Giant Bilateral Adrenal Myelolipomas in a Non-Compliant Patient with Congenital Adrenal Hyperplasia.

BACKGROUND 21-hydroxylase deficiency, an essential enzyme for glucocorticoid and mineralocorticoid synthesis, is the cause of congenital adrenal hyperplasia (CAH) in more than 95% of cases. It is an autosomal recessive disorder encoded by the CYP21A2 gene, categorized into classical forms, which encompass the salt-wasting (SW) and simple virilizing (SV) forms, as well as the nonclassical form (NC). The aim of medical treatment is to replace missing glucocorticoids and, if necessary, mineralocorticoids, while also reducing elevated adrenal androgens. CASE REPORT We present the case of a 42-year-old woman with CAH who discontinued therapy during adolescence and was admitted to hospital with fatigue, nausea, and severe abdominal pain. A CT scan showed an extreme enlargement of the adrenal glands. Laboratory tests revealed elevated levels of 17-hydroxyprogesterone and other adrenal androgens, along with normal plasma metanephrine levels. Decreased morning cortisol levels suggested partial adrenal insufficiency requiring glucocorticoid replacement therapy. Due to the development of several serious complications and clinical deterioration, the multidisciplinary team recommended bilateral removal of masses measuring 300×250×200 mm on the right side and 250×200×200 mm on the left side. Histological and immunochemical examination confirmed the presence of giant myelolipomas with adrenal cortex hyperplasia. CONCLUSIONS Adrenal tumors, particularly myelolipomas, have a higher prevalence in patients with CAH. Our case report provides further evidence of the suspected link between non-compliant CAH therapy and the development of myelolipomas, along with promotion of their pronounced growth.

Evidence of the Role of Inflammation and the Hormonal Environment in the Pathogenesis of Adrenal Myelolipomas in Congenital Adrenal Hyperplasia.

Adrenal myelolipomas (AML) are composed of mature adipose and hematopoietic components. They represent approximately 3 percent of adrenal tumors and are commonly found in patients with congenital adrenal hyperplasia (CAH). CAH provides a unique environment to explore AML pathogenesis. We aimed to evaluate the role of the immune system and hormones that accumulate in poorly controlled CAH in the development of AML. When compared to normal adrenal tissue, CAH-affected adrenal tissue and myelolipomas showed an increased expression of inflammatory cells (CD68, IL2Rbeta), stem cells (CD117) B cells (IRF4), and adipogenic markers (aP2/FABP4, AdipoQ, PPARγ, Leptin, CideA), and immunostaining showed nodular lymphocytic accumulation. Immunohistochemistry staining revealed a higher density of inflammatory cells (CD20, CD3, CD68) in CAH compared to non-CAH myelolipomas. In vitro RNA-sequencing studies using NCI-H295R adrenocortical cells with exogenous exposure to ACTH, testosterone, and 17-hydroxyprogesterone hormones, showed the differential expression of genes involved in cell cycle progression, phosphorylation, and tumorigenesis. Migration of B-lymphocytes was initiated after the hormonal treatment of adrenocortical cells using the Boyden chamber chemotaxis assay, indicating a possible hormonal influence on triggering inflammation and the development of myelolipomas. These findings demonstrate the important role of inflammation and the hormonal milieu in the development of AML in CAH.

Bilateral giant adrenal myelolipoma associated with congenital adrenal hyperplasia / Mielolipoma adrenal gigante bilateral associado a hiperplasia adrenal congênita

Adrenal myelolipomas are rare benign tumors, often non-functioning, located in the adrenal cortex, consisting mainly of mature adipose tissue and hematopoietic tissue. Although uncommon, the number of reported cases has increased due to the greater use of diagnostic imaging techniques. This tumor is usually unilateral and found as an adrenal incidentaloma, although there is a predominance of bilaterality in patients with congenital adrenal hyperplasia (CAH). In this study, we report the case of a 33-year-old male patient with CAH due to 21-hydroxylase deficiency, in non-regular use of the control medication, with bilateral giant adrenal myelolipoma and subsequent evolution of bilateral testicular adrenal rest tumors. He underwent bilateral adrenalectomy by video laparoscopy. The anatomopathological analysis, which confirmed myelolipomas' diagnosis, revealed the right adrenal with 430 g and 12.5 x 9.3 cm and the left with 257 g and 11.5 x 10.4 cm. This tumor may be accompanied by adrenocortical adenoma and carcinoma, ganglioneuroma, pheochromocytoma, Addison's disease, Cushing's syndrome, or CAH. Among the hypotheses of its pathogenesis, we highlight an association between the development of adrenal myelolipoma and chronic hormonal stimulation by the adrenocorticotrophic hormone (ACTH), especially in CAH. The non-regular treatment of CAH with glucocorticoids may have contributed to the chronic and elevated secretion of ACTH and, consequently, to the development of bilateral giant adrenal myelolipoma (AU).

