Two case reports of bilateral adrenal myelolipomas

Primary adrenal myelolipoma is a rare, non-functioning adrenal benign tumor that is composed of mature adipose tissue and a variable amount of haemopoietic elements. Clinically, it is difficult to get diagnosed with adrenal myelolipoma because the patient usually doesn't have obvious symptoms and signs in early stage. In the present study, two cases of primary bilateral adrenal myelolipomas are reported. Clinical presentation, imaging diagnostic features, histopathological changes and surgical treatments of the two patients are discussed. Preoperative diagnostic imaging examinations(B-mode ultrasonography, computed tomography and magnetic resonance imaging sans) assisted getting a prediction diagnosis of bilateral adrenal myelolipomas. A two-stage surgery was used to successfully excise bilateral adrenal myelolipomas in the two patients. Conventional open adrenalectomy was applied to remove the adrenal myelolipomas greater than 6 cm, and laparoscopic adrenalectomy was performed to excise the adrenal tumors smaller than 6 cm. Bilateral adrenal myelolipomas of the two patients were finally confirmed by postoperative histopathological examinations. Understanding clinical, imaging diagnostic and histopathological features of bilateral adrenal myelolipomas will facilitate timely diagnosis and treatment of this condition. Surgical removal of bilateral adrenal myelolipomas is safe, curative and beneficial.The two-stage surgery appears to be the best treatment option for the patients with bilateral adrenal myelolipomas because it achieves optimal treatment effectiveness with minimized sequelae.     

Giant adrenal myelolipomas: CT and MRI findings

The computed tomographic (CT) and magnetic resonance imaging (MRI) features of three giant myelolipomas of the adrenal gland are presented in two patients. CT demonstrates large, fatty retroperitoneal tumors that may be confused with retroperitoneal liposarcoma or very large renal angiomyolipoma. MRI with coronal and sagittal imaging is more sensitive than CT in defining the most likely origin of these tumors as the adrenal gland.     

Congenital adrenal hyperplasia: not really a zebra

Congenital adrenal hyperplasia was once considered a rare inherited disorder with severe manifestations. Mild congenital adrenal hyperplasia, however, is common, affecting one in 100 to 1,000 persons in the United States and frequently eluding diagnosis. Both classic and nonclassic forms of the disease are caused by deficiencies in the adrenal enzymes that are used to synthesize glucocorticoids. The net result is increased production from the adrenal gland of cortisol precursors and androgens. Even mild congenital adrenal hyperplasia can result in life-threatening sinus or pulmonary infections, orthostatic syncope, shortened stature and severe acne. Women with mild congenital adrenal hyperplasia often present with hirsutism, oligomenorrhea or infertility. Congenital adrenal hyperplasia is diagnosed by demonstration of excess cortisol precursors in the serum during an adrenal corticotropic hormone challenge. Diagnosis of congenital adrenal hyerplasia in fetuses that are at risk for congenital adrenal hyperplasia can be determined using human leukocyte antigen haplotype or by demonstration of excess cortisol precursors in amniotic fluid. Treatment includes carefully monitored hormone replacement therapy. Recognition of the problem and timely replacement therapy can reduce morbidity and enhance quality of life in patients that are affected by congenital adrenal hyperplasia.     

