Acquired idiopathic isolated ACTH deficiency with associated autoimmune thyroiditis in pediatrics: case report and review of the literature
-
Aristeidis Giannakopoulos
,
Alexandra Efthymiadou
Abstract
Objectives
Isolated ACTH deficiency (IAD) is defined as an impaired secretion of ACTH from the pituitary gland without any other anterior pituitary hormonal deficits. The idiopathic form of IAD has been described mainly in adults and is thought to be caused by an autoimmune mechanism.
Case presentation
Herein, we present an 11-year-old _prepubertal previously healthy boy, who suffered a severe hypoglycemic episode short after the initiation of thyroxine for autoimmune thyroiditis and was finally diagnosed with secondary adrenal failure due to idiopathic IAD, after all other etiologies were excluded, thought an extensive diagnostic work-up.
Conclusions
Idiopathic IAD is a rare entity of adrenal insufficiency in pediatrics that should be considered as an etiology of secondary adrenal failure in children, when clinical signs of glucocorticoid deficiency are present and other causes are excluded.
Acknowledgments
The authors would like to express their gratitude to the patient and family for the good patient-physician relationship and permission to present their case to a professional audience.
-
Research funding: None declared.
-
Author contributions: All authors have accepted responsibility for the entire content of this manuscript and approved its submission. AG wrote the manuscript. AE reviewed the manuscript. DC supervised and reviewed the manuscript.
-
Competing interests: Authors state no conflict of interest.
-
Informed consent: Written informed permission of the patient and both his legal guardians was obtained for the presentation of their case to a professional audience.
-
Ethical approval: The local Institutional Review Board (University Hospital of Patras) deemed the study exempt from review.
References
1. Hannon, AM, Hunter, S, Smith, D, Sherlock, M, O’Halloran, D, Thompson, CJ. Clinical features and autoimmune associations in patients presenting with idiopathic isolated ACTH deficiency. Clin Endocrinol 2018;88:491–7. https://doi.org/10.1111/cen.13536.Search in Google Scholar PubMed
2. Couture, C, Saveanu, A, Barlier, A, Carel, JC, Fassnacht, M, Flück, CE, et al.. Phenotypic homogeneity and genotypic variability in a large series of congenital isolated ACTH-deficiency patients with TPIT gene mutations. J Clin Endocrinol Metabolism 2012;97:E486–95. https://doi.org/10.1210/jc.2011-1659.Search in Google Scholar PubMed
3. Farooqi, IS, Jones, MK, Evans, M, O’Rahilly, S, Hodges, JR. Triple H syndrome: a novel autoimmune endocrinopathy characterized by dysfunction of the hippocampus, hair follicle, and hypothalamic-pituitary-adrenal Axis. J Clin Endocrinol Metabolism 2000;85:2644–8. https://doi.org/10.1210/jcem.85.8.6753.Search in Google Scholar PubMed
4. Byun, DJ, Wolchok, JD, Rosenberg, LM, Girotra, M. Cancer immunotherapy – immune checkpoint blockade and associated endocrinopathies. Nat Rev Endocrinol 2017;13:195–207. https://doi.org/10.1038/nrendo.2016.205.Search in Google Scholar PubMed PubMed Central
5. Barroso-Sousa, R, Barry, WT, Garrido-Castro, AC, Hodi, FS, Min, L, Krop, IE, et al.. Incidence of endocrine dysfunction following the use of different immune checkpoint inhibitor regimens: a systematic review and meta-analysis. JAMA Oncol 2017;4:173. https://doi.org/10.1001/jamaoncol.2017.3064.Search in Google Scholar PubMed PubMed Central
6. Hannon, MJ, O’Halloran, DJ. Isolated acquired ACTH deficiency and primary hypothyroidism: a short series and review. Pituitary 2011;14:358–61. https://doi.org/10.1007/s11102-008-0164-9.Search in Google Scholar PubMed
7. Fujita, Y, Bando, H, Iguchi, G, Iida, K, Nishizawa, H, Kanie, K, et al.. Clinical heterogeneity of acquired idiopathic isolated adrenocorticotropic hormone deficiency. Front Endocrinol 2021;12:578802. https://doi.org/10.3389/fendo.2021.578802.Search in Google Scholar PubMed PubMed Central
8. Seo, GH, Kim, T, Choi, IH, Park, J, Lee, J, Kim, S, et al.. Diagnostic yield and clinical utility of whole exome sequencing using an automated variant prioritization system, EVIDENCE. Clin Genet 2020;98:562–70. https://doi.org/10.1111/cge.13848.Search in Google Scholar PubMed PubMed Central
9. Sauter, NP, Toni, R, McLaughlin, CD, Dyess, EM, Lechan, RM. Isolated adrenocorticotropin deficiency associated with an autoantibody to a corticotroph antigen that is not adrenocorticotropin or other proopiomelanocortin-derived peptides*. J Clin Endocrinol Metabolism 1990;70:1391–7. https://doi.org/10.1210/jcem-70-5-1391.Search in Google Scholar PubMed
