-
BMJ Case Reports Mar 2021A 41-year-old man presented with vomiting and loose stools. He had a history of long-term intermittent fever, generalised skin hyperpigmentation, dragging sensation in...
A 41-year-old man presented with vomiting and loose stools. He had a history of long-term intermittent fever, generalised skin hyperpigmentation, dragging sensation in the left hypochondrium and unintentional weight loss. He was receiving combination antiretroviral therapy since 2010 for HIV infection. He also received antitubercular therapy for tuberculous spondylitis. During the hospital stay, he was found to have postural hypotension, hypoglycaemia, hyponatraemia, hyperkalaemia, pancytopenia, hypothyroidism, hyperglobulinaemia and hypoalbuminaemia with reversal of serum albumin/globulin ratio. The morning plasma cortisol was lower than normal and could not be appropriately stimulated after the Synacthen test. The bone marrow histopathology was suggestive of visceral leishmaniasis. He was diagnosed as a case of visceral leishmaniasis and HIV coinfection with primary adrenal insufficiency (Addison's disease) and primary hypothyroidism, as a rare and unusual presentation.
Topics: Addison Disease; Adult; Coinfection; HIV Infections; Humans; Hydrocortisone; Hypothyroidism; Leishmaniasis, Visceral; Male
PubMed: 33674291
DOI: 10.1136/bcr-2020-238488 -
Clinical Medicine (London, England) Mar 2020
Topics: Addison Disease; Humans
PubMed: 32409361
DOI: 10.7861/clinmed.20-2-s39 -
Endokrynologia Polska 2017A 36-year-old woman was found to have a low morning ACTH concentration despite a history of Addison's disease. Past medical history: At the age of 23 years the subject...
UNLABELLED
A 36-year-old woman was found to have a low morning ACTH concentration despite a history of Addison's disease. Past medical history: At the age of 23 years the subject developed Graves's disease, which was treated with radioiodine. At about the same time, she claimed to have two episodes of pancreatitis treated with cholecystectomy. About seven months later she was euthyroid on L-thyroxine (TSH 1.51 mIU/mL) but was admitted with hypotension, hyponatraemia (sodium 109 mmol/L), and low morning cortisol (119 nmol/L). Further investigations confirmed primary adrenal failure with ACTH concentration of 779 pg/mL (ref. range 0-60) prior to the dose of hydrocortisone. About nine years later she complained about tiredness. Clinically she was normotensive and not pigmented. BMI 22.3 kg/m². Periods were regular. ACTH concentration was surprisingly low (ACTH 8.53 pg/mL, ref. range 0-46), despite very low cortisol (3.37 nmol/L). She was admitted for further assessment.
INVESTIGATIONS
Pituitary MRI scan was unremarkable. An insulin tolerance test was performed and showed a clear increase of ACTH (from 15.2 to 165 pg/mL). There was, however, hardly any increase of ACTH after CRH stimulation (from 6.05 pg/mL to 10.2 pg/mL), thus demonstrating central CRH resistance. In summary, this patient developed secondary adrenal failure in the setting of previous Addison's disease. Interestingly, hypoglycaemia (but not CRH) provided a stimulus for ACTH release, thus demonstrating CRH resistance. The case confirms that besides CRH, other factors are responsible for stimulation of the ACTH-cortisol axis during insulin tolerance test.
Topics: Addison Disease; Adrenal Insufficiency; Adult; Corticotropin-Releasing Hormone; Female; Humans; Pituitary Gland
PubMed: 28819949
DOI: 10.5603/EP.2017.0052 -
The Medical Journal of Malaya Dec 1971
Topics: Addison Disease; Amenorrhea; Autoimmune Diseases; Female; Humans; Middle Aged; Thyroid Gland
PubMed: 4260861
DOI: No ID Found -
Clinical Endocrinology May 2012Autoantibodies to 21-hydroxylase (21OH-AA) precede onset of autoimmune Addison's disease (AD). Progression to AD can take months to years, and early detection of...
CONTEXT
Autoantibodies to 21-hydroxylase (21OH-AA) precede onset of autoimmune Addison's disease (AD). Progression to AD can take months to years, and early detection of metabolic decompensation may prevent morbidity and mortality.
OBJECTIVE
To define optimal methods of predicting progression to overt AD (defined by subnormal peak cortisol response to Cosyntropin) in 21OH-AA+ individuals.
