Diagnosis Of Endocrine Diseases Research Articles

DIAGNOSIS OF ENDOCRINE DISEASE: High-yield thyroid fine-needle aspiration cytology: an update focused on ancillary techniques improving its accuracy.

Thyroid fine-needle aspiration (FNA) cytology is a fast growing field. One of the most developing areas is represented by molecular tests applied to cytological material. Patients that could benefit the most from these tests are those that have been diagnosed as 'indeterminate' on FNA. They could be better stratified in terms of malignancy risk and thus oriented with more confidence to the appropriate management. Taking in to consideration the need to improve and keep high the yield of thyroid FNA, professionals from various fields (i.e. molecular biologists, endocrinologists, nuclear medicine physicians and radiologists) are refining and fine-tuning their diagnostic instruments. In particular, all these developments aim at increasing the negative predictive value of FNA to improve the selection of patients for diagnostic surgery. These advances involve terminology, the application of next-generation sequencing to thyroid FNA, the use of immunocyto- and histo-chemistry, the development of new sampling techniques and the increasing use of nuclear medicine as well as molecular imaging in the management of patients with a thyroid nodule. Herein, we review the recent advances in thyroid FNA cytology that could be of interest to the 'thyroid-care' community, with particular focus on the indeterminate diagnostic category.

DIAGNOSIS OF ENDOCRINE DISEASE: Thyroglobulin measurement using highly sensitive assays in patients with differentiated thyroid cancer: a clinical position paper

Differentiated thyroid cancer (DTC) is the most common endocrine cancer and its incidence has increased in recent decades. Initial treatment usually consists of total thyroidectomy followed by ablation of thyroid remnants by iodine-131. As thyroid cells are assumed to be the only source of thyroglobulin (Tg) in the human body, circulating Tg serves as a biochemical marker of persistent or recurrent disease in DTC follow-up. Currently, standard follow-up for DTC comprises Tg measurement and neck ultrasound combined, when indicated, with an additional radioiodine scan. Measurement of Tg after stimulation by endogenous or exogenous TSH is recommended by current clinical guidelines to detect occult disease with a maximum sensitivity due to the suboptimal sensitivity of older Tg assays. However, the development of new highly sensitive Tg assays with improved analytical sensitivity and precision at low concentrations now allows detection of very low Tg concentrations reflecting minimal amounts of thyroid tissue without the need for TSH stimulation. Use of these highly sensitive Tg assays has not yet been incorporated into clinical guidelines but they will, we believe, be used by physicians caring for patients with DTC. The aim of this clinical position paper is, therefore, to offer advice on the various aspects and implications of using these highly sensitive Tg assays in the clinical care of patients with DTC.

DIAGNOSIS OF ENDOCRINE DISEASE: Thyroid ultrasound (US) and US-assisted procedures: from the shadows into an array of applications

In patients with thyroid nodules, ultrasound (US) imaging represents an indispensable tool for assessment of the risk of malignancy. Over approximately four decades, innovative technology and successive improvements have facilitated its entry into the routine management and greatly improved its predictive value. When US features cannot reliably rule out thyroid cancer, US guidance allows a correct and safe sampling also of small or deeply located thyroid lesions. Obtained in this way, cytological or microhistological specimens may reliably define the nature of most thyroid nodules, and the information from histochemical or molecular markers shows promise in the classification of the remaining indeterminate cases. While a prompt surgical treatment can be offered in the minority of suspicious or definitely malignant cases, most individuals warrant only a follow-up. However, at initial evaluation, or over the years, a fraction of these benign lesions may grow and/or become symptomatic. Such cases may benefit from US-guided minimally invasive procedures as an alternative to surgery. Image-guided percutaneous treatments most often achieve relief of neck complaints, are inexpensive, and can be performed on an outpatient basis. The risk of major complications, after adequate training, is very low. Importantly, thyroid function is preserved. Currently, percutaneous ethanol injection for cystic lesions and thermal ablation, with laser or radiofrequency, for solid nodules are increasingly used and disseminated beyond the initial core facilities. In centres with expertise and high patient volume, their use should be considered as first-line treatment alternatives to surgery for selected patients with benign enlarging or symptomatic thyroid lesions.

Endokrinologische Laboruntersuchungen – wo liegen die Probleme?

Endocrine disorders are common in internal medicine. Diagnosis of endocrine diseases are usually based on patient history, clinical assessment and laboratory investigations. Thereby, biochemical analyses are used to confirm clinical diagnosis, to assess the need for treatment and to monitor disease progression, in particular to ascertain treatment efficacy. This article will focus on frequently used laboratory investigations for endocrine diseases such as diabetes, thyroid dysfunction, male hypogonadism and adrenal insufficiency. In particular, pre-analytical and analytical variability of biochemical measures as well as its significance in clinical practice will be discussed.

