[Thyroid and aging: the present state of art].

Aging is associated with important changes in thyroid hormone secretion, metabolism, and action. It remains unclear, however, whether altered activity of the hypothamic-pituitary- thyroid axis represents physiologic changes in thyroid function or whether they are secondary to thyroid dysfunction. The prevalence of thyroid disorders increases with age, but because some thyroid-associated symptoms are similar to symptoms of the aging process, these disorders are relatively rarely diagnosed. On the other hand, because of the possible presence of chronic, non-thyroidal illnesses or pharmacotherapy, diagnosis of thyroid disorders in older populations is often much more challenging than in young people. Progress made in better understanding of thyroid disorders in older people has thrown a new light on the management of patients with these disorders, the clinical picture of which is often atypical. Therefore, physicians need a high index of suspicion to detect thyroid dysfunction in an older person with multiple comorbidities and chronic polypharmacy. The purpose of this article is to review the present state of knowledge on the age-related changes in hypothalamicpituitary- thyroid axis activity and to discuss the clinical course, diagnosis and treatment of thyroid disorders in the elderly.

[Endocrine abnormalities in patients with chronic renal failure - part II]. / Zaburzenia endokrynologiczne u chorych z przewlekla niewydolnoscia nerek - czesc II.

The kidneys play a crucial role in maintaining homeostasis of fluids and electrolytes, acid-base balance, and volume regulation. In subjects with chronic renal failure, particularly at its later stages, these adaptive responses are impaired and some of these alterations are of clinical relevance. The ways in which chronic renal failure affects function of endocrine organs include impaired secretion of kidney-derived hormones, altered peripheral hormone metabolism, disturbed binding to carrier proteins, accumulation of hormone inhibitors, as well as abnormal target organ responsiveness. Apart from secondary hyperparathyroidism, thyroid dysfunction and impaired growth, reviewed in our previous study, endocrine disturbances that most frequently affect this group of patients include: abnormal functioning of the hypothalamic-pituitary-adrenal and hypothalamicpituitary- gonadal axes, bone loss and gynecomastia. The clinical picture and laboratory findings of these endocrine disturbances depend on the treatment strategy.

[Pituitary disorders in elderly patients].

The increase in life expectancy of about 30 years in the developed countries represents one of the most important achievements of the last hundred years. During aging, normal pituitary activity undergoes significant changes, reflecting the complex relationship between aging and endocrine systems. These alterations are postulated to be causally linked to human aging, possibly contributing to changes in body composition, bone structure, physical performance, cardiovascular system functions, and increased morbidity and mortality. Owing to age-dependent physiological changes in pituitary function, as well as coexistent chronic illness and polypharmacy, interpretation of pituitary function tests in older adults is more difficult than in the younger. As symptoms of pituitary disorders may overlap with what is considered to be ''normal aging,'' the presence of a pituitary disorder in the elderly may often go undiagnosed. Unrecognized and untreated pituitary disorders are associated with adverse outcomes that can be ameliorated or prevented by adequate therapy. This paper summarizes the present state of knowledge on the age-related changes in pituitary function, as well as discusses the etiology, clinical manifestation, diagnosis, and management of pituitary disorders in the elderly.

[Nelson's Syndrome].

Nelson's syndrome is a rare condition defined by enlargement of a pituitary adenoma following bilateral adrenalectomy for treatment of Cushing disease. Nelson's syndrome occurs at an incidence of 8-38% and is more frequent in younger people. This syndrome is characterized by skin hyperpigmentation and very high circulating levels of adrenocorticotrophic hormone. The pathophysiology of the disease is still not fully understood, and it is unknown what factors drive corticotroph cells in these patients. Presently, the syndrome is diagnosed at earlier stages and therefore its clinical manifestation is less typical than in the past. However, we can still find cases of full-blown Nelson's syndrome, resulting from massive tumor growth and dramatically increased production of adrenocorticotrophic hormone. Treatment of this syndrome largely consists of surgery and/or radiotherapy because of the limited effectiveness of pharmacotherapy. Although no guidelines have been published, it is reasonable to perform pituitary imaging and to assess adrenocorticotrophic hormone in all patients, particularly during the first years after bilateral adrenalectomy. The purpose of this paper is to review the current views on the etiopathogenesis, clinical presentation, diagnosis and treatment of Nelson's syndrome.