Mielolipomas adrenais são tumores benignos raros, com frequência não-funcionantes, localizados no córtex da adrenal, constituídos, principalmente, por tecido adiposo maduro e tecido hematopoético. Apesar de incomum, o número de casos relatados tem aumentado devido ao maior uso de técnicas diagnósticas de imagens. Esse tumor é geralmente unilateral e encontrado como um incidentaloma adrenal, embora haja predominância de bilateralidade em casos de portadores de hiperplasia adrenal congênita (HAC). Neste estudo, relatamos o caso de um paciente do sexo masculino, de 33 anos, portador de HAC por deficiência de 21-hidroxilase, em uso não-regular da medicação de controle, com mielolipoma adrenal gigante bilateral e posterior evolução de tumor bilateral testicular de restos de adrenais. Ele foi submetido à adrenalectomia bilateral por videolaparoscopia. A análise anátomo-patológica, que confirmou o diagnóstico de mielolipomas, revelou adrenal direita com 430 g e 12,5 x 9,3 cm, e esquerda com 257 g e 11,5 x 10,4 cm. Esse tumor pode vir acompanhado de adenoma e carcinoma adrenocortical, glanglioneuroma, feocromocitoma, doença de Addison, Síndrome de Cushing ou HAC. Dentre as hipóteses de sua patogênese, des-tacamos uma associação entre o desenvolvimento do mielolipoma adrenal e a estimulação hormonal crônica pelo hormônio adrenocorticotrófico (ACTH), especialmente na HAC. O tratamento não-regular da HAC com glicocorticoides pode ter contribuído para a secreção crônica e elevada de ACTH e, consequentemente, para o desenvolvimento do mielolipoma adrenal gigante bilateral (AU).

Bronchoscopic treatment of multiple bronchial myelolipomas: a case report and literature review.

BACKGROUND: Extra-adrenal myelolipoma is an unusual entity, and endobronchial myelolipoma is rarer, which is often ignored by clinicians, delaying the disease and affecting the prognosis. CASE PRESENTATION: A 71-year-old man with a history of chronic obstructive pulmonary disease (COPD) and type 2 diabetes mellitus, with recurrent fever, cough, and expectoration for more than 2 weeks experienced relief in cough, phlegm reduction, and glycemic control with anti-inflammatory treatment. Further examination revealed that new growths obstructing all lobar bronchi impaired flexible bronchoscope entry. In order to relieve the patient's symptoms, under general anesthesia, we performed liquid nitrogen cryobiopsy at multiple bronchial openings, and then used argon plasma coagulation (APC) to achieve hemostasis. The pathological diagnosis was bronchial myelolipoma. The largest volume of the resected tissue was a mass measuring 0.6 cm × 0.4 cm × 0.3 cm at the bronchial opening of the upper lobe of the left lung. The patient's condition was stable and the symptoms were partially relieved after surgery. No recurrence was observed during the 12-month follow-up, although the long-term treatment efficacy is unknown. CONCLUSION: Pathological biopsy is key to the diagnosis of endobronchial myelolipoma, and the development of the endobronchial myelolipomas may have been associated with long-term poor control of steroid levels in this patient.

Simultaneous adrenal and retroperitoneal myelolipoma resected by laparoscopic surgery: a challenging case.

