Der Internist
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The number of adults with congenital heart disease (ACHD) is steadily increasing. The present cross-sectional study was conceived to investigate ACHD care from the perspective of patients and family practitioners (specialists for general medicine and internal medicine, general practitioners). ⋯ General practitioners are a mainstay of ACHD care in Germany. The present study shows that ACHD and their general practitioners are largely uninformed about the specialized care structures available nationwide, despite the high level of need for specialist care. In order to keep the morbidity and mortality of affected patients low, solutions must be elaborated in future to involve and integrate primary care physicians more intensively into the already existing dedicated ACHD care structures, in cooperation with specialized pediatric cardiologists, cardiologists and centers.
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Endogenous Cushing's syndrome is a rare endocrine disorder that is fatal if left untreated. It can be distinguished into adrenocorticotropic hormone (ACTH)-dependent (central and ectopic Cushing's syndrome) and ACTH-independent subtypes (unilateral or bilateral adrenal adenomas). The clinical presentation of patients includes typical stigmata of cortisol excess with physical symptoms of catabolic metabolism (myopathy, striae, parchment skin, osteoporosis) and components of metabolic syndrome (diabetes mellitus, obesity, arterial hypertension, hypercholesterolemia). ⋯ First-line therapy for all subtypes is surgery when possible; additional options for all forms include drug therapy and bilateral adrenalectomy. Despite adequate treatment, Cushing's syndrome is associated with increased long-term morbidity and mortality. Interdisciplinary and multimodal therapy management is necessary in the long term to positively influence mortality and reduced quality of life.
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Autonomous cortisol secretion was mentioned for the first time in 2016 in the European Guideline on the management of adrenal incidentalomas. ⋯ Autonomous cortisol secretion is a term used to describe abnormal cortisol secretion diagnosed by a pathological 1‑mg dexamethasone suppression test in patients with adrenal incidentaloma, but without clinical manifestation of overt Cushing's syndrome. It is associated with increased mortality and morbidity, especially hypertension, diabetes mellitus type II, dyslipidemia and obesity. Adrenalectomy, as the only specific therapy option, should be considered in an interdisciplinary tumour board.
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Congenital adrenal hyperplasia (CAH) is one of the most common autosomal recessive disorders and is characterized by cortisol deficiency. The most common cause of CAH is a mutation in the CYP21A2 gene, resulting in 21-hydroxylase deficiency in the adrenal cortex. The lack of cortisol causes an increase in adrenocorticotropic hormone (ACTH), which in turn results in an excess of adrenal androgens. ⋯ As current glucocorticoid therapy cannot mimic the physiological circadian rhythm and is usually supraphysiological in dose to control androgen excess, therapy-associated long-term consequences such as decreased bone health and an increased cardiometabolic risk profile are common. The burden of the disease may also lead to impaired quality of life and mental health. For this reason, regular screening and follow-up of patients with CAH should be performed in specialized centers to detect and treat possible comorbidities at an early stage.