Rectal prolapse in young women.

UNLABELLED: Rectal prolapse belongs to the group of rare diseases of the rectum and anus. It is mostly observed in elderly multiparous women in the seventh and eighth decade. The precise cause of this pathology is not thoroughly understood that is why there are no optimal standards of treatment. The aim of the study was to present pathophysiology, diagnostics and optimal surgical procedures employed in young patients with rectal prolapse. MATERIAL AND METHODS: Out of a 56-patient group treated in Department of General and Colorectal Surgery in the years 2006-2011 a smaller one consisting of 11 young women between the ages 20-40 was selected. According to the literature this is a very rare time of the mentioned pathology occurrence. In the studied females grade of rectal prolapse as well as faecal incontinence based on Jorge-Wexner's (Cleveland) scale were assessed before and after the operative treatment. All of them underwent transabdominal Wells and Frikman-Goldberg prolapse procedures. RESULTS: Transabdominal approaches repair pathologies of the pelvic floor and have promising longstanding results improving quality of life. No rectal prolapse recurrences were observed. The mean score of the Wexner's grading system was 7.81 diminishing to 1.9 points postoperatively. CONCLUSIONS: Rectal prolapse if untreated, is a pathology that substantially changes patients' quality of life for the worse. Individual, standardized surgical approach to each patient is necessary. Transabdominal methods carry a low risk of complications and improve quality of life of young patients enabling a relatively quick return to normal life.

[Hypoparathyroidism: the present state of art]. / Niedoczynnosc przytarczyc: wspólczesny stan wiedzy.

Hypoparathyroidism is a result of reduced secretion or impaired action of parathyroid hormone (PTH). Although considered a rare condition, hypoparathyroidism seems to occur much more frequently than reported. In most cases, hypoparathyroidism remains a complication of neck surgery. However, there is a growing incidence of the autoimmune form of hypoparathyroidism, which may occur in combination with other autoimmune diseases. As parathyroid glands are necessary to sustain life and maintain homeostasis, undetected or misdiagnosed hypoparathyroidism may pose a significant threat to health outcomes, as its presence may increase morbidity and mortality in affected individuals. The clinical consequences of PTH deficiency or impaired receptor action are multidirectional and include nervous hyperexcitability, paresthesias, cramps, tetany, hyperreflexia, convulsions, cataract, weakened tooth enamel, brittle nails and basal ganglia calcifications. In some patients, however, its manifestation may be non-specific, and in these cases the correct diagnosis may be easily missed. Laboratory measurements show hypocalcemia, hyperphosphatemia, and, with the exception of pseudohypoparathyroidism, inappropriately low or undetectable PTH levels. Treatment consists of oral calcium supplementation and vitamin D derivatives. In this review article, we discuss the causes, clinical picture, diagnosis and treatment of hypoparathyroidism and provide the reader with some practical guidance concerning dealing with a patient suffering from this disorder.

[Endocrine abnormalities in HIV-infected patients]. / Zaburzenia endokrynologiczne u osób zakazonych HIV.

HIV infection is associated with a number of adverse consequences, including endocrine disorders. The endocrine changes associated with HIV infection have been studied in depth and, as the results of so far carried out studies suggest, their aetiology is usually multifactoral. Their pathogenesis includes direct infection of endocrine glands by HIV or opportunistic organisms, infiltration by neoplasms and adverse effects of drugs. Endocrine problems that most frequently affect this group of patients include: hypogonadism, adrenal insufficiency, thyroid disorders, impaired growth hormone release, lipodystrophy and bone loss. They may develop in both the early as well as late stages of the infection, ranging from subclinical disturbances to overt endocrine symptoms. The purpose of this paper is to review the aetiology, clinical manifestations, diagnosis and treatment of HIV-associated endocrine disturbances with a special emphasis on the most recent literature.

High Resolution Melting analysis as a rapid and efficient method of screening for small mutations in the STK11 gene in patients with Peutz-Jeghers syndrome.

