ISSN: 1308-5727 | E-ISSN: 1308-5735
Volume: 16 Issue: 1 Year: 2024

Abstracting & Indexing
Turkish Society for Pediatric Endocrinology and Diabetes
Pediatric Primary Adrenal Insufficiency: A 21-year Single Center Experience [J Clin Res Pediatr Endocrinol]
J Clin Res Pediatr Endocrinol. 2021; 13(1): 88-99 | DOI: 10.4274/jcrpe.galenos.2020.2020.0132

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

Emine Çamtosun1, İsmail Dündar2, Ayşehan Akıncı1, Leman Kayaş1, Nurdan Çiftçi1
1İnönü University Faculty of Medicine, Department of Pediatric Endocrinology, Malatya, Turkey
2Malatya Training and Research Hospital, Clinic of Pediatric Endocrinology, Malatya, Turkey

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

Emine Çamtosun, İsmail Dündar, Ayşehan Akıncı, Leman Kayaş, Nurdan Çiftçi. Pediatric Primary Adrenal Insufficiency: A 21-year Single Center Experience. J Clin Res Pediatr Endocrinol. 2021; 13(1): 88-99
Manuscript Language: English
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