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Introduction Solid testis tumors in post-pubertal males usually represent germ cell malignancies; however, other uncommon or rare histologies must be considered. Case presentation We present a case of an 18-year-old male undergoing attempted bilateral partial orchiectomies for suspected germ cell tumors. Tumor pathology, laboratory results, radiographic studies, and post-surgical elevated adrenocorticotropic hormone levels supported the diagnosis of testicular adrenal rest tumors secondary to previously undiagnosed nonclassical congenital adrenal hyperplasia. Conclusion Testicular adrenal rest tumors are rare in patients with nonclassical congenital adrenal hyperplasia and may be accompanied by adrenal insufficiency and hypogonadism, which can be treated with glucocorticoid therapy and testosterone replacement. Differential diagnosis of tumors is challenging but necessary for proper symptom-based management.

Background: Testicular adrenal rest tumors (TARTs) are benign neoplasms affecting patients with congenital adrenal hyperplasia (CAH). The prevalence of TART in adult patients with CAH is not well known. Ultrasonography (US) is the main tool for diagnosing TART and the role of contrast-enhanced US (CEUS) is never investigated. The aim of this study was to evaluate the TART prevalence in adults with CAH, by stratifying patients according to disease phenotype and assessing the diagnostic performance of US, color Doppler (CD) US and CEUS. Methods: Male patients >16 years old with certain diagnosis of CAH who underwent US for TARTs, between December 2015 and September 2019 were prospectively enrolled. The control group included patients without CAH affected by testicular lesions at US other than TARTs. Results: TARTs were identified in 16 of 52 patients (31%), of whom 15 (93.8%) displayed the salt-wasting (SW) form (P

Abstract We present a case of untreated Congenital adrenal hyperplasia presenting with bilateral giant Adrenal myelolipoma and Testicular adrenal rest cells. Methods We discuss clinical presentation diagnostic evaluation and subsequent management and follow up of CAH with TART's. Results Our patient was not adherent to Glucorticoid and mineralocorticoid treatments between age 18 to 47 and presented with back pain most likely resulting from Bilateral giant adrenal myelolipoma. Interestingly he did not require any stress steroids during this time. His adrenal myelolipoma progressively increased in size. Comparison CT is available from 2004 to 2020. Testicular adrenal rest cells and possibly infertility also resulted from uncontrolled CAH for a long period of time. Conclusion This case demonstrates the significance of CAH treatment compliance and highlights sequela and management of untreated CAH.

INTRODUCTIONTesticular adrenal rest tumors (TART) are a known consequence for males with classical congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency. TART are associated with potential infertility in adults. However, little is known about TART in very young males with CAH.OBJECTIVEWe assessed the prevalence of TART in newborn, infant, and toddler males with classical CAH via scrotal ultrasound.METHODSMales with CAH had scrotal ultrasounds during the first 4 years of life, evaluating testes for morphology, blood flow, and presence of TART. Newborn screen 17-hydroxyprogesterone (17-OHP) and serum 17-OHP at the time of ultrasound were recorded. Bone ages were considered very advanced if ≥ 2SD above chronological age.RESULTSThirty-one ultrasounds in 16 males were performed. An initial ultrasound was obtained in four newborns at diagnosis (6.8 ±2.1 days), six infants (2.2 ±0.9 months), and six toddlers (2.4 ±0.9 years). Eleven males had at least one repeat ultrasound. A large proportion (11/16) were in poor hormonal control with an elevated 17-OHP (325 ±298 nmol/L). One infant was in very poor hormonal control (17-OHP 447 nmol/L) at initial ultrasound, and two toddlers had advanced bone ages (+3.2 and +4.5 SD) representing exposure to postnatal androgens. However, no TART were detected in any subjects.CONCLUSIONSTART were not found in males up to 4 years of age with classical CAH despite settings with expected high ACTH drive. Further research into the occurrence of TART in CAH may elucidate factors which contribute to the detection and individual predisposition to TART.