3．0T磁共振扩散加权成像对肾上腺原发肿瘤的诊断价值

目的评估3．0TMR扩散加权成像（DWI）及ADC值对肾上腺原发肿瘤的诊断价值。方法回顾性分析48例经手术病理证实的肾上腺原发肿瘤患者的术前DWI图像,用Mann—Whitneyu法对不同病理类型肿瘤的ADC值进行统计学比较,并采用受试者工作特征曲线（ROC）分析。结果肾上腺神经节细胞瘤（5例）、（良性）嗜铬细胞瘤（7例,其中1例为双侧）、皮质腺瘤（21例）、原发恶性肿瘤（包括7例皮质癌及1例恶性嗜铬细胞瘤）及髓脂肪瘤（7例）的ADC值依次为：（1．948±0．357）×10^-3mm2／s）、（1．666±0．547）×10^-3mm2／s、（1．434±0．430）×10^-3mm2／s、（0．951±0．144）×10^-3mm2／s及（0．764±0．209）×10^-3mm2／s。除外髓脂肪瘤,以ADC值≤1．08×10。mm。／s为阂值,诊断肾上腺原发恶性肿瘤的特异度为87．50％、灵敏度为85．29％、准确率为85．71％。肾上腺原发恶性肿瘤与神经节细胞瘤、嗜铬细胞瘤及皮质腺瘤ADC值之间差异均有统计学意义（尸值分别为0．003、O．006及0．001）,。肾上腺原发恶性肿瘤与髓脂肪瘤ADC值之间差异无统计学意义。结论 3.0TMR扩散加权成像可应用于。肾上腺原发良、恶性肿瘤的诊断,而ADC值能够对不同病理类型肿瘤的鉴别提供有价值的信息。     

Primary aldosteronism: diagnosis and treatment

The syndrome of primary aldosteronism produces few signs or symptoms. The diagnosis should be suspected when either spontaneous hypokalemia or easily provoked hypokalemia is found in a patient with hypertension. Hypokalemia in association with inappropriate kaliuresis, low plasma renin activity, and a high plasma aldosterone concentration/plasma renin activity ratio are the findings on initial screening tests that should suggest primary aldosteronism. The diagnosis must be confirmed by demonstrating nonsuppressible aldosterone excretion in conjunction with normal cortisol excretion. The choice of therapy is based on distinguishing unilateral from bilateral adrenal disease. With a unilateral adrenal adenoma, surgical removal reverses the hypokalemia and frequently cures the hypertension. In most patients with bilateral adrenal hyperplasia who are treated surgically, however, hypertension persists; thus, the initial treatment in these patients should be pharmacologic.     

Testicular adrenal rest tissue in a patient with classical congenital adrenal hyperplasia: color Doppler findings

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.     

Diffuse stromal Leydig cell hyperplasia: a unique cause of postmenopausal hyperandrogenism and virilization

A 60-year-old woman presented with diffuse scalp alopecia, hirsutism, and clitorimegaly, and the mean serum testosterone levels were greater than 200 ng/dL. Findings on computed tomography of both adrenal glands were normal. After bilateral oophorectomy, a unique histological picture consisting of diffuse stromal Leydig cell hyperplasia was found. Reinke crystals were present, but neither hilus cell hyperplasia nor stromal hyperthecosis was noted. Sequencing of the 11 exons of the gene for the luteinizing hormone receptor revealed no abnormality. Relevant data suggest that treatment of the postmenopausal woman with hyperandrogenism and virilization is bilateral laparoscopic oophorectomy if she has no pronounced ovarian enlargement or adrenal tumor on imaging. In this setting, an intensive endocrine evaluation or a search for metastatic disease seems to be unnecessary.     

Demonstration of steroid-producing gonadal tumors by external scanning with the use of NP-59.

Bilateral testicular Leydig cell tumors in a patient with Nelson's syndrome and a Leydig cell tumor of the ovary in a woman with a virilizing syndrome were successfully imaged with [6beta-131I]iodomethyl-19-norcholest-5(10)-en-3beta-ol (NP-59). Uptake by these tumors was comparable to uptake by adrenal glands in patients with funtioning adrenal tumors or bilateral hyperplasia. Scanning the gonads with NP-59 may be a helpful imaging procedure in localizing possible sites for exploratory surgery in certain cases of gonadal neoplasia.     

