A variable course of Cushing’s disease in a 7 year old: diagnostic dilemma
-
Inderpal Singh Kochar
and
Aashish Sethi
Abstract
Background
Cushing’s syndrome (CS) or hypercortisolism results from disruption of the hypothalamus-pituitary-adrenal (HPA) axis with the resultant increase in the circulating serum and urinary cortisol levels and lack of cortisol circadian rhythm. The resultant effects cause the physical manifestation of hypercortisolism. The appearance of Cushing’s disease in children is insidious, the most common features being growth failure, obesity, early puberty and facial appearance.
Case presentation
We report a case of a 7-year-old male with a very unusual course of the disease, which could have led to diagnostic delays.
Author contributions: All the authors have accepted responsibility for the entire content of this submitted manuscript and approved submission.
Research funding: None declared.
Employment or leadership: None declared.
Honorarium: None declared.
Competing interests: The funding organization(s) played no role in the study design; in the collection, analysis, and interpretation of data; in the writing of the report; or in the decision to submit the report for publication.
References
1. Cushing H. The basophil adenomas of the pituitary body and their clinical manifestations (pituitary basophilism). Bull Johns Hopkins Hosp 1932;50:137−95.Search in Google Scholar
2. Pivonello R, De Leo M, Cozzolino A, Colao A. The treatment of Cushing’s disease. Endocr Rev 2015;36:385–486.10.1210/er.2013-1048Search in Google Scholar PubMed PubMed Central
3. Henry R, Keil M, Stratakis C, Fechner PY. Cushing’s syndrome secondary to isolated micronodular adrenocotrical disease (iMAD) associated with rapid onset weight gain and negative abdominal MRI findings in a 3 year old male. J Pediatr Endocrinol Metab 2010;23:613–20.10.1515/jpem.2010.101Search in Google Scholar PubMed PubMed Central
4. Rydzewska M, Krawczuk-Rybak M, Zajkowska A, Jurczuk N, Polnik D, et al. Cushing’s syndrome in infancy due to ectopic ACTH secretion by a sacro-coccygeal teratoma. J Pediatr Endocrinol Metab 2017;30:475–8.10.1515/jpem-2016-0339Search in Google Scholar PubMed
5. Steffensen C, Bak AM, Rubeck KZ, Jorgensen JO. Epidemiology of Cushing’s syndrome. Neuroendocrinology 2010;92(Suppl 1):1–5.10.1159/000314297Search in Google Scholar PubMed
6. Storr HL, Savage MO. Paediatric Cushing’s disease. Eur J Endocrinol 2015;173:R35–4.10.1530/EJE-15-0013Search in Google Scholar PubMed
7. Vierimaa O, Georgitsi M, Lehtonen R, Vahteristo P, Kokko A, et al. Pituitary adenoma predisposition caused by germline mutations in the AIP gene. Science 2006;312:1228–30.10.1126/science.1126100Search in Google Scholar PubMed
8. Nunes ML, Vattaut S, Corcuff JB, Rault A, Loiseau H, et al. Late-night salivary cortisol for diagnosis of overt and subclinical Cushing’s syndrome in hospitalized and ambulatory patients. J Clin Endocrinol Metab 2009;94:456–62.10.1210/jc.2008-1542Search in Google Scholar PubMed
9. Yaneva M, Mosnier-Pudar H, Dugue MA, Grabar S, Fulla Y, et al. Midnight salivary cortisol for the initial diagnosis of Cushing’s syndrome of various causes. J Clin Endocrinol Metab 2004;89:3345–51.10.1210/jc.2003-031790Search in Google Scholar PubMed
10. Batista DL, Oldfield EH, Keil MF, Stratakis CA. Postoperative testing to predict recurrent Cushing disease in children. J Clin Endocrinol Metab 2009;94:2757–65.10.1210/jc.2009-0302Search in Google Scholar PubMed PubMed Central
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Articles in the same Issue
- Frontmatter
- Original Articles
- Carotid intima media thickness and associations with serum osteoprotegerin and s-RANKL in children and adolescents with type 1 diabetes mellitus with increased risk for endothelial dysfunction
- Cardiometabolic risk factors in preschool children with abdominal obesity from Medellín, Colombia
- Long-term follow-up of gonadal dysfunction in morbidly obese adolescent boys after bariatric surgery
- Prevalence of overweight and obesity and anthropometric reference centiles for Albanian children and adolescents living in four Balkan nation-states
- High urate concentration is associated with elevated blood pressure in schoolchildren
- The association of hs-CRP and fibrinogen with anthropometric and lipid parameters in non-obese adolescent girls with polycystic ovary syndrome
- Leptin and adiposity as mediators on the association between early puberty and several biomarkers in European adolescents: the HELENA Study
- Adolescents with premenstrual syndrome: not only what you eat but also how you eat matters!
- Thyroid dysfunction in children with leukemia over the first year after hematopoietic stem cell transplantation
- Morning vs. bedtime levothyroxine administration: what is the ideal choice for children?
- Basal characteristics and first year responses to human growth hormone (GH) vary according to diagnostic criteria in children with non-acquired GH deficiency (naGHD): observations from a single center over a period of five decades
- The prevalence and volumetry of pituitary cysts in children with growth hormone deficiency and idiopathic short stature
- SHOX gene deletion screening by FISH in children with short stature and Madelung deformity and their characteristics
- FGFR3-related hypochondroplasia: longitudinal growth in 57 children with the p.Asn540Lys mutation
- Case Reports
- A variable course of Cushing’s disease in a 7 year old: diagnostic dilemma
- Severe hyperchylomicronemia in two infants with novel APOC2 gene mutation