Objectives To assess the incidence of testicular adrenal rest tumors (TARTs) among male children with congenital adrenal hyperplasia (CAH) in tertiary care centers. Methods All male children aged 1–14 years diagnosed with CAH due to 21-hydroxylase deficiency (21 HOD), 11β-hydroxylase deficiency, and 3β-hydroxysteroid dehydrogenase deficiency, confirmed by biochemical and/or genetic testing, underwent scrotal ultrasound examination to identify TARTs. After receiving the diagnosed patients’ data, patients’ electronic medical records were accessed to collect demographic data and scrotal ultrasound results, along with growth parameters and specific biochemical test results within 2 months of the ultrasound. Results TARTs were observed in 5 (10.9%) of 46 male children with CAH. Four patients with positive findings had 21 HOD classical CAH with salt loss and one had 21 HOD simple virilizing classical CAH. All patients had poor compliance and stage 2 bilateral TARTs. Three TART-positive patients (60.0%) had high ACTH levels, 5 patients (100%) had elevated 17-OHP levels, and 5 patients (100%) had advanced bone age. The youngest patient with positive findings was 4 years old. Conclusions The prevalence of TARTs increases with age and can be present in young males with classical CAH with 21 HOD. It is associated with elevated 17-hydroxyprogesterone (17-OHP) and advanced bone age SDS. TARTs are less likely to be associated with nonclassical CAH with 21 HOD or other less common CAHs due to 11β-hydroxylase deficiencies and 3β-hydroxysteroid dehydrogenase deficiencies in children. Our study recommends early and routine screening of TARTs in children with CAH.

Testicular Adrenal Rest Tumors, also known as Testicular Tumors of the Androgenital Syndrome, are benign tumors found in the testes of patients with congenital adrenal hyperplasia. While considered benign, they are significant in that they can proliferate within the rete testis and cause infertility. We present a patient who appeared to have findings consistent with testicular adrenal rest tumors and is in the process of malignancy rule out.

INTRODUCTION: Testicular adrenal rest tumors (TARTs) are the main etiology of infertility in congenital adrenal hyperplasia (CAH). The aim of this study is to determine the patients diagnosed with TART and to evaluate the risk factors associated with the development of the disease. METHODS: Clinical characteristics of 31 patients with CAH including 19 male, and 12 female patients who were followed up in our clinic were retrospectively reviewed regarding the presence of TART. Differences between clinical and laboratory findings of patients with and without TART were examined. Six male patients with TART were included in the study. Clinical characteristics such as pubertal stage, treatment doses, laboratory findings were evaluated. Changes in size of TARTs were examined with ultrasound follow-ups at six month- intervals. RESULTS: The prevalence of TARTs was 31.5 % (6/19 male). Precocious puberty was higher in patients with TART than without TART. The mean age of the patients was 9.1±2.4 (range: 5.2-12.4) years at the time of diagnosis with TART. Five patients with TART were inadequately controlled. Four patients had a history of precocious puberty. Tumor progression was detected in 4 of 6 patients. In three patients with tumor progression, serum 17-hydroxy progesterone (17-OHP) values increased during follow-up, probably due to non-compliance with treatment. DISCUSSION AND CONCLUSION: Scrotal ultrasound monitoring should be performed in all male patients with CAH in early childhood irrespective of disease control.

Hepatic adrenal rest include ectopic adrenal tissue in the liver and adrenohepatic fusion. Long-lasting hyperstimulation of that tissue induces hyperplasia sometimes simulating true tumors. True autonomic tumors originating from ectopic adrenal tissue with or without hyperfunction are rare. Hepatic adrenal rest sometimes has similar imaging findings to lipid-rich hepatocellular carcinoma or angiomyolipoma, containing obvious lipid component. But in our cases, tumors showed hypervascular patterns similar to hepatocellular adenoma or carcinoma. Therefore, adrenocortical scintigraphy with SPECT/CT should be taken into consideration to diagnose tumoral lesions in the posterior segment of the right hepatic lobe with or without an obvious lipid component.

