Мета: оновити клінічні практичні настанови щодо вродженої гіперплазії надниркових залоз унаслідок дефіциту 21-гідроксилази, що були опубліковані Ендокринним Товариством у 2010 році. Висновки: представлені оновлені рекомендації з найкращої практики щодо клінічного управління вродженою гіпер­плазією надниркових залоз на основі опублікованих даних та експертної думки з додатковими міркуваннями щодо безпеки пацієнтів, якості життя, витрат та використання (J. Clin. Endocrinol. Metab. 103: 1—46, 2018).

Вроджена гіперплазія надниркових залоз внаслідок дефіциту 21-гідроксилази. Клінічні практичні настанови Ендокринологічного Товариства. Частина 1

This study of 17 cases describes a homogeneous clinicopathologic group of tumors previously subsumed under the general term, hepatobiliary cystadenoma. This unique group of neoplasms that the authors have termed "cystadenoma with mesenchymal stroma" (CMS), occurred exclusively in women and showed two essential tumor components: a cyst lining of columnar to cuboidal, mucin secreting epithelium; and a moderately to densely cellular stroma composed of spindle (rarely oval) cells. The stromal element appeared similar to primitive mesenchyme, both on light and electron microscopic study, showing variable differentiation toward fibroblasts, smooth muscle, adipose tissue and capillaries. Cases of hepatobiliary "cystadenoma" in the literature with histology similar to CMS had similar sex and age incidences, while histologically dissimilar cases, lacking the mesenchymal stroma, had significantly different parameters. Four cases of CMS in this series showed malignant change that was manifested as papillary adenocarcinoma, suggesting the need for complete surgical removal of these premalignant neoplasms.

Cystadenoma with mesenchymal stroma (CMS) in the liver and bile ducts. A clinicopathologic study of 17 cases, 4 with malignant change.

胰岛素瘤发病率低,年发病率约为0.8～0.9/100万[1].我国1981-1999年底的文献共报告胰岛素瘤1 438例[2].由于发病率很低,临床少见,症状表现多样,易被忽略或误诊.长期低血糖症状反复发作,将导致大脑和神经系统不可逆的营养不良性退行性改变损害.可使病人智力低下,行为异常甚至痴呆、丧失劳动力.因此,提高对胰岛素瘤的认识、及时诊治具有重要意义。

Insulinoma

Human steroid biosynthesis, metabolism and excretion are differentially reflected by serum and urine steroid metabolomes: A comprehensive review.

Proposal of a new nomenclature for budd‐chiari syndrome: Hepatic vein thrombosis versus thrombosis of the inferior vena cava at its hepatic portion

OBJECTIVE To comprehensively characterize androgens and androgen precursors in classic 21-hydroxylase deficiency (21OHD) and to gain insights into the mechanisms of their formation. DESIGN Serum samples were obtained from 38 patients (19 men) with classic 21OHD, aged 3-59, and 38 sex- and age-matched controls; 3 patients with 11β-hydroxylase deficiency; 4 patients with adrenal insufficiency; and 16 patients (8 men) undergoing adrenal vein sampling. Paraffin-embedded normal (n = 5) and 21OHD adrenal tissues (n = 3) were used for immunohistochemical studies. METHODS We measured 11 steroids in all sera by liquid chromatography-tandem mass spectrometry. Immunofluroescence localized 3β-hydroxysteroid dehydrogenase type 2 (HSD3B2) and cytochrome b5 (CYB5A) within the normal and 21OHD adrenals. RESULTS Four 11-oxygenated 19-carbon (11oxC19) steroids were significantly higher in male and female 21OHD patients than in controls: 11β-hydroxyandrostenedione, 11-ketoandrostenedione 11β-hydroxytestosterone, and 11-ketotestosterone (3-4-fold, P < 0.0001). For 21OHD patients, testosterone and 11-ketotestosterone were positively correlated in females, but inversely correlated in males. All 11oxC19 steroids were higher in the adrenal vein than in the inferior vena cava samples from men and women and rose with cosyntropin stimulation. Only trace amounts of 11oxC19 steroids were found in the sera of patients with 11β-hydroxylase deficiency and adrenal insufficiency, confirming their adrenal origin. HSD3B2 and CYB5A immunoreactivities were sharply segregated in the normal adrenal glands, whereas areas of overlapping expression were identified in the 21OHD adrenals. CONCLUSIONS All four 11oxC19 steroids are elevated in both men and women with classic 21OHD. Our data suggest that 11oxC19 steroids are specific biomarkers of adrenal-derived androgen excess.

/pdf/adrenal-derived-11-oxygenated-19-carbon-steroids-are-the-l5p8mw73ae.pdf

Adrenal-derived 11-oxygenated 19-carbon steroids are the dominant androgens in classic 21-hydroxylase deficiency

Three biliary cystadenomas are reported. Two occurred in the left lobe of the liver and the third involved the right lobe and the medial segment of the left lobe. All three patients had gray scale sonography of the liver and two underwent hepatic angiography. The sonographic features were similar to those of cystadenoma of the ovary or pancreas, that is, multilocular cystic lesions with septations and papillary projections. Angiographically the lesions were hypovascular with a faint rim of contrast-material accumulation in the wall and septa of the mass.

Biliary cystadenomas: sonographic-angiographic-pathologic correlations

Objective
Correct subtyping of primary aldosteronism (PA) is essential for good surgical outcomes. Adrenal vein sampling (AVS) and/or computed tomography (CT) are used for PA sub-classification. Clinical and/or biochemical improvement after surgery, however, is not always achieved in patients with presumed unilateral PA. We aimed to identify the pitfalls in PA sub-classification leading to surgical treatment failures.