DESIGN, SETTING AND PARTICIPANTS
Individuals were screened for 21OH-AA at the Barbara Davis Center from 1993 to 2011. Subjects positive for 21OH-AA (n = 87) were tested, and the majority prospectively followed for the development of Addison's disease, including seven diagnosed with AD upon 21OH-AA discovery (discovered), seven who progressed to AD (progressors) and 73 nonprogressors.
MAIN OUTCOME MEASURED
Plasma renin activity (PRA), ACTH, baseline cortisol, peak cortisol and 21OH-AA were measured at various time points relative to diagnosis of AD or last AD-free follow-up.
RESULTS
Compared with nonprogressors, in the time period 2 months-2 years prior to the onset of AD, progressors were significantly more likely to have elevated ACTH (11-22 pM, P < 1E-4), with no significant differences in mean PRA (P = 0·07) or baseline cortisol (P = 0·08), and significant but less distinct differences seen with 21OH-AA levels (P < 1E-4) and poststimulation cortisol levels (P = 6E-3).
CONCLUSION
Moderately elevated ACTH is a more useful early indicator of impending AD than 21OH-AA, PRA or peak cortisol, in the 2 months-2 years preceding the onset of AD.
Topics: Addison Disease; Adolescent; Adrenocorticotropic Hormone; Autoantibodies; Biomarkers; Disease Progression; Follow-Up Studies; Humans; Hydrocortisone; Predictive Value of Tests; Prognosis; Renin; Steroid 21-Hydroxylase; Time Factors; Young Adult
PubMed: 22066755
DOI: 10.1111/j.1365-2265.2011.04276.x -
Scandinavian Journal of Immunology Nov 2020The new era of immune and reconstitution therapy of autoimmune disorders is ongoing. However, endocrine autoimmune diseases comprise a group of elaborating pathologies... (Review)
Review
The new era of immune and reconstitution therapy of autoimmune disorders is ongoing. However, endocrine autoimmune diseases comprise a group of elaborating pathologies where the development of new treatment strategies remains slow. Substitution of the missing hormones is still standard practice, taking care of the devastating symptoms but not the cause of disease. As our knowledge of the genetic contribution to the aetiology of endocrine disorders increases and early diagnostic tools are available, it is now possible to identify persons at risk before they acquire full-blown disease. This review summarizes current knowledge and treatment of endocrine autoimmune disorders, focusing on type 1 diabetes, Addison's disease, autoimmune thyroid diseases and primary ovarian insufficiency. We explore which new therapies might be used in the different stages of the disease, focus on legalized therapy and elaborate on the ongoing clinical studies for these diseases and the research front, before hypothesizing on the way ahead.
Topics: Addison Disease; Autoimmune Diseases; Diabetes Mellitus, Type 1; Endocrine System Diseases; Female; Humans; Immunotherapy; Models, Immunological; Primary Ovarian Insufficiency; Thyroid Diseases
PubMed: 32853446
DOI: 10.1111/sji.12961 -
Journal of Medical Case Reports Mar 2021Primary adrenal insufficiency (Addison's disease) is a rare medical condition usually associated with hyperkalemia or normokalemia. We report a rare case of Addison's...
BACKGROUND
Primary adrenal insufficiency (Addison's disease) is a rare medical condition usually associated with hyperkalemia or normokalemia. We report a rare case of Addison's disease, coexisting with hypokalemia, requiring treatment.
CASE PRESENTATION
In this case, a 42-year-old man was admitted to the intensive care unit with a history of loss of consciousness and severe hypoglycemia. His blood tests showed metabolic acidosis, low concentrations of cortisol 6 nmol/L (normal 68-327 nmol/L), and high plasma adrenocorticotropic hormone 253 pmol/L (normal 1.6-13.9 pmol/L), and he was diagnosed with primary adrenal insufficiency. Surprisingly, his serum potassium was low, 2.3 mmol/L (normal 3.5-5.1 mmol/L), requiring replacement over the course of his admission. Computed tomography scan of the adrenal glands showed features suggestive of unilateral adrenal tuberculosis. Investigations confirmed renal tubulopathy. The patient responded favorably to cortisol replacement, but never required fludrocortisone.
CONCLUSIONS
Coexistence of hypokalemia with Addison's disease is unusual. We recommend investigation of the cause of hypokalemia in its own right, if it occurs with primary adrenal insufficiency.
