Diverse etiologies, diagnostic approach, and management of primary adrenal insufficiency in pediatric age

Primary adrenal insufficiency (PAI) in pediatric age is a rare, but potentially fatal condition caused by diverse etiologies including biochemical defects of steroid biosynthesis, developmental abnormalities of the adrenal gland, or reduced responsiveness to adrenocorticotropic hormone. Compared to adult PAI, pediatric PAI is more often the result of genetic (monogenic, syndromic disorders) than acquired conditions. During the past decade, rare monogenic disorders associated with PAI have helped unravel the underlying novel molecular genetic mechanism. The diagnosis of adrenal insufficiency in children and young infancy is often challenging, usually based on clinical suspicion and endocrine laboratory findings. Pediatric endocrinologists sometimes encounter therapeutic difficulty in finding the balance between undertreatment and overtreatment, determining how to optimize the dose over the patient’s lifetime, and maximizing mimicry of normal cortisol secretion with glucocorticoid replacement therapy.

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PRIMARY ADRENAL INSUFFICIENCY SECONDARY TO CHRONIC POSACONAZOLE USE

AACE Clinical Case Reports ◽

10.4158/accr-2019-0176 ◽

2020 ◽

Vol 6 (2) ◽

pp. e62-e64

Author(s):

Daniela Pirela Araque ◽

Gabriela Zuniga ◽

Alejandro R. Ayala

Keyword(s):

Computed Tomography ◽

Adrenal Insufficiency ◽

Side Effect ◽

Adrenocorticotropic Hormone ◽

Fungal Infections ◽

Plasma Renin ◽

Primary Adrenal Insufficiency ◽

The Third ◽

Abdominal Computed Tomography ◽

Morning Cortisol

Objective: Posaconazole (PSO) is commonly used in the treatment of invasive fungal infections. PSO-induced primary adrenal insufficiency (PAI) is rare, and we present what we think to be the third case report of its incidence. We want to bring awareness to this rare but significant side effect that can impact management and monitoring of patients on this medication. Methods: After clinical assessment, the patient was evaluated with diagnostic studies including measurements of cortisol, adrenocorticotropic hormone, renin activity, and aldosterone levels. Imaging studies such as abdominal computed tomography were also performed. Results: A 65-year-old man with a history of hemophagocytic lymphohistiocytosis on a dexamethasone taper, complicated with mucormycosis on PSO presented to the emergency department with weakness, fatigue, decreased appetite, orthostatic hypotension, low morning cortisol (0.4 μg/dL), low adrenocorticotropic hormone (3.4 pg/mL), elevated plasma renin (16.7 ng/mL/hour), and low-normal aldosterone (1.7 ng/dL). Abdominal computed tomography imaging revealed bilaterally intact adrenal glands. A diagnosis of PSO-induced PAI was made. Fludrocortisone was initiated in addition to glucocorticoids with improvement of fatigue, appetite, blood pressure, and normalization of sodium and potassium. A month after discontinuing PSO, steroids and fludrocortisone were discontinued with measured morning cortisol of 13 μg/dL and an adrenocorticotropic hormone level of 53.9 pg/mL, both normal. Conclusion: Available data suggest that the adverse effect profile of PSO is more favorable than other triazoles. However, our case is the third report suggesting that PAI may be an underrecognized side effect. Awareness of this complication is particularly important in patients with severe or resistant fungal infections.

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Primary adrenal insufficiency due to adrenal tuberculosis: a case report

Journal of International Medical Research ◽

10.1177/0300060520980590 ◽

2020 ◽

Vol 48 (12) ◽

pp. 030006052098059

Author(s):

Jie Yu ◽

Yingli Lu ◽

Bing Han

Keyword(s):

Computed Tomography ◽

Adrenal Insufficiency ◽

Adrenocorticotropic Hormone ◽

Spot Test ◽

Active Tuberculosis ◽

Computed Tomography Scan ◽

Primary Adrenal Insufficiency ◽

Skin Hyperpigmentation ◽

History Of ◽

Tomography Scan

We report a case of primary adrenal insufficiency (PAI) due to adrenal tuberculosis with no findings of active tuberculosis in the lung of a 51-year-old female patient. The patient was admitted with a 10-year history of skin hyperpigmentation and was diagnosed with PAI. The primary cause was adrenal tuberculosis. An adrenocorticotropic hormone stimulation test, T-Spot test and adrenal computed tomography scan were used to confirm the diagnosis. The patient’s status improved, and the hyperpigmentation subsided after 15 months of treatment with anti-tuberculosis drugs and cortisol replacement therapy.

