ESPE Abstracts

Primary adrenal insufficiency (PAI) is a rare but life-threatening condition. It is defined as insufficient production or lack of action of glucocorticoids. Congenital adrenal hyperplasia (CAH) is the most common childhood cause, although numerous monogenic causes unrelated to CAH have been identified. Description of the etiology, age at diagnosis, clinical and biochemical characteristics, treatment and genetics of patients diagnosed with PAI between 0-18 years of age reviewed retrospectively in a tertiary hospital. Inclusion criteria: 1) Patients with a clinical and genetic diagnosis of the classic form of CAH. 2)Patients with symptoms of glucocorticoid and/or mineralocorticoid deficiency with ACTH>500pg/ml, morning serum cortisol <5mcg/dL. A total of 55 patients with an equal gender distribution have been included. The most common etiology was CAH (68.4%, n = 39). Non-CAH etiologies (n = 16) were: isolated familial glucocorticoid deficiency (FGD) (n = 8), MIRAGE syndrome (n = 1), adrenoleukodystrophy (n = 2), adrenal hypoplasia due to DAX1 protein deficiency (n = 2) and autoimmune adrenalitis (n = 3); isolated in 2 patients and one patient with type 2 polyglandular syndrome. In the CAH group the most frequent cause was 21-αhydroxylase deficiency n = 32, followed by 11-βhydroxylase n = 6 and 20-22 desmolase n = 1. In the FGD group alterations in the following genes were found: NNT (n = 2), StAR (n = 2), SGPL1 (n = 1) and MC2R (n = 1). The mean age at diagnosis was 1.1±1.22 years. By groups: CAH 0.3±1.1 years and the rest of PAI 3.3±5.5 years. The clinical symptoms/signs at diagnosis were: different sexual development 46,XX n = 23, hyponatraemic dehydration n = 8, septic shock n = 7, asthenia with hyperpigmentation n = 7, hypoglycaemia and early pubarche with n = 2 each. Six patients had prenatal diagnosis of CAH due to affected family members. Mineralocorticoid deficiency was presented in 38 patients. A total of 17 patients did not require treatment with mineralocorticoids (7 FGD, 1 MIRAGE syndrome, 1 Adrenoleukodystrophy, 2 classic forms without salt loss CAH due to 21-αhydroxylase deficiency and 6 CAH due to 11-βhydroxylase deficiency). Nineteen patients had a positive family history (CAH or isolated familial glucocorticoid deficiency). Current glucocorticoid dose (mean±SD) 15±5.8 mg/m2/d. Five patients are in a clinical trial of adrenocorticotropic hormone receptor antagonist. One patient with CAH presented a tumour of testicular adrenal remnants and two with CAH with poor control adrenalectomy was performed. In our series, the most common cause of PAI is CAH followed by isolated familial glucocorticoid deficiency with most patients diagnosed in the neonatal period due to different sexual development 46XX with a similar gender distribution.