tumor/therapy
Adrenocorticotropic Hormone/blood
Adrenogenital Syndrome/diagnosis
Adrenogenital Syndrome/pathology
Adult
Diagnosis, Differential
Glucocorticoids/therapeutic use
Humans
Leydig Cell Tumor/diagnosis
Leydig Cell Tumor/pathology
Leydig Cell Tumor/physiopathology
Leydig Cell Tumor/therapy
Magnetic Resonance Imaging
Male
Testicular Neoplasms/diagnosis
Testicular Neoplasms/pathology
Testis/pathology
Testis/physiopathology
[Pt] Publication type:JOURNAL ARTICLE; REVIEW
[Nm] Name of substance:0 (Glucocorticoids); 9002-60-2 (Adrenocorticotropic Hormone)
[Em] Entry month:1708
[Cu] Class update date: 170817
[Lr] Last revision date:170817
[Js] Journal subset:IM
[Da] Date of entry for processing:170528
[St] Status:MEDLINE


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