Normal and abnormal regulation of β-MSH in man

The regulation of plasma beta-melanocyte-stimulating hormone (beta-MSH) in man has been studied utilizing a radioimmunoassay previously described (1). In normal subjects plasma beta-MSH values ranged from 20 to 110 pg/ml. Metyrapone increased and dexamethasone decreased plasma beta-MSH levels. Surgical stress stimulated beta-MSH secretion. Plasma beta-MSH levels were elevated in patients with untreated Addison's disease and untreated congenital adrenal hyperplasia, and these levels fell to normal during glucocorticoid therapy. In patients with Cushing's syndrome due to pituitary adrenocorticotropic hormone (ACTH) excess, plasma beta-MSH was slightly elevated before treatment. In those patients who developed pituitary tumors and hyperpigmentation after bilateral adrenalectomy, plasma beta-MSH was greatly elevated. In patients with Cushing's syndrome due to adrenal tumor, plasma beta-MSH was subnormal. In patients with the ectopic ACTH syndrome, the levels of plasma beta-MSH were high. Plasma beta-MSH had a diurnal variation in normal subjects, patients with Addison's disease, and patients with congenital adrenal hyperplasia; but the normal diurnal variation was lost in patients with Cushing's disease. In patients with high plasma beta-MSH, simultaneous determinations of plasma ACTH showed close correlation between the degree of elevation of ACTH and that of beta-MSH. In extracts of tumors from patients with the ectopic ACTH-MSH syndrome the quantities of the two hormones were roughly equivalent. In patients with hyperpigmentation due to a variety of disorders other than pituitary-adrenal abnormalities, plasma beta-MSH was normal. It is concluded that the secretion of beta-MSH is regulated by the same factors that regulate ACTH.     

Spontaneous rupture of adrenal myelolipoma as a cause of acute flank pain: A case report

BACKGROUNDAdrenal myelolipoma is a rare, benign, non-functioning mass that occurs in the adrenal gland. It is composed of an admixture of hematopoietic elements and mature adipose tissue, similar to bone marrow. Even at large sizes, adrenal myelolipomas are usually asymptomatic and often incidentally found by ultrasonography or computed tomography (CT) scan. This paper describes an unusual case of adrenal myelolipoma presenting as flank pain.CASE SUMMARYA 50-year-old male with severe right flank pain underwent a CT scan revealing a huge mass extending into the suprarenal space. The mass showed a fat component with retroperitoneal hemorrhage. The tumor was treated laparoscopically, and pathologic examination revealed features of myelolipoma originating from the adrenal gland.CONCLUSIONAdrenal myelolipomas are generally asymptomatic and can be treated conservatively. However, rupture and hemorrhage of the tumor can cause symptoms requiring surgical removal.     

儿童睾丸肾上腺残基瘤的超声诊断价值

目的探讨儿童睾丸肾上腺残基瘤(TART)的临床及超声表现,加深临床及超声医师对本病的认识。方法回顾分析先天性肾上腺皮质增生症(CAH)男性患儿中经手术病理及临床确诊的11例TART的临床资料、超声表现、实验室检查与影像学检查结果。结果 11例患儿中,5例睾丸体积正常(占45.45%),6例睾丸体积增大(54.55%);其中10例TART为双侧睾丸发病,1例单侧发病;10例双侧发病的患儿中,2例患儿每个睾丸内均有2个病灶,共25个病灶。25个病灶均位于睾丸门和(或)睾丸纵隔旁,呈均匀等低回声,边界均清晰,未见明显包膜回声;其中16个(占64%)直径>10mm的病灶形状不规则,呈长条形分叶状,9个(占36%)直径<10mm的病灶呈类圆形或者椭圆形;直径>5mm的病灶血流信号多较丰富,直径<5mm病灶则血流信号较少,部分仅见点条状血流信号。结论儿童TART多为双侧发病,超声具有特征性声像图表现,超声检查在CAH诊断及定期随访中具有重要意义。     