BACKGROUND: Myelolipoma is a benign neoplasm of the adrenal cortex, composed of fat and hematopoietic cells. Although myelolipoma is benign, differentiation from adrenocortical cancer may be difficult. The presence of adrenal and extra-adrenal myelolipomas simultaneously is sporadic, making it a challenging case, especially when the preoperative diagnosis is ambiguous. CASE PRESENTATION: A 65-year-old man was referred to our clinic due to a mass in the adrenal fossa. In the abdominopelvic computed tomography (CT), a well-circumscribed fat-containing 78 × 61 × 65 mm bi-lobulated mass was reported in the left adrenal fossa. The first differential diagnosis was myelolipoma. The patient was then referred to our clinic for a mass excision. He was asymptomatic and was scheduled to undergo laparoscopic-assisted adrenalectomy. After adrenalectomy and mass dissection, surprisingly, another mass was detected in the retroperitoneal area. The second mass was also dissected. The final diagnosis was myelolipoma for both masses. The patient has been symptom-free for nine months after the operation. CONCLUSION: Simultaneous adrenal and extra-adrenal myelolipoma should be considered as one of the differential diagnoses. However, because this situation is extremely rare, the probability of malignancy should be highly regarded, and we suggest an obsessive approach when approaching this condition. It is essential to manage these cases on a case-by-case basis and tailor the management concerning intraoperative biopsy, the intraoperative appearance of tumors, and the location of extra-adrenal masses.

[Primary mediastinal myelolipoma]. / Mielolipoma primario mediastinal.

Myelolipoma is a benign non-functional tumor. Most of them are asymptomatic and discovered incidentally, either through imaging studies or at autopsy. While it most commonly occurs in the adrenal gland, it has also been reported at extra-adrenal sites. We present the case of a 65-year-old woman with a primary mediastinal myelolipoma. Computer tomographic scan of the thorax showed an ovoid tumor with well-defined borders of 6.5 × 4.2 cm, located in the posterior mediastinum. A transthoracic biopsy of the lesion was made, and the microscopic observation revealed hematopoietic cells and mature adipose tissue. Although computed tomography and magnetic resonance imaging are effective in diagnosing mediastinal myelolipoma, histopathological examination is essential for the definitive diagnosis.

El mielolipoma es un tumor benigno no funcional, la mayoría de ellos son asintomáticos y descubiertos de forma incidental a través de estudios de imagen o en estudios de autopsia. Aun cuando la mayoría de los casos se presenta en la glándula suprarrenal, también se han informado en sitios extra-adrenales. Presentamos el caso de una mujer de 65 años de edad con un mielolipoma primario mediastinal. La tomografía computarizada de tórax mostró un tumor ovoide de bordes bien definidos de 6.5 × 4.2 cm, localizado en el mediastino posterior. Se realizó biopsia transtorácica de la lesión y el estudio microscópico reveló elementos hematopoyéticos y tejido adiposo maduro. Aun cuando los estudios de imagen como la tomografía computarizada y la resonancia magnética son efectivos en el diagnóstico del mielolipoma primario mediastinal, la evaluación histopatológica es esencial para el diagnóstico definitivo.

Can 3-Phase Computed Tomography Urography Be Used to Characterize Adrenal Nodules? Results in 145 Patients.

OBJECTIVE: The aim of the study is to determine whether computed tomography (CT) urography (CTU) can characterize incidental adrenal nodules. METHODS: This retrospective cohort study was performed at an academic medical center. Patients were identified by free text search of CTU reports that contained the terms "adrenal mass" "adrenal nodule" and "adrenal lesion." Computed tomography urography technique consisted of unenhanced images and postcontrast images obtained at 100 seconds and 15 minutes. The final cohort included 145 patients with 151 adrenal nodules. Nodules were considered lipid-rich adenomas or myelolipomas based on unenhanced imaging characteristics. Absolute and relative washout values were calculated for the remaining nodules, using a cutoff of 60% and 40%, respectively, to diagnose adenomas. Reference standard for lipid-poor adenomas and malignant nodules was histopathology or imaging/clinical follow-up. Mann-Whitney U test was used for comparison of continuous variables, and Fisher exact test was used for categorical variables. RESULTS: One hundred nodules were lipid-rich adenomas and 3 were myelolipomas. Forty-eight nodules were indeterminate at unenhanced CT, corresponding to 39 lipid-poor adenomas and 9 malignant nodules based on reference standards. Both absolute and relative washout correctly characterized 71% of nodules (34/48), with a sensitivity of 67% and specificity of 89%. Overall, 91% of all adrenal nodules (137/151) were correctly characterized by CTU alone. Lipid-poor adenomas were smaller than malignant nodules ( P < 0.01) and were lower in attenuation on unenhanced and delayed images ( P < 0.01). CONCLUSIONS: Adrenal nodules detected at 3-phase CTU can be accurately characterized, potentially eliminating the need for subsequent adrenal protocol CT or magnetic resonance imaging.

Meta-analysis of reported presacral myelolipomas, including a report of a new case.

