Assessment of autoantibodies against 21-hydroxylase in the diagnosis of primary autoimmune adrenal insufficiency

2020 ◽  
Author(s):  
Leila Sozaeva ◽  
Nadezhda Makazan ◽  
Larisa Nikankina ◽  
Natalya Malysheva ◽  
Ekaterina Kuvaldina ◽  
...  
Keyword(s):  
Adrenal Insufficiency ◽  
Patient Survival ◽  
Adrenal Crisis ◽  
Primary Adrenal Insufficiency ◽  
Adrenal Steroidogenesis ◽  
Threatening Condition ◽  
Life Threatening ◽  
The One

Primary adrenal insufficiency is manifested by a deficiency of adrenal cortex hormones and can lead to a life-threatening condition. Early diagnosis is key to patient survival. Auto-antibodies to one of the adrenal steroidogenesis enzymes, 21-hydroxylase, are an immunological marker of autoimmune adrenal insufficiency. On the one hand, the study of antibodies to 21-hydroxylase is a method that helps establish the etiology of the disease the autoimmune genesis of adrenal gland damage. On the other hand, the determination of autoantibodies to 21-hydroxylase is the only prognostic factor of the risk of adrenal insufficiency, which makes it possible to prevent the development of acute adrenal crisis. The article provides a brief literature review on autoantibodies to 21-hydroxylase and the pathogenesis of autoimmune adrenal insufficiency, and a series of clinical cases that illustrates the significant role of autoantibodies to 21-hydroxylase in diagnosis of adrenal insufficiency.

scholarly journals Primary adrenal insufficiency in adult population: a Portuguese Multicentre Study by the Adrenal Tumours Study Group

2017 ◽  
Vol 6 (8) ◽  
pp. 935-942 ◽  
Author(s):  
Lia Ferreira ◽  
João Silva ◽  
Susana Garrido ◽  
Carlos Bello ◽  
Diana Oliveira ◽  
...  
Keyword(s):  
Adrenal Insufficiency ◽  
Adult Population ◽  
Serum Cortisol ◽  
High Plasma ◽  
Adrenal Crisis ◽  
Primary Adrenal Insufficiency ◽  
Electrolyte Disturbances ◽  
Threatening Condition ◽  
Life Threatening ◽  
Portuguese Study

Introduction Primary adrenal insufficiency (PAI) is a rare but severe and potentially life-threatening condition. No previous studies have characterized Portuguese patients with PAI. Aims To characterize the clinical presentation, diagnostic workup, treatment and follow‐up of Portuguese patients with confirmed PAI. Methods This multicentre retrospective study examined PAI patients in 12 Portuguese hospitals. Results We investigated 278 patients with PAI (55.8% were females), with a mean age of 33.6 ± 19.3 years at diagnosis. The most frequent presenting clinical features were asthenia (60.1%), mucocutaneous hyperpigmentation (55.0%) and weight loss (43.2%); 29.1% of the patients presented with adrenal crisis. Diagnosis was established by high plasma ACTH and low serum cortisol in most patients (43.9%). The most common aetiology of PAI was autoimmune adrenalitis (61.0%). There were 38 idiopathic cases. Autoimmune comorbidities were found in 70% of the patients, the most frequent being autoimmune thyroiditis (60.7%) and type 1 diabetes mellitus (17.3%). Seventy-nine percent were treated with hydrocortisone (mean dose 26.3 ± 8.3 mg/day) mostly in three (57.5%) or two (37.4%) daily doses. The remaining patients were treated with prednisolone (10.1%), dexamethasone (6.2%) and methylprednisolone (0.7%); 66.2% were also on fludrocortisone (median dose of 100 µg/day). Since diagnosis, 33.5% of patients were hospitalized for disease decompensation. In the last appointment, 17.2% of patients had complaints (7.6% asthenia and 6.5% depression) and 9.7% had electrolyte disturbances. Conclusion This is the first multicentre Portuguese study regarding PAI. The results emphasize the need for standardization in diagnostic tests and etiological investigation and provide a framework for improving treatment.

