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PubMed1979

Rheumatic syndromes in endocrine disease.

It is not widely appreciated that endocrine disease may present primarily as rheumatic syndromes, sometimes spectacular in onset, more commonly insidious and subtle, making their true recognition difficult. The underlying hormonal, biochemical, and metabolic events have understandable reflection in the structure and function of bone, joint, and muscle.

Acromegaly↗
PubMed2001

[Conjunctival neuromas and prominent corneal nerve fibers as diagnostic indication of multiple endocrine disease].

BACKGROUND: Multiple endocrine neoplasias (MEN-syndromes) represent diverse, mostly autosomal-dominant inherited, seldom sporadic diseases. MEN 2B-syndrome comprises medullary thyroid carcinoma, pheochromocytoma and mucosal neuromas. PATIENT: A 30 year old male patient presented with bilateral chronic irritation of the ocular surface. The biomicroscopy revealed intraconjunctival worm-like alterations, prominent corneal nerves and nodules on the upper lid margins. HISTOLOGY: The performed conjunctival biopsy showed nearly no goblet cells, but prominent intrastromal, immunohistochemical S100-positive neuromas. RESULTS: The initiated investigations revealed bilateral multifocal medullary thyroid carcinoma and a left sited pheochromocytoma. CONCLUSION: Conjunctival neuromas and prominent corneal nerves can be diagnostic for the MEN 2B-syndrom. Early diagnosis and prophylactic thyroidectomy are expected to improve the life expectancy even in asymptomatic gene-carriers.

Adult↗
PubMedDate not supplied

[Characteristics of the clinical aspects, and hormonal and immunological status of thyrotoxicosis patients with a hereditary predisposition to endocrine diseases].

The levels of triiodothyronine (T3), thyroxine (T4), TTH, STH, free triiodothyronine index T3F/T3/T4, as well as the titers of antibodies to microsome-membranous antigen and thyroglobulin, were studied in thyrotoxic patients with hereditary predisposition to endocrine diseases (thyrotoxicosis, goiter, diabetes mellitus) and in subjects without such heredity. Peculiarities of the disease development and endocrinopathy distribution among their relatives were investigated. More pronounced disorders in thyroid hormone metabolism and humoral immunity state were seen in thyrotoxic patients with hereditary predisposition to endocrine diseases. In comparison with those of the subjects without this heredity. The risk of diabetes mellitus development was detected in thyrotoxic patients predisposed to diabetes mellitus. Clinical manifestations of thyrotoxicosis (the disease severity, goiter of the IVth sage, exophthalmos) were also more evident in subjects predisposed to endocrine diseases.

Adolescent↗
PubMed1993

Delta-5-androstenediol and its sulphate in serum and urine of normal adults and patients with endocrine diseases.

OBJECTIVES: We evaluated the role of delta-5-androstenediol (adiol) and its sulphates in health and endocrine diseases. DESIGN: Serum and urine samples from healthy adult men and pre and post-menopausal women were analysed by gas chromatography-mass spectrometry to establish reference values. In patients who were either evaluated or treated for endocrine diseases, sequential serum samples were collected and analysed. PATIENTS: Reference values were obtained from 24 healthy male, 23 premenopausal and 30 post-menopausal female volunteers. Adiol and delta-5-androstenediol-3-sulphate (adiol-3S) concentrations were determined in combination with other relevant steroids in patients with either pituitary (n = 5), adrenal (n = 2) or gonadal dysfunction (n = 1), or testicular carcinoma (n = 19). MEASUREMENTS: After addition of deuterated adiol as internal standard, serum and urine samples were extracted. Steroid sulphates were hydrolysed. The extracts and hydrolysates were purified on HPLC, adiol was derivatized and finally quantified by gas chromatography-mass spectrometry. RESULTS: The calculated reference ranges for adiol and adiol-3S concentrations in serum are respectively: in men 1.78-7.24 and 123-579 nmol/l, in premenopausal women 0.65-6.93 and 21.2-298 nmol/l and in post-menopausal women 0.29-2.90 and 6.1-184 nmol/l. Urinary values varied considerably. In the population with endocrine abnormalities serum adiol and adiol-3S concentrations were compared with other relevant steroids. CONCLUSIONS: The wide concentration range of adiol and adiol-3S in urine makes analysis of these steroids in urine of little clinical value. Serum concentrations of adiol and adiol-3S are higher in men than in women. Premenopausal values are higher than post-menopausal. Adiol and adiol-3S in serum are significantly correlated in pre and post-menopausal women, r = 0.51 and r = 0.69 respectively, but not in men. In endocrine patients the serum concentrations of adiol show an ACTH or LH dependency in women; adiol correlates with cortisol, dehydroepiandrosterone or androstenedione and, in males, additionally with testosterone. However, in several situations adiol correlates with none of these steroids. Although adiol secretion can be stimulated by ACTH and LH, the level of serum adiol is also determined by other factors. Finally, in adrenal carcinoma serum adiol and adiol-3S may be used as tumour markers.

Adult↗
PubMed2006

Gastrointestinal manifestations of endocrine disease.

The hormonal interactions among the systems throughout the body are not fully understood; many vague clinical symptoms may in fact be manifestations of underlying endocrine diseases. The aim of the following review is to discuss gastrointestinal manifestations of surgically correctable endocrine diseases, focusing on abnormalities of thyroid function, cancer and finally autoimmune diseases. We also review manifestations of pancreatic endocrine tumors, and multiple endocrine neoplasia.

Adenoma, Islet Cell↗
PubMedDate not supplied

[Secondary forms of diabetes mellitus associated with endocrine diseases].

