Original Article

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

10.4274/jcrpe.galenos.2020.2020.0132

  • Emine Çamtosun
  • İsmail Dündar
  • Ayşehan Akıncı
  • Leman Kayaş
  • Nurdan Çiftçi

Received Date: 22.06.2020 Accepted Date: 26.08.2020 J Clin Res Pediatr Endocrinol 0;0(0):0-0 [e-Pub] PMID: 32938577

Background:

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

Methods:

We retrospectively evaluated patients aged 0-18 years who were diagnosed with PAI between 1998 and 2019 in a tertiary care hospital. 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 (FGD; n=3), Triple A syndrome (TAS; n=5), autoimmune adrenalitis (n=1), adrenal hypoplasia congenital (AHC; 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%), hypoglycemia symptoms (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. Novel p.Q301* hemizygous frameshift mutation of the DAX1 gene was identified in one patient.

Conclusion:

We determined etiologies 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. Nowadays, advanced molecular analyse can be utilized to establish a specific genetic diagnosis of PAI for patients who have no specific diagnostic features.

Keywords: Primary adrenal insufficiency, pediatric