ESPE Abstracts

Introduction: Adrenal insufficiency is relatively rare in childhood and adolescence. Signs and symptoms may be non specific; therefore, the diagnosis may not be suspected early in the course. It may be categorized as primary or secondary and congenital or acquired. Many etiologies have been reported worldwide of which CAH was the commonest etiology in children.

Objective and hypotheses: To determine the clinical features and evolution of childhood primary adrenal insuffiency in our centre.

Methods: Longitudinal retrospective study of patients diagnosed with primary adrenal insufficiency (PAI) from January 2005 to December 2019. Clinical features at presentation as well as the possible etiology were described, investigations and management.

Result: Between 2005 and 2019, 50 patients (36 girls, 14 boys) were followed for a mean (range) duration of 7.5 [1-14] years. Mean age at diagnosis and start of treatment was 16.3[0.4-60] months. Consanguinity was present in 28(56%) of cases, and there were 7 familial cases (14%). Of 22 cases presented CAH (44 %), 14 (64 %) had virilized genitalia (females), 4 boys were diagnosed after salt wasting crisis, 4 cases had presented signs of androgen excess. Of the 28 cases presented other etiologies, symptoms at presentation included hyperpigmentation, fatigability, abdominal pain, diarrhea vomiting and shock. Delay in diagnosis was observed in 13 cases (46 %). Aetiology was unkown in 9 cases who need a genetic investigation, 8 cases were Allgrove syndrom, 5 cases ACTH résistance including one in neonatal period, ALD in 1 case, autoimmune polyglandular syndrome type 1 in one case, Fraser syndrome in 1 case, and others (3 cases). Mean ACTH at diagnosis was 1746 ± 1731pg/ml. ACTH test have been realized in 8 cases to confirm a diagnosis.17 OHP was high inthe 26 cases with CAH, MRI of brain was necessary in one case, and abdomen ultrasononography in 16 cases. Antibodies investigation is not available in our country.

Conclusion: Adrenal disorders can be difficult to diagnose and are associated with considerable morbidity and mortality if undiagnosed. The clinical and biochemical features at presentation and the natural history of the condition vary depending on which adrenal steroids are affected, as well as the underlying pathological condition. Although a specific diagnosis can be reached in many children and young people with PAI, sometimes the cause remains unknown. Our experience underlines the need to estabilish links with centres which are able to carry out the necessary genetic analyses in our patients.