21-hydroxylase deficiency is a rare kind of autosomal recessive disorders, which can result in congenital adrenal hyperplasia and/or testicular adrenal rest tumors. 21-hydroxylase deficiency with TARTs is prone to be misdiagnosed as Leydig cell tumors. Although the sonographic characteristics of TARTs have been summarized in previous reports, its features in computed tomography images were rarely reported. In this study, we presented and summarized the clinical and imaging data of a special case suffering this disease, aiming to improve the imaging diagnosis performance.

Background: Patients with NNT (Nicotinamide Nucleotide Transhydrogenase) gene mutations, a rare cause of glucocorticoid and mineralocorticoid deficiency require hormone replacement therapy. Adrenal Rest Tumor (ART) in females is very rare ( Clinical presentation and Method: A 15-year-old girl, with homozygous G200S NNT-mutation that caused adrenal insufficiency reappeared to follow-up after several years with severe virilization and elevated serum testosterone (28.3 nmol/l) and ACTH (> 1500 pmol/l) levels. Pelvic MRI and Ultrasound demonstrated one sided para-ovarian round tumor with pathological vascularization. Laparoscopic exploration revealed bilateral para-ovarian mesosalpinx masses involving the serosa of the Fallopian tube (3 and 1 cm in diameter); the testosterone level normalized within one day after removal of those masses (0.2 nmol/l). Results: Histopathology demonstrated a pattern of adrenal rest tissue with strong intracellular positive staining for adrenal markers such as SF-1, calretinin, MART1, inhibin and the pituitary corticotroph marker-ACTH. The staining for ovarian characteristic markers such as PAX 8 was negative. Studying mRNA extracted from the tissue by RT-PCR revealed the presence of CYP17A1, CYP21A2 and MC2R (ACTH receptor) cDNA confirming typical adrenocortical transcriptional pattern in the tissue. cDNA of POMC was not detected suggesting that in spite of dense ACTH staining the tissue is not classically originated from pituitary corticotrophs. Methylome studies to further characterise the tissue are underway. Conclusion: This study exemplifies severe virilization that resulted from a unique and rare type of ART in ovarian related tissue that was caused by incompliance to treatment in a patient with NNT gene mutation. Given the ubiquitous expression of NNT and its reported pathophysiology as free radicals scavenger in all adrenocortical layers, it is surprising to have high ACTH induced severe virilization in spite of severe NNT dysfunction and adrenal insufficiency. This study may indicate timely testosterone screening in females with NNT mutation and when increased they should probably be laparoscopically surveyed for ART even when not detected by imaging. How NNT mutation damages mineralo and glucocorticoid secreting cells while androgen secreting cells are rescued is a theme for further studies.

We report a case of congenital adrenal hyperplasia in a 29 year old patient, who presented with testicular pain, bilateral testicular masses, and oligospermia. Ultrasonography confirmed, in both testis, the presence of heterogeneous and hypoechoic lesions with irregular borders and internal and peripheral vascularization. Seric tumor markers were negative. The patient was scheduled for perioperative testicular biopsy and bilateral orchiectomy. Perioperative biopsy was suggestive of testicular adrenal rest tumor and not additional procedure was performed. Treatment was initiated with high doses of glucocorticoids, decreasing the size of testicular masses and testicular pain was alleviated.

Case study: This is a 28-year-old male, who was diagnosed since childhood with classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency. He is a product of consanguineous marriage and one of his sister is suffering from the same problem. He was maintained on hydrocortisone tablets twice a day “10 mg and 15 mg”, in addition to fludrocortisone 0.1 mg once daily. His current problem stared since two years. He was not compliant to his medicine, because of depression. Then, he noticed darkening of his skin. Additionally, he was suffering from fatigue and erectile dysfunction as well as primary infertility. Clinically, he was hyperpigmented, and there was a testicular mass felt in each testis. He had an MRI Abdomen which showed the left adrenal gland contained a large lobulated mass filled with macroscopic fat measuring 3.7*2.9 cm and the right adrenal gland had another fat rich lobulated mass of 1.6*1.1 cm. Ultrasound testes revealed bilateral irregular hypoechoic lesion close to the rete testis. The right testicular measured 2.6*0.7 cm and the left one measured 2.6*0.5 cm. Pertaining laboratory results showed ACTH 26.4 pmol/L (1.6 - 13.9), 17-hydroxyprogesterone 855 nmol/L ( 1.8-10.3), the repeated result was 974 nmol/L , FSH