BACKGROUND: Peutz-Jeghers syndrome (PJS) is a rare hereditary syndrome characterized by the occurrence of hamartomatous polyps in the gastrointestinal tract, mucocutaneous pigmentation and increased risk of cancer in multiple internal organs. Depending on the studied population, its incidence has been estimated to range from 1:200 000 even up to 1:50 000 births. Being an autosomal disease, PJS is caused in most cases by mutations in the STK11 gene. METHODS: The majority of causative DNA changes identified in patients with PJS are small mutations and, therefore, developing a method of their detection is a key aspect in the advancement of genetic diagnostics of PJS patients. We designed 13 pairs of primers, which amplify at the same temperature and enable examination of all coding exons of the STK11 gene by the HRM analysis. RESULTS: In our group of 41 families with PJS small mutations of the STK11 gene were detected in 22 families (54%). In the remaining cases all of the coding exons were sequenced. However, this has not allowed to detect any additional mutations. CONCLUSIONS: The developed methodology is a rapid and cost-effective screening tool for small mutations in PJS patients and makes it possible to detect all the STK11 gene sequence changes occurring in this group.

[Rare causes of Cushing's syndrome]. / Rzadkie postacie zespolu cushinga.

Endogenous Cushing's syndrome seems to occur more frequently than previously anticipated. Both its initial diagnosis and differential diagnosis of the underlying disorder is undoubtedly challenging but important to identify sufferers among high-risk patients with disorders potentially related to cortisol excess. Apart from pituitary adenoma, adrenal tumor and ectopic ACTH secretion, there are a lot of disorders which rarely result in excessive glucocorticosteroid release and action. Remarkable progress in the area of hormonal assessment, imaging procedures and molecular biology has improved the diagnosis, differentiation and management of various clinical entities associated with development of Cushing's syndrome and let to the identification of some new disorders. Because these disorders may negatively affect survivals and, if not treated, lead to serious complications, it is essential to consider their presence in a differential diagnosis of various symptoms. The aim of this manuscript was to provide an overview of the contemporary etiopathogenesis, diagnosis and treatment of rare forms of Cushing's syndrome.

[Current opinions on the etiology and pathophysiology of hirsutism]. / Wspólczesne poglady na etiologie i patofizjologie hirsutyzmu.

Hirsutism, defined as the presence of terminal hairs in females in a male-like pattern, affects approximately 7% of women. It is a manifestation of a variety of disorders, the most common of which is polycystic ovary syndrome. In some cases, however, hirsutism may be the first clinical manifestation of a severe, and even life-threatening, underlying disorder such as an ovarian or adrenal tumour, congenital adrenal hyperplasia, or Cushing's syndrome. In 5 to 15% of hirsute patients with so called 'idiopathic hirsutism' there is no evidence of any disease or detectable androgen excess. Apart from the risk associated with the presence of underlying disorder, hirsutism has by itself a negative psychological impact on a quality of life of the patient. The aim of this overview, based mainly on the recent literature, is to describe in details the pathogenesis of hirsutism and various causes leading to this women's health problem.

Unfavorable effects of hyperprolactinemia in autoimmune endocrine disorders.

Prolactin is a hormone with a multidirectional proinflammatory action. It has an anti-apoptotic effect, enhances proliferative response to antigens and mitogens, as well as enhances the production of immunoglobulins and autoantibodies. Increased prolactin levels are commonly observed in various organ and multi-organ specific autoimmune diseases. In our article, we report a case of a woman who developed progression of autoimmune thyroid disorder and developed insufficiency of the zona glomerulosa when her prolactin levels were increased. A normalization of plasma prolactin levels by quinagolide and replacement of risperidone with aripiprazole improved her clinical condition. Our study suggests that, in some patients, hyperprolactinemia may predispose to the development and progression of autoimmune disorders of endocrine glands.

[Coexistence of resistance to thyroid hormone with pituitary incidentaloma]. / Wspólistnienie zespolu opornosci na hormony tarczycy z incidentaloma przysadki.

