DOI: 10.65092/autfm.1827711 ISSN: 0365-8104

Clinical Evaluation And Treatment Outcomes In Non-Congenital Adrenal Hyperplasia: Insights From Primary And Central Adrenal Insufficiency Patients

Sirmen Kizilcan Cetin, Zeynep Şıklar, Elif Özsu, Zehra Aycan, Aysegul Ceran, Gizem Şenyazar, Seda Erişen Karaca, Sema Nilay Abseyi, Safak Demirtas, Merih Berberoğlu
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Introduction: Adrenal insufficiency is a life-threatening endocrine disorder resulting from impaired cortisol production. It develops due to dysfunction of either the adrenal glands or the hypothalamic–pituitary axis. In children, the etiology and clinical manifestations vary widely, and delays in diagnosis and treatment can lead to significant morbidity. Objective: This study aimed to evaluate the clinical characteristics, etiological distribution, and treatment management of children diagnosed with primary adrenal insufficiency (PAI) and central adrenal insufficiency (CAI), excluding those with congenital adrenal hyperplasia (CAH). Methods: A retrospective analysis was conducted on 56 patients aged 0–18 years with PAI and CAI, followed by our Pediatric Endocrinology Department. Patients with CAH, secondary adrenal insufficiency due to steroid use, adrenal insufficiency from trauma, infections, or incomplete data were excluded. Data on clinical presentation, laboratory results, genetic assessments, and treatment were evaluated. Results: Of the 56 patients (28 males, 28 females), 75% (n=42) had CAI, and 25% (n=14) had PAI. Common etiologies in CAI included craniopharyngioma (n=21), while ACTH resistance (n=6) and APECED (n=5) were prevalent in PAI. The mean age at presentation was 6.99 ± 5.81 years, with PAI patients presenting at a younger median age (3.46 years) compared to CAI patients (6.83 years, p=0.11). Due to the predominance of craniopharyngioma patients, CAI patients had shorter stature (-1.03 ± 1.3 SD, p=0.01) and higher BMI SD scores (0.86 ± 1.72, p=0.007) than PAI patients. PAI patients exhibited higher baseline cortisol levels (7.22 ± 4.73 mcg/dL, p=0.01) and required higher initial hydrocortisone doses (20.88 ± 22.6 mg/m²/day) than CAI patients (11.49 ± 3.79 mg/m²/day, p=0.002). Conclusion: PAI patients presented younger and required higher hydrocortisone doses than CAI patients despite having higher baseline cortisol levels. Fatigue and hypoglycemia were frequent symptoms in PAI, while CAI presentations varied based on etiology.

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