This review provides the reader with current insights on testicular adrenal rest tumors (TARTs), a complication in male patients with congenital adrenal hyperplasia (CAH). In recent studies, an overall TART prevalence of 40% (range, 14% to 89%) in classic patients with CAH is found. Reported differences are mainly caused by the method of detection and the selected patient population. Biochemically, histologically, and molecularly, TARTs exhibit particular adrenal characteristics and were therefore thought to originate from aberrant adrenal cells. More recently, TARTs have been found to also exhibit testicular characteristics. This has led to the hypothesis of pluripotent cells as the origin of TARTs. High concentrations of ACTH could cause hyperplasia of these pluripotent cells, as TARTs appear to be associated with poor hormonal control with concomitant elevated ACTH. Unfortunately, as yet there are no methods to prevent the development of TARTs, nor are there guidelines to treat patients with TARTs. Intensified glucocorticoid treatment could improve fertility status in some cases, although studies report contradicting results. TARTs can also lead to irreversible testicular damage, and therefore semen cryopreservation could be offered to patients with TARTs. Further research should focus on the etiology and pharmacological treatment to prevent TART development or to treat TARTs and improve the fertility status of patients with TARTs.

Adrenal rest tumors (ART) are extra-adrenal findings of adrenal tissue. Testicular adrenal rest tumors (TART) are widespread in males with congenital adrenal hyperplasia (CAH). Ovarian adrenal rest tumours (OART), which form in females with CAH, are less commonly seen. Reports in literature of OART are extemely rare. The case is here presented of a 43-year-old female who was diagnosed at the age of 15 years with CAH and underwent bilateral adrenalectomy at the age of 37. On presentation at our clinic, 4×2 cm mass was determined on the right adnexa in the advanced tests and a right-side salpingo-oopherectomy was performed. The pathology examination reported heterotopic adrenal cortical tissue. Routine ovarian imaging in females with CAH is not indicated. Although OART are rarely seen, they should be kept in mind and these patients should be evaluated radiologically together with laboratory tests.

Background Testicular adrenal rest tumors (TARTs) are found in 30–94% of adult males with congenital adrenal hyperplasia (CAH). We sought to explore TART appearance through yearly ultrasound examination of testes in young boys with CAH, and its association with metabolic control and genetic mutations. Methods Twenty-five boys with 21-hydroxylase deficiency in the age group 4–18 years diagnosed during the period 2001–2016 were included in the study. ACTH, 17-hydroxyprogesterone, androstenedione and testosterone were measured at 4-month intervals. Growth and BMI were assessed at the time of evaluation. PCR/ACRS method was used for CYP21A2 gene analysis. Testicular ultrasound examination was performed yearly. Results TARTs were detected by ultrasound in 8 children at the age of 6–16 years (13.2 years average). Five had salt-wasting form, two had simple virilizing form and one had non-classic form of CAH. Significant differences in the17OHP and androstenedione levels were detected between the boys, adherent and non-adherent to therapy. Inadequate metabolic control was not different in boys with and without TART (11/17 and 5/8 respectively). No significant difference was detected in the distribution of genetic mutations or adherence to therapy between patients with and without TARTs. One patient had a mutation not reported thus far in TART and another developed leukemia. Conclusion TART is not rare in young boys with CAH, irrespective of the specific mutation or metabolic control. Ultrasound screening helps timely diagnosis and adjustment of therapy.

For many radiologists, requests for imaging evaluation of testicular or scrotal symptoms and physical exam findings may cause some degree of uneasiness, for two main reasons: first, the number of tumor entities and tumor-like lesions in the testes and scrotum is relatively large and their histopathologic classification is complex (Table 1) and second, case volume of scrotal studies for non-emergency indications may be relatively low in some centers. In this chapter, we provide basic strategies to extract information from imaging pertinent to some of the most commonly encountered clinical scenarios in the evaluation of the testes and scrotum.