Patients and Design
We retrospectively studied 208 patients who underwent adrenal vein sampling (AVS) for PA sub-classification in a tertiary referral centre, between January 2009 and August 2016. Simultaneous bilateral AVS was performed before and after cosyntropin administration. We implemented immunohistochemistry for aldosterone synthase (CYP11B2) and 17α-hydroxylase/17,20 lyase (CYP17A1) in adrenal glands resected from patients without improvement of PA after surgical treatment and from those with limitations in AVS interpretation.

Results
Of 55 patients who underwent adrenalectomy, three (5.5%) had no improvement of PA. All three patients underwent partial adrenalectomy to remove a CT-detected nodule present on the same side with AVS lateralization. Immunohistochemistry revealed a CYP11B2-negative nodule in both cases available. All patients who underwent total adrenalectomy based on AVS lateralization benefitted from surgery, including three patients with unilateral unsuccessful AVS and aldosterone suppression in the catheterized side vs. inferior vena cava.

Conclusions
Radiographically identified adrenal nodules are not always a source of PA, even when ipsilateral with AVS lateralization. These data caution against reliance on imaging findings, either alone or in conjunction with AVS, to guide surgery for PA.

This article is protected by copyright. All rights reserved.

https://onlinelibrary.wiley.com/doi/pdf/10.1111/cen.13442

Discordance between imaging and immunohistochemistry in unilateral primary aldosteronism.

To report technical success and clinical outcome of cholecystostomy tube placement along with timing—and method—of tube removal. A retrospective review of cholecystostomy tubes placed from January 2010 to September 2017 was performed at a single academic center. This search yielded 1160 patients. Of these patients, 324 (27.9%) met inclusion criteria for cholecystostomy placement, 199 (61.4%) males and 125 (38.6%) females, with mean age of 67 years (range 6–101 years). The indication for cholecystostomy tube placement, technical success, surgical candidacy, medical comorbidities, clinical outcome, tube indwelling time, complications, and follow-up were recorded. Indications for cholecystostomy tube placement included: acute cholecystitis (n = 270; 83.3%), perforated cholecystitis (n = 22; 6.8%), emphysematous cholecystitis (n = 18; 5.6%), and other (n = 14; 4.3%). Technical success was 100%. Many patients had multiple medical comorbidities including (most commonly): debilitation (n = 211; 65.1%), cardiovascular disease (n = 194; 59.9%), multisystem disease (n = 181; 55.9%), and malignancy (n = 131; 40.4%). After tube placement, 96 (29.6%) patients underwent definitive cholecystectomy, 94 expired (29.0%), 36 (11.1%) had a patent cystic duct on follow-up cholangiogram and subsequent cholecystostomy removal, 14 (4.3%) underwent cholecystoscopy with stone removal, and 3 (0.9%) had liver transplantation. Forty-five (13.9%) patients had indwelling tubes at the end of the study period. Mean tube indwelling time was 89 days (range 0–586 days). Technical success for cholecystostomy tube placement was 100% with all patients having clinical resolution of acute cholecystitis. Many patients were able to have tubes subsequently removed.

Percutaneous Cholecystostomy: Long-Term Outcomes in 324 Patients

CONTEXT Cosyntropin [ACTH (1-24)] stimulation during adrenal vein (AV) sampling (AVS) enhances the confidence in the success of AV cannulation and circumvents intraprocedure hormonal fluctuations. Cosyntropin's effect on primary aldosteronism (PA) lateralization, however, is controversial. OBJECTIVES To define the major patterns of time-dependent lateralization, and their determinants, after cosyntropin stimulation during AVS. METHODS We retrospectively studied patients with PA who underwent AVS before, 10, and 20 minutes after cosyntropin stimulation between 2009 and 2018. Unilateral (U) or bilateral (B) PA was determined on the basis of a lateralization index (LI) value ≥4 or <4, respectively. Available adrenal tissue underwent aldosterone synthase-guided next-generation sequencing. RESULTS PA lateralization was concordant between basal and cosyntropin-stimulated AVS in 169 of 222 patients (76%; U/U, n = 110; B/B, n = 59) and discordant in 53 patients (24%; U/B, n = 32; B/U, n = 21). Peripheral and dominant AV aldosterone concentrations and LI were highest in U/U patients and progressively lower across intermediate and B/B groups. LI response to cosyntropin increased in 27% of patients, decreased in 33%, and remained stable in 40%. Baseline aldosterone concentrations predicted the LI pattern across time (P < 0.001). Mutation status was defined in 61 patients. Most patients with KCNJ5 mutations had descending LI, whereas those with ATP1A1 and ATP2B3 mutations had ascending LI after cosyntropin stimulation. CONCLUSION Patients with severe PA lateralized robustly regardless of cosyntropin use. Cosyntropin stimulation reveals intermediate PA subtypes; its impact on LI varies with baseline aldosterone concentrations and aldosterone-driver mutations.

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James J. Shields

Papers

Adrenal-derived 11-oxygenated 19-carbon steroids are the dominant androgens in classic 21-hydroxylase deficiency

Biliary cystadenomas: sonographic-angiographic-pathologic correlations

Discordance between imaging and immunohistochemistry in unilateral primary aldosteronism.

Percutaneous Cholecystostomy: Long-Term Outcomes in 324 Patients

Three Discrete Patterns of Primary Aldosteronism Lateralization in Response to Cosyntropin During Adrenal Vein Sampling.