Contrary to generalized resistance, pituitary resistance to thyroid hormones is characterized by features of hyperthyroidism. Its clinical manifestation resembles that of thyrotropin (TSH)-secreting adenomas, tumors constituting about 1-2% of all pituitary lesions. Both patients with resistance to thyroid hormone and thyrotropin-secreting tumors have increased plasma thyroid hormone levels and raised or inappropriately normal thyrotropin levels. However, their treatment is different and therefore differentiation of these entities is very important. The significant progress made in recent years in the field of high-resolution imaging procedures led to a situation during which hormonally inactive adenomas not posing a risk to a patient's health, referred to as incidentalomas, are discovered in endocrine organs including the pituitary. In our paper, we report a case of a young man with predominant pituitary resistance to thyroid hormone. Because of coexisting pituitary incidentaloma the patient was initially misdiagnosed as having a TSH-secreting tumor. We describe in details diagnostic and treatment strategies applied in our patient. The described case of our patient illustrates the need for clinical awareness of the possible presence of resistance to thyroid hormones in subjects with central hyperthyroidism and focal lesions in the pituitary.

[The effect of oxcarbamazepine on the clinical effectiveness of dopamine agonists in the treatment of prolactinoma]. / Wplyw okskarbamazepiny na efektywnosc klinicznq leków dopaminergicznych w terapii guza prolaktynowego.

The CYP450 enzyme family plays a very important role in the biotransformation of many drugs with a different chemical structure. Therefore, the inhibition or induction of CYP enzymes may be responsible for the development of numerous drug interactions. Moreover, a peculiarity of constitution causes that some persons in particular situations may respond differently to a drug or treatment than do most people. In this article, we show a case of a young woman diagnosed with prolactinoma who was initially successfully treated with bromocriptine. Two years later she developed epilepsy secondary to brain trauma and as a result, she started receiving oxcarbamazepine treatment. Unfortunately, the treatment led to a deterioration of prolactinoma control. To normalize plasma prolactin levels, bromocriptine dose had to be increased and then replaced, initially with cabergoline and later with quinagolide. Only the latter drug effectively reduced plasma prolactin levels and tumor size. This case shows for the first time the existence of a drug interaction between dopamine agonists and any anti-epileptic drug in patients with prolactinoma.

[Right atrial tumour and right ventricular failure - diagnostic role of echocardiography and cardiovascular magnetic resonance]. / Guz prawego przedsionka i ciezka niewydolnosc prawej komory w badaniu echokardiograficznym i rezonansie magnetycznym serca.

A case of a 66 year-old female with advanced right ventricular failure is described. Echocardiography and MRI revealed the presence of right atrial tumour. The patient underwent successful surgery and histological examination revealed lymphoma.

Potential benefit of paracetamol administration in adult-onset Still's disease.

Still's disease is a rare, systemic inflammatory disease of unknown etiology, characterized by daily high fever, transient rash, arthritis, and organ involvement including lymphadenopathy, hepatosplenomegaly, pleuritis or pericarditis. The diagnosis of the disease is based on clinical signs and symptoms, and requires exclusion of infectious, neoplastic, and other autoimmune diseases. Treatment options include non-steroidal anti-inflammatory drugs (NSAIDs) and corticosteroids, sometimes in combination with immunosuppressive agents. We report the case of a 21-year-old man with a recent diagnosis of Still's disease. The fever, resistant to NSAIDs, resolved after treatment with paracetamol and the patient's general condition also improved. The present case has been the first to demonstrate that paracetamol may be an effective agent in adult-onset Still's disease.

Atypical clinical manifestation of antiphospholipid syndrome.

Antiphospholipid syndrome is a disorder characterized by recurrent venous or arterial thrombosis and/or recurrent abortions associated with persistently elevated levels of antiphospholipid antibodies. In some patients antiphospholipid syndrome occurs in association with systemic lupus erythematosus, or other autoimmune disorders or malignancies. Antiphospholipid syndrome can be induced by certain drugs. A correct diagnosis of this disease is necessary as it is potentially associated with serious and sometimes life-threatening complications. Clinical presentations of antiphospholipid syndrome may vary widely even in the same patient. The time between individual manifestations of the disease also varies considerably. Therefore its early detection requires a strong index of suspicion especially when thrombosis occurs at unusual sites or non-specific symptoms predominate in the clinical presentation. We report a case of a 20-year-old woman with a recent history of pulmonary embolism who was admitted to the hospital because of severe symptomatic anemia. Once the diagnosis of antiphospholipid syndrome coexisting with systemic lupus erythematosus as a primary disorder has been established, implemention of specific treatment resulted in markedly improved condition.