肾上腺静脉取血术在非促肾上腺皮质激素依赖性库欣综合征并双肾上腺占位诊断中的应用

目的　　研究肾上腺静脉插管取血术在非促肾上腺皮质激素（adrenocorticotropic hormone, ACTH）依赖性库欣综合征合并双侧肾上腺占位患者中的诊断价值。方法　　回顾性分析北京协和医院诊治的4例非ACTH依赖性库欣综合征合并双侧肾上腺占位患者的临床资料。空腹状态下取外周静脉及双侧肾上腺静脉血，分别测定血浆总皮质醇及醛固酮水平，分别计算双侧肾上腺静脉与外周静脉血皮质醇的比值及双侧肾上腺静脉的血皮质醇与醛固酮的比值比。 结果　　4例经肾上腺静脉插管取血后计算出双侧肾上腺静脉的血皮质醇与醛固酮的比值比平均为8.4（3.6~16.2），其中3例为单侧分泌皮质醇的高功能肾上腺腺瘤所致的显性库欣综合征，对侧腺瘤则为无功能皮质腺瘤；1例为单侧高功能肾上腺腺瘤所致的亚临床库欣综合征，对侧则为肾上腺结节样增生。定位明确后行单侧肾上腺及腺瘤切除术，病情均缓解，平均随访36个月（6~75个月）均无复发。 结论　　成功的肾上腺静脉取血可以帮助判断非ACTH依赖性库欣综合征合并双侧肾上腺占位的功能状态，对指导下一步治疗措施有重要的诊断价值，而成功的关键在于肾上腺静脉置管到位和排除内源性干扰因素。     

Imaging and Differential Diagnosis of Suprarenal Masses in the Fetus

Prenatal sonography and magnetic resonance imaging of suprarenal fetal masses is presented, along with clinical information and follow‐up. Imaging pearls and differential considerations for each diagnosis will be discussed. Fetal suprarenal mass diagnoses include neuroblastoma, extralobar pulmonary sequestration, congenital adrenal hyperplasia, partial multicystic dysplastic kidney, renal duplication, urinoma, gastric duplication cyst, and splenic cyst. Recognizing the range of malignant and benign suprarenal fetal masses that can present on prenatal imaging can help guide patient counseling and management.     

Spontaneous rupture of adrenal myelolipoma: spiral CT appearance

We report the helical computed tomographic findings of a symptomatic giant (11 cm) adrenal myelolipoma with spontaneous extracapsular hemorrhage. Narrow collimation (3 mm) imaging and three-dimensional reconstructions were useful to fully characterize the components and location of the lesion. A literature search showed a striking male and right-sided predominance for spontaneously hemorrhagic myelolipomas. Received: 19 October 1999/Accepted: 15 December 1999     

Normal genes for the cholesterol side chain cleavage enzyme, P450scc, in congenital lipoid adrenal hyperplasia.

Congenital lipoid adrenal hyperplasia is the most severe form of congenital adrenal hyperplasia. Affected individuals can synthesize no steroid hormones, and hence are all phenotypic females with a severe salt-losing syndrome that is fatal if not treated in early infancy. All previous studies have suggested that the disorder is in the cholesterol side chain cleavage enzyme (P450scc), which converts cholesterol to pregnenolone. A newborn patient was diagnosed by the lack of significant concentrations of adrenal or gonadal steroids either before or after stimulation with corticotropin (ACTH) or gonadotropin (hCG). The P450scc gene in this patient and in a previously described patient were grossly intact, as evidenced by Southern blotting patterns. Enzymatic (polymerase chain reaction) amplification and sequencing of the coding regions of their P450scc genes showed these were identical to the previously cloned human P450scc cDNA and gene sequences. Undetected compound heterozygosity was ruled out in the new patient by sequencing P450scc cDNA enzymatically amplified from gonadal RNA. Northern blots of gonadal RNA from this patient contained normal sized mRNAs for P450scc and also for adrenodoxin reductase, adrenodoxin, sterol carrier protein 2, endozepine, and GRP-78 (the precursor to steroidogenesis activator peptide). These studies show that lipoid CAH is not caused by lesions in the P450scc gene, and suggest that another unidentified factor is required for the conversion of cholesterol to pregnenolone, and is disordered in congenital lipoid adrenal hyperplasia.     

双层探测器光谱CT碘密度值对不同功能状态下肾上腺的评估

目的 探讨双层探测器光谱CT碘密度定量对肾上腺不同功能状态的评估价值.方法 2018年6月～2020年8月间于我院完成肾上腺光谱CT增强扫描的检查者中,按照不同的肾上腺功能状态收集病例,分为三组:感染性休克(双侧肾上腺肿大)26例(A组);肾上腺增生(双侧或左侧)14例(B组);右侧功能性肾上腺皮质醇腺瘤(左侧肾上腺反...     