scholarly journals Acute Primary Adrenal Insufficiency after Hip Replacement in a Patient with Acute Intermittent Porphyria

2018 ◽  
Vol 2018 ◽  
pp. 1-4
Author(s):  
Adele Latina ◽  
Massimo Terzolo ◽  
Anna Pia ◽  
Giuseppe Reimondo ◽  
Elena Castellano ◽  
...  
Keyword(s):  
Postmenopausal Woman ◽  
Adrenal Insufficiency ◽  
Replacement Therapy ◽  
Genetic Disease ◽  
Hip Replacement ◽  
Acute Intermittent Porphyria ◽  
Adrenal Hemorrhage ◽  
Primary Adrenal Insufficiency ◽  
Threatening Condition ◽  
Life Threatening

Adrenal insufficiency is a potentially life-threatening condition when it occurs acutely, as in adrenal hemorrhage. Generally it is not reversible and requires chronic replacement therapy. Acute intermittent porphyria (AIP) is a rare genetic disease characterized by alterations in heme biosynthesis that result in accumulation of precursors in tissues. A crisis can be triggered by many conditions such as surgery and infections. Symptoms are similar to those of acute hypoadrenalism. Moreover, both conditions are characterized by hyponatremia. We describe the case of a postmenopausal woman known to be affected by AIP who developed after surgery a primary adrenal insufficiency associated with adrenal enlargement; the latter completely reverted in six months.

Perioperative Adrenal Crisis

2017 ◽  
Author(s):  
Jing Tao ◽  
Jeffrey J. Schwartz
Keyword(s):  
Adrenal Insufficiency ◽  
Adrenal Crisis ◽  
Life Saving ◽  
Distributive Shock ◽  
Threatening Condition ◽  
Life Threatening ◽  
High Doses ◽  
Patient At Risk ◽  
Stress Dose ◽  
Timely Treatment

Perioperative adrenal insufficiency (AI) (adrenal crisis) is an uncommon life-threatening condition manifested by distributive shock that is poorly responsive to the administration of fluids and vasopressors. Timely treatment with high doses of glucocorticoids can be life saving. The difficulty is in recognizing the patient at risk, suspecting the diagnosis, and distinguishing it from other forms of shock. The incidence of adrenal crisis is rare, in large part, due to the liberal use of perioperative “stress dose” steroids in patients already receiving steroids. In this chapter we review the pathophysiology involved in both primary and secondary AI, and provide step-by-step treatment recommendations for patients as risk for this condition.

scholarly journals Challenging Diagnosis of Addison’s Disease Presenting with Adrenal Crisis

2021 ◽  
Vol 2021 ◽  
pp. 1-6
Author(s):  
Ni Wayan Wina Dharmesti ◽  
Made Ratna Saraswati ◽  
Ketut Suastika ◽  
Wira Gotera ◽  
I Made Pande Dwipayana
Keyword(s):  
Adrenal Insufficiency ◽  
Adrenal Cortex ◽  
Addison’S Disease ◽  
Adrenal Crisis ◽  
Addison's Disease ◽  
Rapid Progression ◽  
Circulatory Collapse ◽  
Emergency Ward ◽  
Primary Adrenal Insufficiency ◽  
Life Threatening

Primary adrenal insufficiency, also known as Addison’s disease, is a rare but potentially fatal condition resulting from the failure of the adrenal cortex to produce glucocorticoid and/or mineralocorticoid hormones. Unfortunately, the clinical manifestation of primary adrenal insufficiency is not specific and often progresses insidiously, resulting in late diagnosis, or in severe cases, life-threatening circulatory collapse. Adrenal insufficiency should be considered in patients with unexplained vascular collapse. We report the case of a woman who presented to the emergency ward with unexplainable shock that was later diagnosed as adrenal crisis due to Addison’s disease. The presence of hyperpigmentation in patients with rapid progression of adrenal insufficiency suggests the diagnosis of Addison’s disease presenting with adrenal crisis.