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Posaconazole-Induced Adrenal Insufficiency in a Case of Chronic Myelomonocytic Leukemia

Case Reports in Endocrinology ◽

10.1155/2018/2170484 ◽

2018 ◽

Vol 2018 ◽

pp. 1-5 ◽

Cited By ~ 2

Author(s):

Ann Miller ◽

Lauren K. Brooks ◽

Silpa Poola-Kella ◽

Rana Malek

Keyword(s):

Adrenal Insufficiency ◽

Adrenocorticotropic Hormone ◽

Fungal Infections ◽

Failure To Thrive ◽

Chronic Myelomonocytic Leukemia ◽

Direct Inhibition ◽

Primary Adrenal Insufficiency ◽

Morning Cortisol ◽

One Year ◽

Myelomonocytic Leukemia

Introduction. Posaconazole is an azole used in treatment and prophylaxis of a broad spectrum of fungal infections. Antifungals such as ketoconazole have been shown to cause primary adrenal insufficiency (AI) as a result of direct inhibition on the steroidogenesis pathway. There is only one reported case of primary AI induced by posaconazole in a patient with mucormycosis. We report a case of posaconazole-related primary AI. Case. A 63-year-old man with chronic myelomonocytic leukemia was admitted for fatigue and intermittent nausea and vomiting. He had recently discontinued prophylactic posaconazole 300 mg daily. He was assessed for AI with a morning cortisol of 1.9 mcg/dL followed by a failed cosyntropin stimulation (CS) test. Adrenocorticotropic hormone (ACTH) level was 154.6 pg/mL with negative 21-hydroxylase antibodies. The patient’s symptoms improved with initiation of hydrocortisone and fludrocortisone. One year after discontinuation of posaconazole, he underwent a repeat CS test which showed normal adrenal function with normal ACTH at 34.1 pg/mL. Conclusion. In this case, we demonstrate that prolonged use of posaconazole is associated with primary AI. As use of posaconazole increases, knowledge of the potential risk of AI is important and must be included in the differential diagnosis when these patients present with hypotension, hypoglycemia, and failure to thrive.

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Delay in Diagnosis of Adrenal Insufficiency Is a Frequent Cause of Adrenal Crisis

International Journal of Endocrinology ◽

10.1155/2013/482370 ◽

2013 ◽

Vol 2013 ◽

pp. 1-5 ◽

Cited By ~ 22

Author(s):

Lucyna Papierska ◽

Michał Rabijewski

Keyword(s):

Adrenal Insufficiency ◽

Primary Care Physicians ◽

Signs And Symptoms ◽

Adrenal Crisis ◽

Primary Adrenal Insufficiency ◽

Ulcer Disease ◽

Delay In Diagnosis ◽

The Past ◽

Incorrect Diagnosis ◽

Delay Of Diagnosis

Delay of diagnosis of primary adrenal insufficiency (PAI) leads to adrenal crisis which is potentially lethal complication. The objective of our work was an assessment whether the establishment of diagnosis of adrenocortical insufficiency in Poland is so much delayed as assessed in the past. We have analysed data from 60 patients with diagnosis of PAI established in our department during the past 12 years and who are still under our care. We found that the time to diagnosis of primary adrenal insufficiency in Poland exceeds 3 months in every patient and 6 months in patients admitted with symptoms of adrenal crisis. Forty-four percent of patients were diagnosed only just after the hospitalisation due to crisis, despite the evident signs and symptoms of PAI. Lack of appetite and loss of body weight occurred in all patients and for that reason a diagnosis of chronic gastric and duodenal ulcer disease was the most often incorrect diagnosis. After the proper diagnosis and treatment, in the course of 1–11 years of observation, there was only 6 imminent adrenal crises in 5 patients. Our results indicated that training of primary care physicians in the field of recognising and treatment of adrenal insufficiency is still essential.

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