Primary adrenal insufficiency in childhood: data from a large nationwide cohort

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; Salerno, Mariacarolina

doi:10.1210/clinem/dgaa881

Cited by 47Adrenal Hormones and DisordersSexual Differentiation and DisordersImmunodeficiency and Autoimmune Disorders

Primary adrenal insufficiency in childhood: data from a large nationwide cohort

Capalbo, Donatella, Moracas, Cristina, Cappa, Marco, Balsamo, Antonio, Maghnie, Mohamad, Wasniewska, Malgorzata Gabriela, Greggio, Nella Augusta, Baronio, Federico +12 more·2021·The Journal of Clinical Endocrinology & Metabolism

DOI 10.1210/clinem/dgaa881

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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.

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Capalbo et al. reported that 32.1% of patients were diagnosed with PAI by stimulation testing.
“Notably, Capalbo et al. reported that 32.1% of the patients were diagnosed with PAI by stimulation testing (8).”
From X-linked adrenoleukodystrophy and primary adrenal insufficiency (2023) · cites this paper as [8]

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Authors: Capalbo, D., Moracas, C., Cappa, M., Balsamo, A., Maghnie, M., Wasniewska, M. G., Greggio, N. A., Baronio, F., Bizzarri, C., Ferro, G., Di Lascio, A., Stancampiano, M. R., Azzolini, S., Patti, G., Longhi, S., Valenzise, M., Radetti, G., Betterle, C., Russo, G., & Salerno, M.
Affiliations: Federico II University Hospital (IT)
Bambino Gesù Children's Hospital (IT)
IRCCS Azienda Ospedliero-Universitaria di Bologna Policlinico di Sant'Orsola (IT)
Istituto Giannina Gaslini (IT)
University of Messina (IT)
University of Padua (IT)
Department of Pediatrics, Endocrine Unit, IRCCS San Raffaele Scientific Institute, Endo-ERN Center for Rare Endocrine Conditions, Milan, Italy
IRCCS Ospedale San Raffaele (IT)
Ospedale di Bolzano (IT)
Corresponding author: Salerno, Mariacarolina
ORCID: Capalbo, Donatella
Moracas, Cristina
Cappa, Marco
Balsamo, Antonio
Maghnie, Mohamad
Wasniewska, Malgorzata Gabriela
Baronio, Federico
Bizzarri, Carla
Stancampiano, Marianna Rita
Patti, Giuseppa
Longhi, Silvia
Valenzise, Mariella
Radetti, Giorgio
Betterle, Corrado
Salerno, Mariacarolina
Venue: The Journal of Clinical Endocrinology & Metabolism
Publisher: The Endocrine Society
Published: 2020-11-28
Volume: 106
Issue: 3
Pages: 762-773
ISSN: 0021-972X (ISSN-L)
1945-7197
DOI: 10.1210/clinem/dgaa881
OpenAlex: W3110524250
Cited by: 47
References: 58
Citations by year: 2026: 5 · 2025: 9 · 2024: 6 · 2023: 13 · 2022: 10 · 2021: 4
FWCI: 5.09
Type: journal article
Language: en
Open access: closed
Licence: academic.oup.com/journals/pages/open_access/funder_policies/chorus/standard_publication_model (vor)
Locations: The Journal of Clinical Endocrinology & Metabolism (publishedVersion)
PubMed (publishedVersion)
CINECA IRIS Institutial Research Information System (University of Genoa) (submittedVersion)
Topics: Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › Adrenal Hormones and Disorders
Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Sexual Differentiation and Disorders
Life Sciences › Immunology and Microbiology › Immunology › Immunodeficiency and Autoimmune Disorders
Keywords: Addison's disease, childhood, congenital adrenal hyperplasia, 21-hydroxylase deficiency, adrenal crisis, mortality, growth outcomes, adult height, ACTH, autoimmune adrenal insufficiency, adrenoleukodystrophy, autoimmune polyglandular syndrome type 1, congenital adrenal hypoplasia, familial glucocorticoid deficiency
MeSH terms: Adolescent, Adrenal Insufficiency, Child, Child, Preschool, Female, Humans, Infant, Italy, Male, Mutation, Retrospective Studies, Cohort Studies, Comorbidity, Prevalence, Age of Onset, Delayed Diagnosis

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Primary adrenal insufficiency in childhood: data from a large nationwide cohort

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