scholarly journals Type II polyglandular autoimmune syndrome: a case of Addison’s disease precipitated by use of levothyroxine

2019 ◽  
Vol 12 (8) ◽  
pp. e230760 ◽  
Author(s):  
Katherine Hoener ◽  
Tulsi Sharma
Keyword(s):  
Adrenal Insufficiency ◽  
Autoimmune Disorder ◽  
Adrenal Crisis ◽  
Antibody Treatment ◽  
Primary Adrenal Insufficiency ◽  
Polyglandular Autoimmune Syndrome ◽  
Autoimmune Syndrome ◽  
Life Threatening ◽  
Endocrinology Clinic

A 46-year-old woman was referred to the endocrinology clinic for evaluation of progressive fatigue, dizziness and treatment-resistant hypothyroidism. Initial laboratory results revealed hypothyroidism, hyponatraemia and hyperkalaemia. Liothyronine sodium (Cytomel) was initiated, which exacerbated her fatigue and dizziness. Suspecting adrenal insufficiency, an 08:00 cortisol level was obtained and found to be low with failure to increase following cosyntropin stimulation test. Diagnosis of primary adrenal insufficiency was confirmed via CT abdomen and pelvis revealing diminutive adrenal glands and elevated 21-hydroxylase antibody. Treatment was initiated with hydrocortisone 10 mg every morning and 5 mg at 16:00/day, with plan for patient follow-up in 3 weeks to assess need for mineralocorticoid replacement. Polyglandular syndromes are rare and have a wide variety of presentation. Thus, we recommend screening patients with a single autoimmune disorder who do not respond to conventional therapy to prevent possible life-threatening adrenal crisis.

scholarly journals A Rare Case of Autoimmune Polyglandular Syndrome Type 2 in a Child With Persistent Fatigue

2019 ◽  
Vol 6 ◽  
pp. 2333794X1984507 ◽  
Author(s):  
Ryan Kenneth Smith ◽  
Peter M. Gerrits
Keyword(s):  
Adrenal Insufficiency ◽  
Autoimmune Polyglandular Syndrome ◽  
Threatening Condition ◽  
Viral Illness ◽  
Persistent Fatigue ◽  
Life Threatening ◽  
Local Emergency Department ◽  
Autoimmune Polyglandular Syndrome Type ◽  
High Index Of Suspicion

Adrenal insufficiency is a rare, potentially life-threatening condition whose diagnosis requires a high index of suspicion. Adrenal insufficiency may be primary, secondary, or tertiary with varied etiologies. Primary insufficiency may be part of a cluster of autoimmune diseases, referred to as autoimmune polyglandular syndrome(s) (APS). We describe a case of a 15-year-old male who presents to a local emergency department complaining of fatigue, fever, abdominal pain, nausea, and vomiting for a few days with a preceding viral illness. The patient was hyponatremic and hyperkalemic with skin hyperpigmentation, raising concern for adrenal insufficiency. Laboratory workup confirmed autoimmune primary adrenal insufficiency, with subsequent laboratory studies revealing autoimmune thyroiditis and celiac disease. Concomitant Addison’s and Hashimoto’s diseases led to a diagnosis of APS type 2. The patient was started on steroid replacement with rapid clinical improvement.