Topics: Addison Disease; Adrenal Glands; Adult; Fludrocortisone; Humans; Hydrocortisone; Hypokalemia; Male
PubMed: 33761983
DOI: 10.1186/s13256-021-02724-6 -
Archives of Endocrinology and Metabolism 2017Oral melanoacanthoma is a mucocutaneous, pigmented, rare, benign, and probably reactive lesion. This paper reports for the first time in the literature a case of...
Oral melanoacanthoma is a mucocutaneous, pigmented, rare, benign, and probably reactive lesion. This paper reports for the first time in the literature a case of multifocal oral melanoacanthoma in a patient diagnosed with Addison's disease and concomitant Graves' disease with hyperthyroidism. The patient presented with oral pigmented lesions, which were hypothesized to be mucosal pigmentation associated with Addison's disease. Due to their unusual clinical pattern, these oral lesions were biopsied and diagnosed as oral melanoacanthoma on histopathology and immunohistochemistry for HMB-45. At the moment of this report, the patient was being treated for her systemic conditions, but the lesions had not regressed. Reactive hyperpigmentation of the skin and mucous membranes may be found in Addison's disease and hyperthyroidism. This case reinforces the hypothesis of a reactive nature for oral melanoacanthoma and highlights the need for investigation of endocrine disorders in patients with multifocal oral melanoacanthoma.
Topics: Acanthoma; Addison Disease; Biopsy; Female; Graves Disease; Humans; Hyperpigmentation; Middle Aged; Mouth Neoplasms; Skin Neoplasms
PubMed: 28658350
DOI: 10.1590/2359-3997000000273 -
European Journal of Endocrinology Apr 2021The most common cause of primary adrenal failure (Addison's disease) in the Western world is autoimmunity characterized by autoantibodies against the steroidogenic...
BACKGROUND
The most common cause of primary adrenal failure (Addison's disease) in the Western world is autoimmunity characterized by autoantibodies against the steroidogenic enzyme 21-hydroxylase (CYP21A2, 21OH). Detection of 21OH-autoantibodies is currently used for aetiological diagnosis, but how levels of 21OH-autoantibodies vary over time is not known.
SETTING
Samples from the national Norwegian Addison's Registry and Biobank established in 1996 (n = 711). Multi-parameter modelling of the course of 21OH-autoantibody indices over time.
RESULTS
21OH-autoantibody positivity is remarkably stable, and >90% of the patients are still positive 30 years after diagnosis. Even though the antibody levels decline with disease duration, it is only rarely that this downturn reaches negativity. 21OH-autoantibody indices are affected by age at diagnosis, sex, type of Addison's disease (isolated vs autoimmune polyendocrine syndrome type I or II) and HLA genotype.
CONCLUSION
21OH-autoantibodies are reliable and robust markers for autoimmune Addison's disease, linked to HLA risk genotype. However, a negative test in patients with long disease duration does not exclude autoimmune aetiology.
Topics: Addison Disease; Adolescent; Adult; Autoantibodies; Biomarkers; Cohort Studies; Female; Humans; Male; Middle Aged; Steroid 21-Hydroxylase; Young Adult
PubMed: 34665570
DOI: 10.1530/EJE-20-1268 -
Medicina (Kaunas, Lithuania) Dec 2022The article presents a male patient with adrenocortical insufficiency in the course of antiphospholipid syndrome (APS). It also describes recurrent exacerbations of his... (Review)
Review
The article presents a male patient with adrenocortical insufficiency in the course of antiphospholipid syndrome (APS). It also describes recurrent exacerbations of his clinical status, characteristic of microangiopathic antiphospholipid syndrome (MAPS) which had been misdiagnosed as a disseminated intravascular coagulopathy (DIC) syndrome due to sepsis with multi-organ failure, including heart, kidneys, and liver. Issues related to pathogenesis, clinical symptoms, differential diagnosis, and treatment of APS in the context of presently distinguished subtypes of this syndrome have been addressed. The role of vascular endothelial cell activation and the influence of coagulation patterns on the development of APS continuum clinical symptoms have also been mentioned. In addition, this paper highlights that the diagnosis of APS should be considered in patients with adrenal insufficiency and abdominal pain, even without any prior history of thromboembolic diseases, as well as in the course of DIC, especially without predisposing factors.
Topics: Humans; Male; Antiphospholipid Syndrome; Addison Disease; Adrenal Insufficiency; Vascular Diseases; Capillaries
PubMed: 36676628
DOI: 10.3390/medicina59010004