ReviewJournal of clinical research in pediatric endocrinology2017
Latest Insights on the Etiology and Management of Primary Adrenal Insufficiency in Children.
Review in Journal of clinical research in pediatric endocrinology, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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Who cites it
17 citing papers in PubMed, 31 citations in OpenAlex.
- A rare case report of familial glucocorticoid deficiency type 4 (GCCD4) with dilated cardiomyopathy: a 3-year follow-up study.Translational pediatrics · 2026Article
- Beyond the genome: clinical challenges in diagnosingFrontiers in cell and developmental biology · 2026Article
- Article
- Insights Into Pediatric Non-congenital Adrenal Hyperplasia: A Review Based on 5 Different Rare Cases with Primary Adrenal Insufficiency.Turkish archives of pediatrics · 2025Article
- Treatment and Follow-up of Congenital Adrenal Hyperplasia Due to 21-hydroxylase Deficiency in Childhood and AdolescenceJournal of clinical research in pediatric endocrinology · 2025Review
- Epidemiology and Causes of Primary Adrenal Insufficiency in Children: A Population-Based Study.The Journal of clinical endocrinology and metabolism · 2023Article
- Autoimmune adrenal insufficiency in children: a hint for polyglandular syndrome type 2?Italian journal of pediatrics · 2023Article
- Development and function of the fetal adrenal.Reviews in endocrine & metabolic disorders · 2023Review
- Autoimmune Primary Adrenal Insufficiency in ChildrenJournal of clinical research in pediatric endocrinology · 2022Article
- Article
- Article
- Genetic aetiology of primary adrenal insufficiency in Chinese children.BMC medical genomics · 2021Article
- Does fludrocortisone treatment cause hypomagnesemia in children with primary adrenal insufficiency?Turkish journal of medical sciences · 2021Article
- Pediatric Primary Adrenal Insufficiency: A 21-year Single Center ExperienceJournal of clinical research in pediatric endocrinology · 2021Article
- Changes of expression levels of serum cystatin C and soluble vascular endothelial growth factor receptor 1 in the treatment of patients with glomerulus nephritis.Experimental and therapeutic medicine · 2020Article
- A broad range of symptoms in allgrove syndrome: single center experience in Southeast Anatolia.Journal of endocrinological investigation · 2020Article
- Editorial: Neonatal Screening for Congenital Adrenal Hyperplasia in TurkeyJournal of clinical research in pediatric endocrinology · 2019Article
Corrections and comments
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Authors and funding
1 author at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Primary adrenal insufficiency (PAI) is a heterogeneous group of disorders characterized by an impaired production of cortisol and other steroid hormones by the adrenal cortex. Most of the causes of PAI in childhood are inherited and monogenic in origin and are associated with significant morbidity and mortality whenever the diagnosis and treatment is delayed. Therefore, early and accurate diagnosis would allow appropriate management for the patients and genetic counselling for the family. Congenital adrenal hyperplasia accounts for most cases of PAI in childhood, followed by abnormalities in the development of the adrenal gland, resistance to adrenocorticotropin hormone action and adrenal destruction. In recent years, the use of genome-wide, next-generation sequencing approaches opened new avenues for identifying novel genetic causes in the PAI spectrum. Understanding the genetic basis of adrenal disorders is key to develop innovative therapies for patients with PAI. The promising progress made in congenital adrenal hyperplasia treatment brings new perspectives for personalized treatment in children with PAI. The aim of this review is to characterize recent advances in the genetics and management of PAI in children.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.