IMPORTANCE OF ANTIBODIES TO 21-HYDROXYLASE FOR THE DIAGNOSIS, DIFFERENTIAL DIAGNOSIS AND PROGNOSIS OF AUTOIMMUNE CHRONIC PRIMARY ADRENAL INSUFFICIENCY

2021 ◽  
Vol 100 (2) ◽  
pp. 78-86
Author(s):  
L.S. Sozaeva ◽  
◽  
N.V. Makazan ◽  
L.V. Nikankina ◽  
N.M. Malysheva ◽  
...  
Keyword(s):  
Differential Diagnosis ◽  
Adrenal Insufficiency ◽  
Predictive Value ◽  
Primary Adrenal Insufficiency ◽  
Polyglandular Autoimmune Syndrome ◽  
Diagnosis And Prognosis ◽  
Specificity And Sensitivity ◽  
Enzymelinked Immunosorbent Assay

21-hydroxylase (21-OH) is the main antigen of the adrenal cortex, so the determination of antibodies (Ab) to 21-OH can help in the diagnosis and prognosis of chronic primary adrenal insufficiency (CPAI). Purpose of the study: evaluation of the relevance of Ab to 21-OH for the diagnosis and prediction of autoimmune CPAI. Materials and methods of research: the study consisted of three blocks: 1) assessment of the specificity and sensitivity, as well as the prognostic potential of Ab to 21-OH in patients with polyglandular autoimmune syndrome (APS) – individuals with APS type 1 with and without CPAI (n=106); 2) assessment of the dynamics of the level of Ab to 21-OH – patients with autoimmune CPAI were included (n=41); 3) assessment of the significance of Ab data for the differential diagnosis of various forms of CPAI, including patients with CPAI and APS type 1 exclusion (n=30). The study of Ab to 21-hydroxylase was performed using enzymelinked immunosorbent assay (BioVendor kits, Czech Republic). Results: statistically significant differences were obtained in the frequency of detection of Ab to 21-OH in patients with or without PCNI (p<0,001). The sensitivity of the method was 96%, specificity was 75%, a positive predictive value was 90%, and the negative predictive value was 89%. In 83% of patients, the level of Ab decreased with time (median size decreases – 20,4%/year). An inverse relationship was also found between the level of Ab and the duration of the course of CPAI (R=–0,460, p<0,001). In a group of 30 patients with CPAI and with exclusion of APS type 1, 21 were found to have Ab to 21-OH, only one of them had a monogenic non-autoimmune cause of CPAI (a mutation in the MC2R gene). Monogenic forms of CPAI were found in another 7 patients (mutations were found in the DAX1 and ABCD1 genes), among them an increase in Ab to 21-OH was not detected. Conclusion: determination of Ab to 21-OH is a specific and sensitive method for the diagnosis of autoimmune CPAI. An increase in Ab to 21-OH is a risk marker of autoimmune CPAI development.

scholarly journals Role of SatO2, PaO2/FiO2 Ratio and PaO2 to Predict Adverse Outcome in COVID-19: A Retrospective, Cohort Study

2021 ◽  
Vol 18 (21) ◽  
pp. 11534
Author(s):  
Stefano Sartini ◽  
Laura Massobrio ◽  
Ombretta Cutuli ◽  
Paola Campodonico ◽  
Cristina Bernini ◽  
...  
Keyword(s):  
Respiratory Failure ◽  
Adverse Outcome ◽  
University Hospital ◽  
Rt Pcr ◽  
Threatening Condition ◽  
Life Threatening ◽  
Group A ◽  
Group B ◽  
The University

COVID-19 respiratory failure is a life-threatening condition. Oxygenation targets were evaluated in a non-ICU setting. In this retrospective, observational study, we enrolled all patients admitted to the University Hospital of Genoa, Italy, between 1 February and 31 May 2020 with an RT-PCR positive for SARS-CoV-2. PaO2, PaO2/FiO2 and SatO2% were collected and analyzed at time 0 and in case of admission, patients who required or not C-PAP (groups A and B) were categorized. Each measurement was correlated to adverse outcome. A total of 483 patients were enrolled, and 369 were admitted to hospital. Of these, 153 required C-PAP and 266 had an adverse outcome. Patients with PaO2 <60 and >100 had a higher rate of adverse outcome at time 0, in groups A and B (OR 2.52, 3.45, 2.01, respectively). About the PaO2/FiO2 ratio, the OR for < 300 was 3.10 at time 0, 4.01 in group A and 4.79 in group B. Similar odds were found for < 200 in any groups and < 100 except for group B (OR 11.57). SatO2 < 94% showed OR 1.34, 3.52 and 19.12 at time 0, in groups A and B, respectively. PaO2 < 60 and >100, SatO2 < 94% and PaO2/FiO2 ratio < 300 showed at least two- to three-fold correlation to adverse outcome. This may provide simple but clear targets for clinicians facing COVID-19 respiratory failure in a non ICU-setting.