DIAGNOSIS OF ENDOCRINE DISEASE: Limitations of the IGF1 generation test in children with short stature

The IGF1 generation test (IGFGT) is often used during the assessment of suspected GH insensitivity (GHI). We report the results of a survey undertaken in 2010 to determine the use of IGFGT amongst members of the European Society for Paediatric Endocrinology to evaluate suspected GHI. The literature surrounding the usefulness and limitations of IGFGT are reviewed, and recommendations provided for its use. Of 112 paediatric endocrinologists from 30 countries who responded to the survey, 91 (81%) reported that they had used the IGFGT in the previous 2 years; >10 IGFGT protocols were used. The IGFGT impacted treatment decisions for 97% of the respondents and was a prerequisite for recombinant human IGF1 treatment for 45% of respondents. From a literature review, sensitivity of the IGFGT was evaluated as 77-91% in molecularly proven cases of GHI; specificity was ≤97%, depending on the protocol. The positive predictive value of the IGFGT is likely to be low, as the frequency of normality is predictably higher than that of abnormality in GH signalling. Given the limitations of the IGFGT in the most severe cases of GHI syndrome (GHIS), the ability of the IGFGT to detect less severe GHIS is doubtful. In a pragmatic approach, the IGFGT may not be useful for the diagnosis of GHIS.

Towards a rational use of endocrine function tests in the diagnosis of endocrine diseases

Towards a rational use of endocrine function tests in the diagnosis of endocrine diseases

ENDOCRINE ANGIOGRAPHY AND VENOUS SAMPLING

Localization procedures are performed only after the diagnosis of endocrine disease is established. Arteriography and venous sampling may be essential to locate a small hyperfunctioning endocrine tumor or to assist in distinguishing between disease caused by a solitary tumor and disease caused by diffuse hyperplasia. These procedures require a detailed knowledge of vascular anatomy and must be performed meticulously to avoid incorrect results. Close cooperation between the radiologist and the endocrinologist is essential for optimal results. These procedures are complex and are rarely performed outside of the few centers where endocrine problems are frequently evaluated. In many cases, the patient may be best served by referral to an institution where these radiologic studies are routine.

Use of molecular probes in the study of endocrine diseases

DNA hybridization techniques are now commonly used in studies of endocrine disease. Although solution and filter hybridization have been more widely used in endocrine studies, ISH offers many advantages to the pathologist. Individual cells can be visualized directly with the microscope to study the expression of specific gene products. ISH is somewhat similar to immunohistochemistry and can be set up rapidly in most histology laboratories, especially when nonradioactive biotinylated probes are used. The ability to combine ISH with immunochemical techniques offers to the pathologist the use of two powerful diagnostic tools simultaneously. Although DNA hybridization has only begun to have an impact in diagnostic pathology, many studies using this technique in the diagnosis of endocrine diseases are emerging. The availability of more probes, especially with nonradioactive detection systems, should accelerate the application of these techniques in diagnostic pathology. As the number of molecular probes available for hybridization studies increases, pathologists can have a major impact in this field by carefully evaluating probes that have potential diagnostic value for their specificity and sensitivity in a wide variety of normal and abnormal human tissues. Such careful and critical analyses will contribute greatly to the confidence with which these molecular probes can be used as another tool in the analysis of difficult diagnostic lesions. Molecular hybridization techniques will also contribute greatly to our knowledge of basic biology and pathophysiology in the study of abnormal gene expression in endocrine and other pathologic conditions.

The Use of Cytogenetic Techniques for the Diagnosis of Endocrine Diseases

Chromosome analysis is the genetic technique useful in evaluating endocrine disease. Indications for cytogenetic studies include suspected sex chromosomal aneuploidies as well as repeated fetal wastage. In patients with ambiguous genitalia, cytogenetic studies are mandatory, not only to provide information for assigning sex but, more importantly, for identifying individuals who are at risk for developing gonadal tumors because of the combination of a Y chromosome and dysgenetic gonads.

Endocrine Pathology: General and Surgical

Advances in endocrine pathology have occurred at a remarkable pace in the past decade, and publication of the second edition of Bloodworth's comprehensive text on this subject is an especially welcome event. In this revision, new authors have joined the illustrious list of contributors. The number of chapters has been increased from 19 to 20, and all chapters have been extensively revised or rewritten to bring the book up to date. The title has been changed to reflect the addition of information on surgical pathology that has been integrated into the text. Dozens of illustrations, generally of the highest quality, have been added, and numerous excellent electron micrographs compliment the gross and microscopic pictures. Chapters on endocrine cells of the digestive and respiratory systems, the effect of steroids on the female reproductive tract, and the role of laboratory tests in the diagnosis of endocrine disease are particularly valuable additions. To

Plasma and urinary luteinizing hormone levels in the diagnosis of endocrine disease.