Diabetes mellitus may occur in association with endocrine disorders and is termed "other causes of diabetes" by the American Diabetes Association. Hyperglycaemia results from sustained excessive hormonal secretion, which alters insulin secretion or action. It is characterized by the absence of ketosis because of the persistence of endogenous insulin secretion. Diabetes is usually reversible with successful treatment of the underlying endocrine disorder and the correction of hormonal overproduction. Most important endocrine diseases associated with diabetes mellitus are briefly described and the underlying mechanisms of glucose abnormalities are discussed.

Blood Glucose↗
PubMed1992

Recent advances in studies of the molecular basis of endocrine disease.

The molecular basis for a number of endocrine disorders has been determined in the last several years. Mutations have been described at multiple different steps in the pathways of hormone action. There are now examples of mutations in hormones themselves, hormone receptors, second messenger signalling pathways, and the transcription factors that transduce hormone signals. Several common themes emerge even from the relatively small number of mutations that have been described to date. First, the phenotypic variability that characterizes many endocrine diseases is also reflected in genetic heterogeneity. Some clinical phenotypes that were thought previously to represent distinct diseases can now be interpreted as manifestations of different types of mutations within a single gene. Second, the propensity of certain genes to be targets for frequent mutations may be explained in part by gene structure and organization. Third, although many of the mutations reported initially have been associated with severely affected patients, it is likely that mutations with less severe consequences will also be identified. Genetic polymorphisms within the normal population could also cause subtle differences in hormone or receptor activity, thereby constituting part of the basis for variability in hormone levels and activity. Finally, one can predict continued rapid advances in this field with transfer of genetic testing into clinical practice in the near future.

Animals↗
PubMed1998

Genetic and biochemical screening for endocrine disease.

The development of biochemical and genetic screening tests for inherited endocrine diseases has dramatically changed our approach to surgical patients with endocrine tumors. Among more than 1800 patients with endocrine tumors and a possible inherited disease operated on between 1986 and 1997, there were 6.1% to 7.3% who were found to have a familial disease associated with familial medullary thyroid cancer, (MTC), multiple endocrine neoplasia type IIa (MEN-IIa), MEN-IIb, or MEN-I. Genetic testing for the RET proto-oncogene is therefore recommended for all patients with MTC, and testing for the MEN-I gene is recommended in patients with suspected MEN-I and in specific clinical subgroups with an increased probability of endocrine tumor heredity. Early treatment based on early diagnosis by genetic testing appears to improve survival and to decrease morbidity in these patients.

Biomarkers↗
PubMedDate not supplied

[X-ray semeiotics of cranial involvement in endocrine diseases].

The incidence and type of x-ray semeiotics of the skull involvement were studied in 703 patients with endocrine diseases (26 with acromegaly, 36 with hypercorticism, 104 with thyrotoxicosis, 23 with hypothyrosis, 98 with primary hyperparathyrosis, 302 with diabetes mellitus, 114 with hypogonadism). Craniogram analysis involved study of the thickness and structure of the vault bones, shape and size of the skull, status of the sutures, internal plate relief, changes of the base of the skull, of the sella turcica first of all, and facial bones. The characteristic x-ray symptom complexes of the involvement of the skull in some endocrine diseases were distinguished.

Adult↗
PubMed1998

Sleep apnoea in endocrine diseases.

The pertinent literature on the prevalence, clinical manifestations and pathogenic mechanisms of sleep apnoea (SA) in endocrine diseases, namely acromegaly, Cushing syndrome, hypothyroidism and diabetes mellitus was reviewed. An increased prevalence is well documented in patients with active and treated acromegaly. While most authors report peripheral obstruction, due to hypertrophy of tongue and pharyngeal tissues, to be the cause of SA in acromegaly, some findings argue for a role of hormone-induced changes of central respiratory control. SA is also more common in hypothyroidism, especially when myxedema is present. The associated edema and myopathy appear to be of pathogenic importance. Thyroxin substitution is frequently effective for the treatment of SA but nCPAP can be necessary initially and in some patients even after remission of clinical signs of hypothyroidism. In Cushing disease and syndrome, parapharyngeal fat accumulation can cause SA, but no epidemiological information is available. In non insulin dependent diabetes (NIDDM), obesity is the common risk factor for both, nocturnal hypoxia and insulin resistance. In IDDM, the development of autonomic neuropathy may predispose to SA. Where treatment of the underlying endocrine disease is unable cure the associated SA, nCPAP is usually the treatment of first choice. More prospective studies are clearly needed to establish prevalences and resolve the controversies regarding pathogenesis.

Cushing Syndrome↗
PubMed1995

The surgical management of hyperparathyroidism and endocrine disease of the pancreas in the multiple endocrine neoplasia type 1 patient.

The surgical management of multiple endocrine neoplasia type 1 (MEN1) parathyroid disease and involvement of the endocrine pancreas remains controversial. Hyperparathyroidism, usually the first clinical manifestation of the syndrome, requires surgical treatment in nearly all patients. We favour a subtotal parathyroidectomy and cervical thymectomy rather than a total parathyroidectomy and autotransplant because of good long-term results and the absence of permanent hypoparathyroidism. The results of treating 34 MEN1 patients during a 20-year period are reported. The most common functional pancreatic or duodenal tumours in MEN1 patients are gastrinomas and insulinomas. In addition to the management of functional syndromes, another major concern is the malignant potential of the neuroendocrine tumours that frequently develop. Our surgical management of gastrinomas and the ZES has evolved over a period of 15 years. We have found that distal pancreatectomy, enucleation of any neoplasms in the head, and duodenotomy and excision of any neuroendocrine tumours (gastrinomas) combined with a regional node dissection are effective in the majority of patients. The results of treating 21 MEN1 patients with ZES are reported.

Adult↗