1. Primary Adrenal Insufficiency in Childhood: Data From a Large Nationwide Cohort
- Author
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Mariacarolina Salerno, Giuseppa Patti, Mohamad Maghnie, Sara Azzolini, Silvia Longhi, Alessandra di Lascio, Gianni Russo, Corrado Betterle, Giusy Ferro, Carla Bizzarri, Marco Cappa, Giorgio Radetti, Marianna Rita Stancampiano, Mariella Valenzise, Donatella Capalbo, Cristina Moracas, Antonio Balsamo, Nella Augusta Greggio, Malgorzata Wasniewska, Federico Baronio, Capalbo, Donatella, Moracas, Cristina, Cappa, Marco, Balsamo, Antonio, Maghnie, Mohamad, Wasniewska, Malgorzata Gabriela, Greggio, Nella Augusta, Baronio, Federico, Bizzarri, Carla, Ferro, Giusy, Di Lascio, Alessandra, Stancampiano, Marianna Rita, Azzolini, Sara, Patti, Giuseppa, Longhi, Silvia, Valenzise, Mariella, Radetti, Giorgio, Betterle, Corrado, Russo, Gianni, and Salerno, Mariacarolina
- Subjects
Male ,medicine.medical_specialty ,Pediatrics ,Delayed Diagnosis ,Adolescent ,adrenal crisis ,Addison’s disease ,Pediatric endocrinology ,Endocrinology, Diabetes and Metabolism ,Clinical Biochemistry ,Comorbidity ,Adrenocorticotropic hormone ,Biochemistry ,Primary Adrenal Insufficiency ,Cohort Studies ,Endocrinology ,Internal medicine ,Prevalence ,medicine ,Adrenal insufficiency ,Humans ,Congenital adrenal hyperplasia ,Addison’s disease, Primary adrenal insufficiency, adrenal crisis, adult height ,Age of Onset ,Child ,Preschool ,Retrospective Studies ,adult height ,Primary adrenal insufficiency ,business.industry ,Adrenal hypoplasia ,Biochemistry (medical) ,Infant ,Adrenal crisis ,medicine.disease ,Addison's disease ,Adrenal Insufficiency ,Child, Preschool ,Female ,Italy ,Mutation ,medicine.symptom ,business - Abstract
Context Primary adrenal insufficiency (PAI) is a rare and potentially life-threatening condition that is poorly characterized in children. Objective To describe causes, presentation, auxological outcome, frequency of adrenal crisis and mortality of a large cohort of children with PAI. Patients and Methods Data from 803 patients from 8 centers of Pediatric Endocrinology were retrospectively collected. Results The following etiologies were reported: 85% (n = 682) congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21-OHD); 3.1% (n = 25) X-linked adrenoleukodystrophy; 3.1% (n = 25) autoimmune polyglandular syndrome type 1; 2.5% (n = 20) autoimmune adrenal insufficiency; 2% (n = 16) adrenal hypoplasia congenital; 1.2% (n = 10) non-21-OHD CAH; 1% (n = 8) rare syndromes; 0.6% (n = 5) familial glucocorticoid deficiency; 0.4% (n = 3) acquired adrenal insufficiency; 9 patients (1%) did not receive diagnosis. Since 21-OHD CAH has been extensively characterized, it was not further reviewed. In 121 patients with a diagnosis other than 21-OHD CAH, the most frequent symptoms at diagnosis were fatigue (67%), hyperpigmentation (50.4%), dehydration (33%), and hypotension (31%). Elevated adrenocorticotropic hormone (96.4%) was the most common laboratory finding followed by hyponatremia (55%), hyperkalemia (32.7%), and hypoglycemia (33.7%). The median age at presentation was 6.5 ± 5.1 years (0.1-17.8 years) and the mean duration of symptoms before diagnosis was 5.6 ± 11.6 months (0-56 months) depending on etiology. Rate of adrenal crisis was 2.7 per 100 patient-years. Three patients died from the underlying disease. Adult height, evaluated in 70 patients, was −0.70 ± 1.20 standard deviation score. Conclusions We characterized one of the largest cohorts of children with PAI aiming to improve the knowledge on diagnosis of this rare condition.
- Published
- 2020
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