Adrenogenital syndrome: unusual presentation in an adult

A case of bilateral testicular tumors thought secondary to hyperplastic adrenal rest tissue in an adult with the adrenogenital syndrome is presented. The appropriate endocrinologic diagnosis of 21-hydroxylase deficiency was made by extensive hormonal assay of serum and urine. Pathologic investigation suggested Leydig cell hyperplasia or tumor, but clinical and laboratory response to steroid therapy indicated elaboration of androgens from adrenal or adrenal rest sources. We believe initial medical therapy is justified in these particular cases.     

Congenital adrenal hyperplasia: molecular genetics and alternative approaches to treatment.

Several autosomal recessive disorders affecting the adrenal cortex and its development and leading to defective cortisol biosynthesis are known under the collective term "congenital adrenal hyperplasia" (CAH). Over the last two decades, the genes causing most of these disorders have been identified and molecular genetics may supplement their clinical and biochemical diagnosis. In addition, new treatments have emerged; although gene therapy has yet to be applied in humans, studies are ongoing in gene transfer in adrenocortical cell lines and animal models. In this review, after a brief introduction on the developmental biology and biochemistry of the adrenal cortex and its enzymes, we will list the new developments in the genetics and treatment of diseases causing CAH, starting with the most recent findings. This order happens to follow adrenal steroidogenesis from the mitochondrial entry of cholesterol to cortisol synthesis; it is unlike other presentations of CAH syndromes that start with the most frequently seen syndromes, because the latter were also the first to be investigated at the genetic level and have been extensively reviewed elsewhere. We will start with the latest syndrome to be molecularly investigated, congenital lipoid adrenal hyperplasia (CLAH), which is caused by mutations in the gene coding for the steroidogenic acute regulatory (StAR) protein. We will then present new developments in the genetics of 3-beta-hydroxysteroid dehydrogenase (3 beta HSD), 17 hydroxylase and 17,20-lyase (P450c17), 11 hydroxylase (P450c11 beta), and 21 hydroxylase (P450c21) deficiencies. Alternative treatment approaches and gene therapy experiments are reviewed collectively in the last section, because they are still in their infantile stages.     

Ultrasound findings in the adreno-genital syndrome (congenital adrenal hyperplasia)

The adreno-genital syndrome (congenital adrenal hyperplasia) is caused by deficiency of an enzyme (usually C-21 hydroxylase) necessary for adrenal production of cortisol, which results in excessive accumulation of androgenic precursors. It is the most common cause of female pseudohermaphroditism. There have been a few sporadic reports of ultrasonic demonstration of enlarged adrenals in the adreno-genital syndrome. To determine whether ultrasonography could be used to establish or exclude the diagnosis, ultrasonic examinations were performed on eight newborn infants with ambiguous genitalia who were subsequently proven to have the adreno-genital syndrome. The adrenals were found to be enlarged in three patients, at the upper limit of normal in three patients, and in two infants the adrenals were well within normal limits in size. The uterus was identified in seven of the eight patients, but was not seen for technical reasons in one. It is concluded that ultrasound is useful in the evaluation of infants with congenital adrenal hyperplasia to establish the presence of a uterus and to demonstrate enlargement of the adrenals, but it should be cautioned that finding adrenals of normal size does not exclude the diagnosis. Key words ultrasound, adreno-genital syndrome, congenital adrenal hyperplasia.     

Uptake ratio of (19-1311) cholesterol by adrenal glands as observed by a scintigraphic method.

The adrenal scintigram was performed after administration of [19-131I] cholesterol. A high/low ratio of both adrenal glands was calculated to evaluate whether there is a difference between the left and right sides in adrenal diseases. During scanning, information was stored in a 64 X 64 matrix and then punched out on a computer compatible paper tape. This paper tape was processed with a small digital computer. The areas of interest were selected over adrenal glands. The computer decided mean counts per unit area. After subtraction of background counts, a high/low ratio of adrenal gland was calculated. In five patients with Cushing's syndrome due to bilateral hyperplasia, a high/low ratio ranged from 1.0 to 2.0. In four patients with primary aldosteronism due to adenoma, a high/low ratio ranged from 1.33 to 4.0. This method may be useful to differentiate bilateral hyperplasia from unilateral adrenocortical adenoma.