BACKGROUND: Presacral myelolipomas form a rare disease and are often found incidentally in imaging diagnostics. CASE PRESENTATION: In this study, we report the case of a 71-year-old caucasian female with an incidental finding of a retroperitoneal tumor on magnetic resonance imaging scan. This report aimed at presenting the clinical course of this patient with emphasis on analysis of pathological, clinical, and epidemiological features in a meta-analysis of reported cases. CONCLUSION: Presacral myelolipomas are rare and its etiology remains unclear. Surgical resection is indicated in symptomatic lesions and lesions > 4 cm. More clinical and pathological research on this rare entity is warranted.

A Two-in-One Tumor in the Adrenal: A Functional Adrenocortical Adenoma with Myelolipomatous Differentiation.

BACKGROUND: Adrenocortical adenoma (ADA) and myelolipoma are two common benign neoplasms of the adrenal cortex that have been reported to occur together. CASE REPORT: A 14-year-old girl presented with the features of ACTH-independent endogenous Cushing syndrome. Abdominal CECT revealed a left adrenal 2.3 × 1.8 × 1.5 cm arterially enhancing nodular lesion with central hypodensity. Histologically, this was an ADA with oncocytic change and myelolipomatous differentiation/metaplasia. DISCUSSION/CONCLUSION: ADA with myelolipomatous differentiation/metaplasia can occur in the pediatric age group.

Spinal myelolipoma - an extremely rare pathology within the lumbar spine: a case report and literature review.

Myelolipoma is a benign tumor containing mature adipose cells and a combination of myeloid and erythroid elements. This tumor is typically found in the adrenal glands; however, it has been detected outside the adrenal glands in rare cases. We report an extremely rare case of myelolipoma in the lumbar spine causing significant neural compression due to the involvement of the posterior spinal elements. Given the significant neurological deficit, the patient was surgically managed as soon as possible. Extra-adrenal myelolipomas are rare lesions, and only one case has been reported in the spine so far. However, this diagnosis should be considered in cases with its characteristic imaging features.

Giant adrenal myelolipoma in a young male double heterozygous for HbS and beta-thalassemia trait, clinically simulating retroperitoneal sarcoma.

ABSTRACT: A 57-year-old male had abdominal pain and distension for 6-7 months with a palpable swelling in the right lumbar region. Contrast-enhanced computed tomography abdomen showed a large heterogeneous lesion with fat density measuring 22 cm ´ 16.5 cm in the right suprarenal region. Laparotomy was done which showed an encapsulated mass measuring 21 cm ´ 14 cm ´ 5 cm. Cut section revealed yellowish areas admixed with hemorrhage and large areas of necrosis. Microscopy revealed adrenal myelolipoma. The patient was found to have sickling positive. High-performance liquid chromatography showed double heterozygous for HbS and beta-thalassemia trait. The association of giant adrenal myelolipoma with double heterozygous for HbS and beta-thalassemia trait is rare, and as clinically it simulates retroperitoneal sarcoma, awareness of this rare entity is critical for its accurate diagnosis and proper management.

[Primary Myelolipoma of the Posterior Mediastinum:Report of a Case].

The patient was a 66-year-old male. Computed tomography( CT) scan revealed a tumor of the posterior mediastinum 2 years before and grew slowly 49.0 to 51.4 mm in the longest diameter of the coronal slice. Thoracoscopic surgery was performed to resect it. The pathological examination revealed a predominantly mature adipose tissue with hematopoietic tissue in hematoxylin and eosin( HE) staining and the hematopoietic tissue was comprised of mature erythroblasts, megakaryocytes, and granulocytes in immune staining, which diagnosed it as myelolipoma. Incidence of myelolipoma which originates from besides adrenal glands is reported 0.08 to 0.2%. As far as we can search, 40 cases of myelolipoma of the posterior mediastinum are in the literatures.

Bilateral giant adrenal myelolipoma: A rare scenario.

Adrenal myelolipoma is a benign tumor-like growth, composed of mature fat cells and bone marrow elements. We report a case of a 44-year lady who presented with a complaint of pain in the abdomen. The only positive finding was contrast-enhanced computed tomography (CECT) whole abdomen, which was suggestive of heterogeneously enhancing hypodense lesion of size 130 mm × 105 mm with few calcifications and 103 mm × 75 mm with intralesional fat attenuation in right and left adrenals. Rest laboratory parameters were normal. Only a few cases so far have been reported for bilateral adrenal myelolipoma but what stands out in our case is its giant size and bilaterality, managed surgically without any complications.