Clinicians must be aware of the growing list of causes and predisposing factors that may lead to the life-threatening disorder of acute adrenal insufficiency. This review provides a guide to the recognition and treatment of adrenal insufficiency, whether it is primary or secondary to disease, hereditary disorders, medication use, or critical illness.

/pdf/predisposing-factors-for-adrenal-insufficiency-2bv9n1pdw7.pdf

Predisposing Factors for Adrenal Insufficiency

Background: Primary adrenal insufficiency (PAI) is a rare, potentially life-threatening condition. There are few Korean studies on PAI, and most have had small sample sizes. We aimed to examine the etiology, clinical characteristics, treatment, and mortality of PAI in Korean patients.
Methods: A nationwide, multicenter, registry-based survey was conducted to identify adults diagnosed with or treated for PAI at 30 secondary or tertiary care institutions in Korea between 2000 and 2014.
Results: A total of 269 patients with PAI were identified. The prevalence of PAI was 4.17 per million. The estimated incidence was 0.45 per million per year. The mean age at diagnosis was 49.0 years, and PAI was more prevalent in men. Adrenal tuberculosis was the most common cause of PAI in patients diagnosed before 2000; for those diagnosed thereafter, adrenal metastasis and tuberculosis were comparable leading causes. The etiology of PAI was not identified in 34.9% of cases. Of the patients receiving glucocorticoid replacement therapy, prednisolone was more frequently administered than hydrocortisone (69.4% vs. 26.5%, respectively), and only 27.1% of all patients received fludrocortisone. We observed an increased prevalence of metabolic disease and osteoporosis during the follow-up period (median, 60.2 months). The observed overall mortality and disease-specific mortality rates were 11.9% and 3.1%, respectively.
Conclusion: The prevalence of PAI is significantly lower in Koreans than in reports from Western countries. The high frequency undetermined etiology in patients with PAI suggests the need to reveal accurate etiology of PAI in Korea.

/pdf/characteristics-of-korean-patients-with-primary-adrenal-v8hakiwx0r.pdf

Characteristics of Korean Patients with Primary Adrenal Insufficiency: A Registry-Based Nationwide Survey in Korea

DAX-1 Gene Mutations and Deletions in Japanese Patients with Adrenal Hypoplasia Congenita and Hypogonadotropic Hypogonadism

We report a novel NR0B1 mutation in a patient affected with X-linked adrenal hypoplasia congenita (X-AHC). The proband first presented with a generalized convulsion at 11 years, 4 months. His clinical and biochemical presentations were consistent with adrenal insufficiency. His basal 17-hydroxyprogesterone (17-OHP) level was not high, and the poor response in 17-OHP on ACTH stimulation test excluded congenital adrenal hyperplasia. At 14 years of age, he did not show any signs of puberty, with low levels of LH, FSH, and testosterone and unresponsiveness to lutenizing hormone releasing hormone stimulation test. Direct DNA sequencing revealed that the proband is hemizygous for a novel NR0B1 mutation (c.1177_1180delGGCC, p.Gly393Cysfs*4). The mother is the conductor of the mutation, which is likely pathogenic as the C-terminus truncated protein lacks the activation function-2 (AF2-TA) transactivation domain, which is highly conserved among members of the nuclear receptor superfamily.

Late onset X-linked adrenal hypoplasia congenita with hypogonadotropic hypgonadism due to a novel 4-bp deletion in exon 2 of NR0B1.

Adrenal hypoplasia congenita (AHC) is a rare inherited disorder of the adrenal gland caused by deletion or mutation of the dosage-sensitive sex-reversal AHC critical region on the X chromosome, gene 1 (DAX1) gene. The DAX1 gene is expressed in the adrenal cortex, the pituitary gland, the hypothalamus, the testis, and the ovary. Most affected infants present with failure to thrive, salt wasting, and hypoglycemic seizure in early life. Immediate mineralocorticoid and glucocorticoid replacement is essential. Most boys with AHC present with hypogonadotropic hypogonadism, resulting in failure to enter puberty and the need for testosterone treatment. However, a recent study revealed that the onset of puberty in boys with AHC can be variable, ranging from arrested or absent to precocious. We describe a case involving a newborn who presented with primary adrenal insufficiency due to a mutation of the DAX1 gene and was finally diagnosed with AHC.

http://neo-med.org/upload/pdf/Neonatal Med_23_1_53_58.pdf

Primary Adrenal Insufficiency in a Newborn With Adrenal Hypoplasia Congenita Caused by a Mutation of the DAX1 Gene

Adrenal hypoplasia congenita (AHC) is caused by mutations in the NR0B1 gene on chromosome Xp213-p212 It manifests as X-linked primary adrenal failure in early infancy or childhood and as hypogonadotropic hypogonadism (HHG) at puberty Although studies of AHC patients and mutations in the NR0B1 gene have been reported throughout the world, there has previously been only one other case report from Korea We encountered a 23-year old Korean male with delayedonset AHC/HHG who had been previously diagnosed with adrenal insufficiency of unknown aetiology at age 13 years Delayed puberty and incomplete HHG were observed Direct sequencing of the NR0B1 gene revealed the patient to have a novel insertion mutation (c959_960insT; Leu321ProfsX68) Although AHC is believed to be rare, it should be considered in a differential diagnosis of patients showing late-onset primary adrenal insufficiency

https://journals.sagepub.com/doi/pdf/10.1177/147323000803600220

Clinical and genetic analysis of a Korean patient with late-onset X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism: identification of a novel mutation in the NR0B1 gene.

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Clinical and genetic analysis of a Korean patient with late-onset X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism: identification of a novel mutation in the NR0B1 gene.