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. 2021 Feb 26;13(1):88-99.
doi: 10.4274/jcrpe.galenos.2020.2020.0132. Epub 2020 Sep 17.

Pediatric Primary Adrenal Insufficiency: A 21-year Single Center Experience

Emine Çamtosun  1 , İsmail Dündar  2 , Ayşehan Akıncı  1 , Leman Kayaş  1 , Nurdan Çiftci  1
Affiliations

Pediatric Primary Adrenal Insufficiency: A 21-year Single Center Experience

Emine Çamtosun et al. J Clin Res Pediatr Endocrinol. .

Abstract

Objective: Primary adrenal insufficiency (PAI) is a rare but potentially life-threatening condition. In childhood, PAI is usually caused by monogenic diseases. Although congenital adrenal hyperplasia (CAH) is the most common cause of childhood PAI, numerous non-CAH genetic causes have also been identified.

Methods: Patients aged 0-18 years and diagnosed with PAI between 1998 and 2019 in a tertiary care hospital were retrospectively evaluated. After the etiologic distribution was determined, non-CAH PAI patients were evaluated in detail.

Results: Seventy-three PAI patients were identified. The most common etiology was CAH (69.9%, n=51). Non-CAH etiologies accounted for 30.1% (n=22) and included adrenoleukodystrophy (ALD; n=8), familial glucocorticoid deficiency (n=3), Triple A syndrome (n=5), autoimmune adrenalitis (n=1), adrenal hypoplasia congenital (n=1), IMAGe syndrome (n=1), and other unknown etiologies (n=3). The median age at the time of AI diagnosis for non-CAH etiologies was 3.52 (0.03-15.17) years. The most frequent symptoms/clinical findings at onset were hyperpigmentation of skin (81.8%), symptoms of hypoglycemia (40.9%), and weakness/fatigue (31.8%). Hypoglycemia (50.0%), hyponatremia (36.4%) and hyperkalemia (22.7%) were prominent biochemical findings. Diagnosis of specific etiologies were proven genetically in 13 of 22 patients. A novel p.Q301* hemizygous frameshift mutation of the DAX1 gene was identified in one patient.

Conclusion: Etiology was determined in 86.3% of children with non-CAH PAI through specific clinical and laboratory findings with/ without molecular analysis of candidate genes. ALD was the most common etiology. Currently, advanced molecular analysis can be utilized to establish a specific genetic diagnosis for PAI in patients who have no specific diagnostic features.

Keywords: Primary adrenal insufficiency; pediatric; etiology.

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Figures

Figure 1
Figure 1
DNA sequence analysis of the patient with adrenal hypoplasia congenital
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