Testicular adrenal rest tumors are commonly seen in congenital adrenal hyperplasia. The tumors are typically bilateral and arise from ACTH dependent aberrant adrenal cells in the testes. Diagnosis is clinically confirmed by ultrasound imaging. These tumors are characterized by their response to steroid replacement and biopsy is not routinely required. Differentiating the tumor from Leydig cell tumor can be difficult. Management and prognosis for these two pathologies are different, so extensive investigations may be required to confirm the diagnosis. We present a 5 year old boy who had an unusual presentation of a testicular tumor and detail the investigations undertaken to differentiate a testicular adrenal rest tumor from a Leydig cell tumor.

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Summary Background The aim of this study was to describe the gray-scale and color Doppler ultrasonography (US) and magnetic resonance (MR) imaging features of testicular adrenal rest tumors (TART) in patients with congenital adrenal hyperplasia. Material/Methods Forty-one patients with congenital adrenal hyperplasia were evaluated by gray-scale and color Doppler ultrasonography. Totally eighteen adrenal rest tumors in 9 patients were diagnosed TART on US and MR imaging. Gray-scale and color Doppler US and MR findings of the patients were documented. Results A total of eighteen masses were evaluated in nine patients. The mean age of these patients was 14.3±4.5 (range 10.1–23.3) years. US revealed hypoechoic lesions around the mediastinum testis with hypervascularity dispersing in ten patients and hypovascularity in two patients. In six patients, the lesions were hyperechoic with poor vascularity. Lesions exhibited homogeneous (n=8) and heterogeneous (n=10). Testicular microlithiasis was present in 4 of 9 patients with TART. Doppler ultrasound showed normal testicular vessels passing through the mass which were undisturbed, not displaced and not change in caliber. MRI features were the following: all lesions were hypointense on T2- and hyperintense (n=12) and isointense (n=6) on T1-weighted images. All masses revealed homogeneous contrast enhancement on postcontrast T1-weighted images. Conclusions Ultrasonography and MRI are good methods for detecting and monitoring TART. US is the first preferable modality because it is quick and cheap than MRI. Bilateral mostly hypoechoic lesions depicted around the mediastinum testis with no mass effect is highly suggestive for the diagnosis of testicular adrenal rest tissues on ultrasonography. Normal testicular vessels coursing through the lesions undisturbed and not change in caliber is described specific for this kind of tumors.

Ectopic adrenal tissue (EAT) was first described by Morgagni in 1740 as yellowish nodules resembling adrenal tissue adjacent to the main glands (Anderson and Ross 1980). Reports of EAT in the liter...

Congenital adrenal hyperplasia (CAH) patients with testicular adrenal rest tumors (TARTs) with testicular enlargement present a serious diagnostic challenge. According to the data TARTs are usually benign. They are rare, resulting in paucity in the medical literature regarding their pathological features. We report a case of bilateral synchronous mass-forming TARTs with marked cytological and nuclear atypia misinterpreted as malignant testicular tumors in a 40-years-old man with CAH and CT and MRI data for pheochromocytoma of the right adrenal gland and paraaortal and paracaval lymphadenomegaly. He was previously diagnosed with adrenal cortical carcinoma of the left adrenal gland.

