Clinical profile, etiology, and diagnostic challenges of primary adrenal insufficiency in Sudanese children: 14-years’ experience from a resource limited setting
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Salwa A. Musa
,
Samar S. Hassan
,
Amna I. Ahmed
Abstract
Objectives
Primary adrenal insufficiency (PAI) in children is an uncommon condition. Congenital adrenal hyperplasia (CAH) is the commonest cause followed by autoimmune disorders. Diagnosis and management are challenging especially in resource-limited settings. Studies from Africa are scanty and here we describe for the first time the clinical presentation, possible etiologies, and challenges in diagnosis and management of PAI in a large cohort of Sudanese children.
Methods
This was a descriptive hospital-based study where all patients diagnosed with PAI between 2006 and 2020 were reviewed. The diagnosis was based on clinical presentation, low morning cortisol ± high adrenocorticotropic hormone (ACTH), or inadequate response of cortisol to synacthen stimulation. Challenges faced in diagnosis and management were identified.
Results
From 422 PAI suspected patients, 309 (73.2%) had CAH, and 33 (7.8%) had PAI-like symptoms and were not furtherly discussed. Eighty patients (19%) had fulfilled the study criteria: 29 had Allgrove syndrome, nine auto-immune polyendocrinopathy syndrome, seven adrenoleukodystrophy, and one had an adrenal hemorrhage. Hyperpigmentation was the cardinal feature in 75 (93.8%) while the adrenal crisis was not uncommon. Lack of diagnostic facilities has obscured the etiology in 34 (42.5%) patients.
Conclusions
PAI is not uncommon in Sudanese children where genetic causes outweigh the autoimmune ones. Many cases were missed due to nonspecific presentation, lack of awareness, and difficult access to tertiary health care facilities. In addition to the clinical findings, early morning cortisol ± ACTH levels can be used in diagnosis where facilities are limited particularly synacthen stimulation test.
Funding source: European Society for Pediatric Endocrinology
Acknowledgments
The authors would like to thank the medical records team at GIA hospital for their great help in data collection.
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Research funding: This study was sponsored by the European Society for Pediatric Endocrinology (ESPE).
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Author contribution: All authors have accepted responsibility for the entire content of this manuscript and approved its submission.
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Competing interests: Authors state no conflict of interest.
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Informed consent: Informed consent was obtained from all individuals included in this study.
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Ethical approval: The study was approved by the ethical committee of the hospital.
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© 2021 Walter de Gruyter GmbH, Berlin/Boston
Artikel in diesem Heft
- Frontmatter
- Editorial
- Obesity after the Covid-19 pandemic and beyond
- Review Article
- Clinical profile and management challenges of disorders of sex development in Africa: a systematic review
- Original Articles
- Development and validation of a mobile application for point of care evaluation of growth failure
- Children-Dietary Inflammatory Index (C-DII), cardiometabolic risk, and inflammation in adolescents: a cross-sectional study
- Accelerated pubertal onset in short children with delayed bone age
- Screening for hypophosphatasia: does biochemistry lead the way?
- Subcutaneous regular insulin use for the management of diabetic ketoacidosis in resource limited setting
- NPR2 gene variants in familial short stature: a single-center study
- The effect of the COVID-19 pandemic on metabolic control in children with type 1 diabetes: a single-center experience
- Evaluating a standardized protocol for the management of diabetes insipidus in pediatric neurosurgical patients
- Development and assessment of a low-health-literacy, pictographic adrenal insufficiency action plan
- Effect of insulin resistance on lung function in asthmatic children
- A major health problem facing immigrant children: nutritional rickets
- Clinical profile, etiology, and diagnostic challenges of primary adrenal insufficiency in Sudanese children: 14-years’ experience from a resource limited setting
- Non-inferiority of liquid thyroxine in comparison to tablets formulation in the treatment of children with congenital hypothyroidism
- Short Communication
- Increased frequency of idiopathic central precocious puberty in girls during the COVID-19 pandemic: preliminary results of a tertiary center study
- Case Reports
- Gordon syndrome caused by a CUL3 mutation in a patient with short stature in Korea: a case report
- Nitisinone treatment during two pregnancies and breastfeeding in a woman with tyrosinemia type 1 – a case report
- Myxedema crisis and ovarian hyperstimulation in a child with Down syndrome
- First successful concomitant therapy of immune tolerance induction therapy and desensitization in a CRIM-negative infantile Pompe patient
Artikel in diesem Heft
- Frontmatter
- Editorial
- Obesity after the Covid-19 pandemic and beyond
- Review Article
- Clinical profile and management challenges of disorders of sex development in Africa: a systematic review
- Original Articles
- Development and validation of a mobile application for point of care evaluation of growth failure
- Children-Dietary Inflammatory Index (C-DII), cardiometabolic risk, and inflammation in adolescents: a cross-sectional study
- Accelerated pubertal onset in short children with delayed bone age
- Screening for hypophosphatasia: does biochemistry lead the way?
- Subcutaneous regular insulin use for the management of diabetic ketoacidosis in resource limited setting
- NPR2 gene variants in familial short stature: a single-center study
- The effect of the COVID-19 pandemic on metabolic control in children with type 1 diabetes: a single-center experience
- Evaluating a standardized protocol for the management of diabetes insipidus in pediatric neurosurgical patients
- Development and assessment of a low-health-literacy, pictographic adrenal insufficiency action plan
- Effect of insulin resistance on lung function in asthmatic children
- A major health problem facing immigrant children: nutritional rickets
- Clinical profile, etiology, and diagnostic challenges of primary adrenal insufficiency in Sudanese children: 14-years’ experience from a resource limited setting
- Non-inferiority of liquid thyroxine in comparison to tablets formulation in the treatment of children with congenital hypothyroidism
- Short Communication
- Increased frequency of idiopathic central precocious puberty in girls during the COVID-19 pandemic: preliminary results of a tertiary center study
- Case Reports
- Gordon syndrome caused by a CUL3 mutation in a patient with short stature in Korea: a case report
- Nitisinone treatment during two pregnancies and breastfeeding in a woman with tyrosinemia type 1 – a case report
- Myxedema crisis and ovarian hyperstimulation in a child with Down syndrome
- First successful concomitant therapy of immune tolerance induction therapy and desensitization in a CRIM-negative infantile Pompe patient
