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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.
Afiliación
  • Capalbo D; Pediatric Endocrinology Unit, Department of Mother and Child, University Hospital Federico II, Endo-ERN Center for Rare Endocrine Conditions, Naples, Italy.
  • Moracas C; Pediatric Endocrinology Unit, Department of Translational Medical Sciences, University of Naples Federico II, Endo-ERN Center for Rare Endocrine Conditions, Naples, Italy.
  • Cappa M; Unit of Endocrinology, Bambino Gesù Children's Hospital (IRCCS), Rome, Italy.
  • Balsamo A; Pediatric Unit, Department of Medical and Surgical Sciences, S.Orsola-Malpighi University Hospital, Endo-ERN Center for Rare Endocrine Conditions, Bologna, Italy.
  • Maghnie M; Department of Pediatrics, IRCCS Istituto Giannina Gaslini, University of Genova, 16147 Genova, Italy.
  • Wasniewska MG; Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genova, Genova, Italy.
  • Greggio NA; Unit of Pediatrics, Department of Human Pathology of Adulthood and Childhood, University of Messina, Messina, Italy.
  • Baronio F; Department of Women's and Children's Health of Padua, Pediatric Endocrinology and Adolescence Unit, Endo-ERN Center for Rare Endocrine Conditions, Padua, Italy.
  • Bizzarri C; Pediatric Unit, Department of Medical and Surgical Sciences, S.Orsola-Malpighi University Hospital, Endo-ERN Center for Rare Endocrine Conditions, Bologna, Italy.
  • Ferro G; Unit of Endocrinology, Bambino Gesù Children's Hospital (IRCCS), Rome, Italy.
  • Di Lascio A; Unit of Endocrinology, Bambino Gesù Children's Hospital (IRCCS), Rome, Italy.
  • Stancampiano MR; Department of Pediatrics, Endocrine Unit, IRCCS San Raffaele Scientific Institute, Endo-ERN Center for Rare Endocrine Conditions, Milan, Italy.
  • Azzolini S; Department of Pediatrics, Endocrine Unit, IRCCS San Raffaele Scientific Institute, Endo-ERN Center for Rare Endocrine Conditions, Milan, Italy.
  • Patti G; Department of Women's and Children's Health of Padua, Pediatric Endocrinology and Adolescence Unit, Endo-ERN Center for Rare Endocrine Conditions, Padua, Italy.
  • Longhi S; Department of Pediatrics, IRCCS Istituto Giannina Gaslini, University of Genova, 16147 Genova, Italy.
  • Valenzise M; Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genova, Genova, Italy.
  • Radetti G; Department of Pediatrics, Regional Hospital, Bolzano, Italy.
  • Betterle C; Unit of Pediatrics, Department of Human Pathology of Adulthood and Childhood, University of Messina, Messina, Italy.
  • Russo G; Department of Pediatrics, Regional Hospital, Bolzano, Italy.
  • Salerno M; Unit of Endocrinology, Department of Medicine (DIMED) University of Padua, Padua, Italy.
J Clin Endocrinol Metab ; 106(3): 762-773, 2021 03 08.
Article en En | MEDLINE | ID: mdl-33247909
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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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Insuficiencia Suprarrenal Tipo de estudio: Diagnostic_studies / Etiology_studies / Incidence_studies / Observational_studies / Prevalence_studies / Risk_factors_studies Límite: Adolescent / Child / Child, preschool / Female / Humans / Infant / Male País/Región como asunto: Europa Idioma: En Revista: J Clin Endocrinol Metab Año: 2021 Tipo del documento: Article País de afiliación: Italia

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Insuficiencia Suprarrenal Tipo de estudio: Diagnostic_studies / Etiology_studies / Incidence_studies / Observational_studies / Prevalence_studies / Risk_factors_studies Límite: Adolescent / Child / Child, preschool / Female / Humans / Infant / Male País/Región como asunto: Europa Idioma: En Revista: J Clin Endocrinol Metab Año: 2021 Tipo del documento: Article País de afiliación: Italia