X-linked congenital Addison's disease.
Two male cousins developed symptoms and signs of Addison's disease at age 3 weeks. The family history indicates that their disorder is inherited as an X-linked recessive.
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Two male cousins developed symptoms and signs of Addison's disease at age 3 weeks. The family history indicates that their disorder is inherited as an X-linked recessive.
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A 61 year old Japanese man with a diagnosis of Addison's disease was admitted to Kyushu University Hospital for further investigation of high ACTH levels and hyperpigmentation which 37.5 mg of cortisone acetate failed to alleviate. The basal level of plasma ACTH was 700-1000 pg/ml, and following 25-37.5 mg cortisone acetate or 1 mg dexamethasone the levels were 300-600 pg/ml. The general pigmentation showed little improvement with such medication. Radiographic studies revealed a double floor of the sella turcica and cisternal herniation. These observations suggested the existence of a pituitary ACTH-secreting tumour. Plasma ACTH showed a circadian rhythm ranging from 440 to 1570 pg/ml and it was not suppressed to a normal range by oral administration of dexamethasone, 8 mg/day or by continuous infusion of dexamethasone, 1.25 mg/h for 2 h. Plasma ACTH responses of 80% above basal level to lysine-vasopressin (LVP), and 12% above basal to synthetic ovine corticotrophin releasing factor (CRF) were observed. FK 33-824, a methionine-enkephalin analogue, suppressed plasma ACTH to 85% of basal level, while bromocriptine (CB-154) caused no significant change. These findings led to a diagnosis of pituitary ACTH-secreting adenoma (corticotropinoma) in association with Addison's disease. The persistent circadian rhythm of plasma ACTH suggested that this adenoma may not be completely free from regulation by the central nervous system. This case may be clinically significant for investigation of the pathogenesis of pituitary adenoma, particularly in Nelson's syndrome.
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An insulin-requiring diabetic patient who developed Addison's disease is described. At diagnosis, investigations revealed biochemical hypothyroidism and these abnormalities resolved after replacement therapy for the adrenal failure only. The possible mechanism of this change is discussed in relation to the presence of organ-specific antibodies.
Adrenoleukodystrophy (Schilder-Addison's disease) is a sex-linked recessive syndrome usually observed in children, associating neurological disorders and Addison's disease. Its outcome is death after a few years. The authors report the case of a man in whom a spastic paraparesis and a mental deterioration appeared at the age of 30 years. A biological adrenal deficiency was found: plasma cortisol and urinary 17-hydroxy-steroids and 17-ketosteroids failed to increase after synacthen stimulation; plasma ACTH level was above normal. Since two nephews of the patient suffered from adrenoleukodystrophy, the same disease is likely in the reported patient.
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Growth hormone secretion has been evaluated in patients with Addison's disease given T.R.H., A.C.T.H. or Glucagon i.v., or L-DOPA p.o. In those with the idiopathic, auto-immune variety the mean response to glucagon and L-DOPA was reduced when compared with that documented for patients in whom tuberculosis caused the lesion. Growth hormone plasma concentrations barely changed after T.R.H. and A.C.T.H., irrespective of the aetiology of the disease.
A 32-year-old primigravida with primary Addison's disease was followed up from the early stages of pregnancy to delivery and puerperium by a multidisciplinary medical board. Besides fetal surveillance, great attention was given to steroid replacement therapy in order to avoid complications. Vaginal labor resulted in the birth of a healthy neonate that performed well.
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One hundred fifty years since Thomas Addison's original description of the disease, it is not commonly appreciated that patients with Addison's disease may present with psychiatric symptoms. A review of the literature indicates that disturbances in mood, motivation, and behavior are associated with Addison's disease. Psychosis occurs less frequently, but can be the presenting symptom of a life-threatening adrenal crisis. Potential mechanisms for the neuropsychiatric symptoms of Addison's disease include electrophysiological, electrolyte and metabolic abnormalities, glucocorticoid deficiency, increased endorphins, and an associated Hashimoto encephalopathy. Physicians must be aware that Addison's disease may present solely with psychiatric symptoms and maintain a high index of suspicion for this potentially fatal condition.