... Abstract Congenital Adrenal Hyperplasias (CAH) are genetic diseases transmitted in an autosomal recessive way and these diseases affect many aspects of human health. The majority of CAH cases is due to a deficiency in 21-hydroxylase as a result of the existence of mutations in both alleles...

... Abstract Deficiency of the 21-hydroxylase enzyme is the most common form of congenital adrenal hyperplasia (CAH), accounting for more than 95% of the cases. With the advent of newborn screening and hormone replacement therapy, most children with CAH survive into adulthood. Adolescents...

... of hormone replacement therapy in adrenal insufficiency (AI). Registry studies indicate increased cardiovascular mortality, hypertension, diabetes, and dyslipidemia in both primary and secondary AI, but when cohorts with carefully characterized patients are studied the picture is less clear, and recently...

... Abstract Exercise represents a potent physiological stimulus upon the hypothalamo-pituitary adrenal (HPA) axis. Two major factors modulate the HPA axis response to exercise: intensity and duration. Endurance training per se does not induce permanent hypercortisolism as endurance-trained...

... Abstract Primary adrenal hypercortisolism is mainly due to cortisol-producing adrenocortical adenomas, bilateral micronodular or macronodular disease, and adrenal carcinomas. Important advances in the pathophysiology of primary adrenal hypercortisolism have been made in the last few years...

... Abstract Adrenal insufficiency (AI) is a potentially life-threatening condition and it is of utmost importance to identify and adequately manage affected individuals. Diagnosis is often delayed, probably partly because diseases of the adrenal or pituitary region that cause primary AI (PAI...

... of primary adrenocortical insufficiency (PAI) in around 80-90% of cases [ 1 ]. Autoimmune PAI is also known as autoimmune Addison's disease (AAD), after the name of the physician who in 1855 described the disease and attributed it to a pathology of the adrenal glands. In AAD, autoimmune adrenalitis...

... following a long and mainly asymptomatic period, characterized by the presence of circulating autoantibodies directed to adrenal cortex antigens. In this chapter we describe the groups of subjects at risk of developing Addison's disease, together with the diagnostic tests considered the most appropriate...

... Abstract The diagnosis of adrenal insufficiency (AI) is a challenge. Most signs and symptoms are nonspecific and vary considerably depending upon the underlying cause and degree of AI. Identification of AI is crucial because the disease may be life-threatening if left unrecognized...

... Abstract Adrenal failure secondary to hypothalamic-pituitary disease is a common although underestimated and underdiagnosed condition, with serious consequences. Corticotropin deficiency can be isolated or more frequently occur in association with other pituitary hormones deficiencies. The most...

... Abstract For a long time it has been assumed that patients with chronic adrenal insufficiency under established replacement therapy have a normal life expectancy and a normal everyday life. Recent studies now indicate both an impairment of quality of life (QoL) with a negative impact on daily...

... Abstract Congenital adrenal hyperplasia (CAH) describes a family of disorders that comes from enzymatic deficiencies in cortisol production, with 21-hydroxylase deficiency causing ∼90% of cases. Distinction is made between the severe classical form and milder nonclassical form of CAH. Molecular...

... Abstract Glucocorticoid treatment in adrenal insufficiency remains a challenge since many patients complain of fatigue, reduced health-related quality of life and working ability. Moreover, there is a fear of increased mortality and morbidity related to adrenal crises and chronic overexposure...

... Abstract The adrenal glands are located superior to the kidneys and play an important role in the endocrine system. Each adrenal gland contains an outer cortex, responsible mainly for the secretion of androgens and corticosteroids, and an inner medulla, which secretes epinephrine...

... Abstract The major workload in the field of adrenal imaging comprises patients with adrenal tumors incidentally depicted by imaging performed for other reasons than adrenal disease. These so-called ‘incidentalomas' are generally managed by CT and MRI, and molecular imaging techniques...

... Abstract A major hallmark of classical congenital adrenal hyperplasia (CAH) is genital ambiguity noted at birth in affected females, which leads to psychological and psychosexual issues in adult life. Attempts to correct genital ambiguity through surgical intervention have been partially...

... Abstract This chapter refers only to female patients with congenital adrenal hyperplasia (CAH). CAH represents the largest subgroup of individuals with 46,XX disorders of sex development. The stimulation of the androgen production leads to a prenatal virilization among these girls...

... Abstract Non-classic adrenal hyperplasia (NCAH) is a disease in which a partial deficiency of the steroidogenic enzyme 21-hydroxylase produces mild to moderate hyperandrogenemia, hirsutism, polycystic ovaries, oligomenorrhea or amenorrhea, insulin resistance, male pattern baldness...

... Abstract Adrenal disorders present a spectrum from very common benign adrenal tumors without hormone disturbances causing few health problems to rare diseases which can be life-threatening if left unrecognized, such as adrenocortical insufficiency or a tumor in the adrenal medulla which...