10. Iranmanesh, A, Lizarralde, G, Johnson, ML, Veldhuis, JD. Dynamics of 24-hour endogenous cortisol secretion and clearance in primary hypothyroidism assessed before and after partial thyroid hormone replacement*. J Clin Endocrinol Metabolism 1990;70:155–61. https://doi.org/10.1210/jcem-70-1-155.Search in Google Scholar PubMed
© 2023 Walter de Gruyter GmbH, Berlin/Boston
Articles in the same Issue
- Frontmatter
- Review Article
- Molecular mechanisms involved in fetal programming and disease origin in adulthood
- Original Articles
- Neuropathy in paediatric type 1 diabetes mellitus – clinical characterization and analysis of risk factors in the diabetes prospective follow-up registry DPV (Diabetes-Patienten-Verlaufsdokumentation)-registry
- Effect of metabolic control on cognitive functions in children and adolescents with type 1 diabetes mellitus
- Uric acid and sCD163 as biomarkers for metabolic dysfunction and MAFLD in children and adolescents with overweight and obesity
- Endocrinological, immunological and metabolic features of patients with Fabry disease under therapy
- Evaluation and management of pediatric thyroid nodules and thyroid cancer at a single institution after adoption of the American Thyroid Association 2015 guidelines
- Fasting ketone levels vary by age: implications for differentiating physiologic from pathologic ketotic hypoglycemia
- Association of adipocytokines and adipocytokine ratios with cardiovascular risk factors in Japanese preadolescents
- Daily vs. monthly oral vitamin D3 for treatment of symptomatic vitamin D deficiency in infants: a randomized controlled trial
- Short Communication
- Management and outcomes in secondary diabetes among pediatric patients hospitalized with hemophagocytic lymphohistiocytosis
- Letter to the Editor
- Potential usefulness of assessing serum betamethasone levels during betamethasone therapy
- Case Reports
- Acquired idiopathic isolated ACTH deficiency with associated autoimmune thyroiditis in pediatrics: case report and review of the literature
- A very rare cause of hypertrygliseridemia in infancy: a novel mutation in glycerol-3-phosphate dehydrogenase 1 (GPD1) gene
- Difficult to think about but easy to treat: scurvy
- Severe hypophosphataemia can be an early sign of osteopetrorickets: a case report
- Corrigendum
- Diagnosis of adrenal insufficiency in children: a survey among pediatric endocrinologists in North America
Articles in the same Issue
- Frontmatter
- Review Article
- Molecular mechanisms involved in fetal programming and disease origin in adulthood
- Original Articles
- Neuropathy in paediatric type 1 diabetes mellitus – clinical characterization and analysis of risk factors in the diabetes prospective follow-up registry DPV (Diabetes-Patienten-Verlaufsdokumentation)-registry
- Effect of metabolic control on cognitive functions in children and adolescents with type 1 diabetes mellitus
- Uric acid and sCD163 as biomarkers for metabolic dysfunction and MAFLD in children and adolescents with overweight and obesity
- Endocrinological, immunological and metabolic features of patients with Fabry disease under therapy
- Evaluation and management of pediatric thyroid nodules and thyroid cancer at a single institution after adoption of the American Thyroid Association 2015 guidelines
- Fasting ketone levels vary by age: implications for differentiating physiologic from pathologic ketotic hypoglycemia
- Association of adipocytokines and adipocytokine ratios with cardiovascular risk factors in Japanese preadolescents
- Daily vs. monthly oral vitamin D3 for treatment of symptomatic vitamin D deficiency in infants: a randomized controlled trial
- Short Communication
- Management and outcomes in secondary diabetes among pediatric patients hospitalized with hemophagocytic lymphohistiocytosis
- Letter to the Editor
- Potential usefulness of assessing serum betamethasone levels during betamethasone therapy
- Case Reports
- Acquired idiopathic isolated ACTH deficiency with associated autoimmune thyroiditis in pediatrics: case report and review of the literature
- A very rare cause of hypertrygliseridemia in infancy: a novel mutation in glycerol-3-phosphate dehydrogenase 1 (GPD1) gene
- Difficult to think about but easy to treat: scurvy
- Severe hypophosphataemia can be an early sign of osteopetrorickets: a case report
- Corrigendum
- Diagnosis of adrenal insufficiency in children: a survey among pediatric endocrinologists in North America