The diagnostic value of measurements of plasma and urinary luteinizing hormone (LH) has been studied in 209 patients with endocrine disease. In 44 patients puberty was either delayed or had failed to occur. In those with chromosomal abnormalities the LH levels were often within the normal range, whereas those with a pituitary cause usually had low levels. In boys with delayed puberty plasma LH levels rose before physical changes occurred and had prognostic value. In patients with later gonadal failure, men with impotence or infertility, and women with secondary amenorrhoea LH assays proved of little value, although in one case a premature menopause was suspected and six patients with anorexia nervosa had low LH levels.Sixty patients with disorders of the hypothalamicpituitary area were studied. Levels of LH were measured and considered in relation to the other anterior pituitary hormones. Impairment of LH secretion was one of the first effects on hormone production of disease affecting this area, and this was, of course, most readily detected in postmenopausal women.The normal ranges of both plasma and urine LH are wide and there seems to be considerable day-to-day variation, especially of urinary output. Several samples should, therefore, be measured if therapeutic decisions are involved.

Recent Advances in the Diagnosis of Endocrine Disease

Recent Advances in the Diagnosis of Endocrine Disease

Recent Advances in the Diagnosis of Endocrine Disease

Recent Advances in the Diagnosis of Endocrine Disease

Recent Advances in the Diagnosis of Endocrine Disease

Recent Advances in the Diagnosis of Endocrine Disease

Recent Advances in the Diagnosis of Endocrine Disease

Recent Advances in the Diagnosis of Endocrine Disease

Practical aspects of insufficiency of the anterior pituitary gland in the adult.

AVOLUMINOUS literature bears witness to the intense interest and attention centered on the pituitary gland, and to the position of prime importance that it occupies among the endocrine glands. Such notoriety, though perhaps justified, has introduced many divergent opinions with sufficient confusion to distract the interest of the average reader from certain practical data relating to pituitary disorders. It is not difficult to understand how this situation has evolved: 1. Conclusions based on animal work have been too freely transposed and applied to human beings. 2. The tools used in studying pituitary function, especially in man, have been notably crude. 3. Many pituitary hormones employed clinically have been impure, of varying potency and quite unpredictable in the response which they elicit. 4. Inaccuracies have been perpetuated by adherence to historical precedent. Cachexia often is still regarded as a sine qua non of destruction of the anterior pituitary, probably because it was mentioned in the early descriptions of Simmonds' disease. 5. The diagnosis of endocrine disease has often been based on flimsy evidence. Thus, to some, every fat child with girdle obesity and small external genitalia becomes an instance of Fröhlich's syndrome, and every woman with menstrual irregularity has a primary pituitary endocrinopathy.

The Value of Roentgen Rays in the Diagnosis of Endocrine Diseases

In the present-day diagnosis of endocrine disorders, careful attention is given to the patient's family, prenatal, postnatal, and present history, laboratory and biochemical studies are made, and anthropometry is employed. Roentgen-ray examination is the most useful aid in diagnosis, since skeletal growth and development constitute one of the basic evidences of endocrine status in children as well as in adults. The thyroid and pituitary are the glands principally concerned. The formation, growth, and alignment of bones take place with regularity, beginning in the fetal state and continuing through different epochs after birth. Departure from the normal on the part of the ossifying centers or the epiphyses denotes a disturbance of one or more of the endocrine glands. Roentgen examination of the bony framework and structure in infants and children is therefore of the utmost importance; it is, in fact, a necessity, as it may be the only method of diagnosing endocrine disease. Engelbach, in his Endocrine Medi...

STUDIES OF THE ENDOCRINE GLANDS. I. A GENERAL METHOD FOR THE DIAGNOSIS OF ABNORMAL FUNCTION

This paper is the first of a series summarizing the results of a study on the diagnosis of endocrine diseases by objective methods. The work was begun in 1912 and in its course nearly 3,000 individuals have been carefully studied by a large group of clinicians and laboratory workers. During the past few years several brief papers have appeared (1) presenting certain preliminary statements on the results of these studies. These have been supplemented by the reports of several clinical investigations based upon the method (2). With the completion of a series of 1,000 cases in which this procedure has been applied,* it has seemed desirable to present the facts thus far elicited with such conclusions as they may be felt to warrant. The present paper, as the title implies, deals with the general technique.

I. THE BLOOD SUGAR IN THYROID AND OTHER ENDOCRINE DISEASES

It is generally recognized that the thyroid and other endocrine glands exert an influence on carbohydrate metabolism, but a clear understanding of this function has not as yet been reached. Experimental studies of this subject were accordingly undertaken and are reported in this article. They demonstrate that following the abolition of thyroid function there ensues (1) hypoglycemia and (2) a tendency to delayed removal of glucose from the blood; that is, a delayed blood sugar tolerance curve. Clinical studies on hypoglycemia and the blood sugar tolerance were also made in a series of thyroid and other cases. This paper presents a detailed account of these observations which emphasize the value of blood sugar estimations in the study and diagnosis of endocrine diseases. I. Experimental Hypoglycemia and the Delayed Blood Sugar Curve. —Previous studies on the effect of thyroidectomy on carbohydrate metabolism have led to contradictory results. Falkenberg,1Rahel Hirsch,2also