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Primary adrenal insufficiency in children excluding congenital adrenal hyperplasia: insights from 33-year single-center experience in Tunisia.
Arch Pediatr
January 2025
Department of Pediatrics, Hedi Chaker Hospital, Sfax, Tunisia; Faculty of Medicine of Sfax, University of Sfax, Sfax, Tunisia.
Background: Primary adrenal insufficiency (PAI) is a rare but potentially life-threatening condition. Congenital adrenal hyperplasia (CAH) is the most common cause of PAI in children. To date, numerous non-CAH causes have been identified through genetic analysis but they remain poorly characterized.
View Article and Find Full Text PDFGenetics of Primary Adrenal Insufficiency Beyond CAH in Saudi Arabian Population.
Mol Genet Genomic Med
January 2025
College of Medicine, Alfaisal University, Riyadh, Saudi Arabia.
Background: The use of exome sequencing (ES) has helped in detecting many variants and genes that cause primary adrenal insufficiency (PAI). The diagnosis of PAI is difficult and can be life-threatening if not treated urgently. Consanguinity can impact the detection of recessively inherited genes.
View Article and Find Full Text PDFThe Causes and Diagnosis of Non-congenital Adrenal Hyperplasia Primary Adrenal Insufficiency in Children.
J Clin Res Pediatr Endocrinol
January 2025
Ondokuz Mayıs University Faculty of Medicine, Department of Pediatric Endocrinology, Samsun, Turkey
Primary adrenal insufficiency (PAI) is a critical condition that requires prompt diagnosis and initiation of treatment. Diagnosis can be challenging due to various underlying causes, including defects in adrenal gland development, resistance to adrenocorticotropic hormone, autoimmune causes, and metabolic problems. A specific diagnosis is essential for developing a treatment plan and identifying other possible accompanying pathologies.
View Article and Find Full Text PDFThe multiple faces of autoimmune Addison's disease in children.
Front Endocrinol (Lausanne)
October 2024
Pediatric Endocrinology Unit, Department of Translational Medical Sciences, University of Naples Federico II, Naples, Italy.
Article Synopsis
- Primary adrenal insufficiency (PAI) is a rare but serious condition caused by low adrenal hormones, often difficult to diagnose due to non-specific symptoms.
- In adults, autoimmunity is the leading cause of PAI, while in children, congenital issues like congenital adrenal hyperplasia (CAH) are more common, though autoimmune cases are also emerging.
- This review aims to consolidate current knowledge on the causes, symptoms, and treatment of autoimmune PAI in kids to help doctors recognize early warning signs.
Increased prevalence of negative pregnancy and fetal outcomes in women with primary adrenal insufficiency. A systematic review and meta-analysis.
Endocrine
December 2024
Unit of Endocrinology, Diabetes Mellitus and Metabolism, "Aretaieion" Hospital, Faculty of Medicine, National and Kapodistrian University of Athens, Athens, Greece.
Article Synopsis
- Maternal primary adrenal insufficiency (PAI) during pregnancy, caused by Addison disease or congenital adrenal hyperplasia, is rare, and there's limited research on its effects on fetal and neonatal outcomes.
- A systematic review and meta-analysis examined 31 studies, 11 of which were quantitatively analyzed, focusing on outcomes like spontaneous abortion, preterm birth, and small for gestational age (SGA) neonates.
- Results showed higher rates of spontaneous abortions (18%), preterm births (11% overall), and SGA neonates (8% overall) in women with PAI compared to controls, although fetal birth weights remained normal across all groups studied.
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