scholarly journals Adrenal Crisis in Long Term Use of Exogenous Steroid With Inappropriate Tapering off Process

2021 ◽  
Vol 5 (Supplement_1) ◽  
pp. A108-A109
Author(s):  
Nani Oktavia ◽  
Chici Pratiwi ◽  
Jerry Nasaruddin ◽  
Muhammad Ikhsan Mokoagow ◽  
Marina Epriliawati ◽  
...  
Keyword(s):  
Abdominal Pain ◽  
Blood Glucose ◽  
Adrenal Insufficiency ◽  
Clinical Manifestations ◽  
Adrenal Crisis ◽  
High Dose ◽  
Symptomatic Therapy ◽  
Bowel Sound ◽  
Primary Adrenal Insufficiency

Abstract Background: Adrenal crisis is an emergency condition in endocrinology that commonly found in primary adrenal insufficiency but also occur in chronic adrenal insufficiency triggered by various conditions such as sepsis, infection, trauma, burns, surgery, and myocardial infarction. In chronic adrenal insufficiency, adrenal crisis can be induced by excessive reductions or inadequate discontinuation of steroid treatment. Case Illustration: A 40-year old-man admitted with chief complaint abdominal pain since seven days before admission. He felt pain in the umbilical area and slowly radiated to all the part of abdomen. Other than that, he also felt nausea, had vomitus, fever, and constipation for five days. He was immobilized for four months, with muscles weakness and atrophy. He was diagnosed with Focal Segmented Glomerulosclerosis and had a high dose of methylprednisolone (48 mg) for 6 months, 40 mg for the next 2 months and methylprednisolone 12 mg for the last 2 months. The last two month, he began to have severe general weakness and hypotension. On physical examination we found hypotension, fever (38.1o C), pale conjunctiva, moon face, buffalo hump, slightly distended and tenderness of abdomen, normal bowel sound, and purple striae all over the abdomen and extremities. On laboratory examination, Hb was 8.2 (n 11.7 – 15.5 g/dl), leukocytes 10,400 (5.00 – 10.00 x 103/μL), Na 123 (n 135 – 147 mmol/L), random blood glucose 74 (n 70 – 140 mg/dL). On abdominal X ray, there was prominent faecal material and no signs of ileus. No sign of infection found in urinalysis. He had sodium correction, packed red cell transfusion, symptomatic therapy including laxative, methylprednisolone 12 mg, but no improvement of signs and symptoms beside be able to defecate. The abdominal ultrasound gave a normal result. The morning cortisol level was then examined, with the result 14.4 (n 3.7–19.4). The patient was then diagnosed with adrenal crisis based on the clinical manifestations and had hydrocortisone therapy 100 mg a day for 2 consecutive days. After hydrocortisone administration, the symptoms improved, no fever and abdominal pain, he had normotension, increased sodium level 132 (n 135 – 147 mmol/L) and blood glucose level 118 (n 70 – 140 mg/dL). On the third day the patient discharged with oral hydrocortisone 15 mg in the morning and 10 mg in the afternoon. Conclusion: Adrenal crisis was generally found in primary adrenal insufficiency but could also occur in secondary adrenal insufficiency due to inappropriate tapering off process of long term glucocorticoid use.

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