Congenital adrenal hyperplasia (also known as congenital adrenogenital syndromes) refers to a group of autosomal recessive diseases characterized by altered cortisol production, which may be associated with aldosterone deficiency. The absence of cortisol synthesis stimulates corticotropin production by the adrenal cells and the accumulation of cortisol precursors, which will be diverted for the production of sex hormones. In affected males, ectopic adrenal tissue frequently develops, usually at the testicular level. This tissue is absolutely identical to that of the adrenal gland itself, and its functionality can be stimulated by ACTH and suppressed with glucocorticoid therapy. The authors report the case of a male patient with classic congenital adrenal hyperplasia, who was referred to our staff for evaluation of bilateral testicular tenderness and enlargement. Color Doppler sonography revealed mild enlargement of both gonads, widespread disruption of the testicular echostructure, and hypervascularization. Two months later, when the underlying disease had been controlled, repeat color Doppler ultrasonography revealed markedly decreased vascularity, although no change was noted on the B-mode examination. The color Doppler findings thus represent an early indicator of response to treatment.Le sindromi adrenogenitali congenite sono un gruppo di malattie autosomiche recessive caratterizzate da un’alterata produzione del cortisolo, a cui si può aggiungere un’insufficiente produzione di aldosterone. Il blocco della sintesi del cortisolo porta a stimolazione della corticotropina sulle cellule surrenaliche, con accumulo di precursori del cortisolo, che sono deviati alla biosintesi degli ormoni sessuali. Nei maschi affetti è relativamente frequente lo sviluppo di tessuto surrenalico ectopico, il più delle volte a livello testicolare, tessuto del tutto identico a quello del surrene e la cui funzionalità può essere stimolata dall’ACTH o soppressa dalla terapia con glicocorticoidi. Presentiamo il caso di un paziente affetto da sindrome adrenogenitale congenita che, in seguito a dolenzia e modico aumento di volume dei testicoli, si sottoponeva a ecografia, che evidenziava testicoli modicamente aumentati di volume, con ecostruttura in gran parte sovvertita, ipervascolarizzati. Ben controllata la malattia di base, a distanza di due mesi, veniva effettuato un esame eco color Doppler dei testicoli che non rilevava variazione dell’aspetto in B-mode, mentre la vascolarizzazione era marcatamente diminuita rispetto al controllo precedente. Abbiamo pertanto ritenuto opportuno segnalare quest’aspetto per sottolineare che, come accade per altre terapie, la diminuzione dell’ipervascolarizzazione è precoce rispetto alle variazioni che si osservano con l’esame in B-mode.

International audience; OBJECTIVES: Several cases of testicular adrenal rest tumours have been reported in men with congenital adrenal hyperplasia (CAH) due to the classical form of 21-hydroxylase deficiency but the prevalence has not been established. The aims of this report were to evaluate the frequency of testicular adrenal rest tissue in this population in a retrospective multicentre study involving eight endocrinology centres, and to determine whether treatment or genetic background had an impact on the occurrence of adrenal rest tissue. MATERIAL AND METHODS: Testicular adrenal rest tissue (TART) was sought clinically and with ultrasound examination in forty-five males with CAH due to the classical form of 21-hydroxylase deficiency. When the diagnosis of testicular adrenal rest tumours was sought, good observance of treatment was judged on biological concentrations of 17-hydroxyprogesterone (17OHP), delta4-androstenedione, active renin and testosterone. The results of affected and non-affected subjects were compared. RESULTS: TART was detected in none of the 18 subjects aged 1 to 15years but was detected in 14 of the 27 subjects aged more than 15years. Five patients with an abnormal echography result had no clinical signs. Therapeutic control evaluated at diagnosis of TART seemed less effective when diagnosis was made in patients with adrenal rest tissue compared to TART-free subjects. Various genotypes were observed in patients with or without TART. CONCLUSION: Due to the high prevalence of TART in classical CAH and the delayed clinical diagnosis, testicular ultrasonography must be performed before puberty and thereafter regularly during adulthood even if the clinical examination is normal.

Testicular adrenal rest tumors (TARTs) are benign testicular masses but can lead to infertility without medical attention. It is important to identify TARTs in childhood, as early diagnosis has been shown to have good success in preserving fertility. It is also important to differentiate TARTs from other testicular masses to avoid unnecessary orchiectomy. Ultrasound is the preferred imaging modality for the evaluation of TARTs; however, sonographic differentiation from testicular neoplasms can sometimes be very difficult. In this article, we review the spectrum of sonographic features of TARTs and propose a decision tree that relies on these features, with the goal of increasing clinician’s confidence in diagnosing TARTs.