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Glycogen storage disease presenting as Cushing syndrome.
JIMD Rep 2019; 47(1):17-22JR

Abstract

Impaired growth is common in patients with glycogen storage disease (GSD), who also may have "cherubic" facies similar to the "moon" facies of Cushing syndrome (CS). An infant presented with moon facies, growth failure, and obesity. Laboratory evaluation of the hypothalamic-pituitary-adrenal (HPA) axis was consistent with CS. He was subsequently found to have liver disease, hypoglycemia, and a pathogenic variant in PHKA2, leading to the diagnosis of GSD type IXa. The cushingoid appearance, poor linear growth and hypercortisolemia improved after treatment to prevent recurrent hypoglycemia. We suspect this child's HPA axis activation was "appropriate" and caused by chronic hypoglycemic stress, leading to increased glucocorticoid secretion that may have contributed to his poor growth and excessive weight gain. This is in contrast to typical CS, which is due to excessive adrenocorticotropic hormone (ACTH) or cortisol secretion from neoplastic pituitary or adrenal glands, ectopic secretion of ACTH or corticotropin-releasing hormone (CRH), or exogenous administration of corticosteroid or ACTH. Pseudo-CS is a third cause of excessive glucocorticoid secretion, has no HPA axis pathology, is most often associated with underlying psychiatric disorders or obesity in children and, by itself, is thought to be benign. We speculate that some diseases, including chronic hypoglycemic disorders such as the GSDs, may have biochemical features and pathologic consequences of CS. We propose that excessive glucocorticoid secretion due to chronic stress be termed "stress-induced Cushing (SIC) syndrome" to distinguish it from the other causes of CS and pseudo-CS, and that evaluation of children with chronic hypoglycemia and poor statural growth include evaluation for CS.

Authors+Show Affiliations

Division of Endocrinology, Department of Pediatrics Boston Children's Hospital, Harvard Medical School Boston Massachusetts.Division of Endocrinology, Department of Pediatrics Boston Children's Hospital, Harvard Medical School Boston Massachusetts.Division of Endocrinology, Department of Pediatrics Boston Children's Hospital, Harvard Medical School Boston Massachusetts.Division of Endocrinology, Department of Pediatrics Boston Children's Hospital, Harvard Medical School Boston Massachusetts.

Pub Type(s)

Case Reports

Language

eng

PubMed ID

31240162

Citation

Stefater, Margaret A., et al. "Glycogen Storage Disease Presenting as Cushing Syndrome." JIMD Reports, vol. 47, no. 1, 2019, pp. 17-22.
Stefater MA, Wolfsdorf JI, Ma NS, et al. Glycogen storage disease presenting as Cushing syndrome. JIMD Rep. 2019;47(1):17-22.
Stefater, M. A., Wolfsdorf, J. I., Ma, N. S., & Majzoub, J. A. (2019). Glycogen storage disease presenting as Cushing syndrome. JIMD Reports, 47(1), pp. 17-22. doi:10.1002/jmd2.12031.
Stefater MA, et al. Glycogen Storage Disease Presenting as Cushing Syndrome. JIMD Rep. 2019;47(1):17-22. PubMed PMID: 31240162.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Glycogen storage disease presenting as Cushing syndrome. AU - Stefater,Margaret A, AU - Wolfsdorf,Joseph I, AU - Ma,Nina S, AU - Majzoub,Joseph A, Y1 - 2019/04/03/ PY - 2018/12/20/received PY - 2019/03/11/accepted PY - 2019/6/27/entrez PY - 2019/6/27/pubmed PY - 2019/6/27/medline KW - cortisol KW - glycogen storage disease KW - growth KW - hypothalamic‐pituitary‐adrenal axis KW - pseudo‐Cushing syndrome KW - stress‐induced Cushing (SIC) syndrome SP - 17 EP - 22 JF - JIMD reports JO - JIMD Rep VL - 47 IS - 1 N2 - Impaired growth is common in patients with glycogen storage disease (GSD), who also may have "cherubic" facies similar to the "moon" facies of Cushing syndrome (CS). An infant presented with moon facies, growth failure, and obesity. Laboratory evaluation of the hypothalamic-pituitary-adrenal (HPA) axis was consistent with CS. He was subsequently found to have liver disease, hypoglycemia, and a pathogenic variant in PHKA2, leading to the diagnosis of GSD type IXa. The cushingoid appearance, poor linear growth and hypercortisolemia improved after treatment to prevent recurrent hypoglycemia. We suspect this child's HPA axis activation was "appropriate" and caused by chronic hypoglycemic stress, leading to increased glucocorticoid secretion that may have contributed to his poor growth and excessive weight gain. This is in contrast to typical CS, which is due to excessive adrenocorticotropic hormone (ACTH) or cortisol secretion from neoplastic pituitary or adrenal glands, ectopic secretion of ACTH or corticotropin-releasing hormone (CRH), or exogenous administration of corticosteroid or ACTH. Pseudo-CS is a third cause of excessive glucocorticoid secretion, has no HPA axis pathology, is most often associated with underlying psychiatric disorders or obesity in children and, by itself, is thought to be benign. We speculate that some diseases, including chronic hypoglycemic disorders such as the GSDs, may have biochemical features and pathologic consequences of CS. We propose that excessive glucocorticoid secretion due to chronic stress be termed "stress-induced Cushing (SIC) syndrome" to distinguish it from the other causes of CS and pseudo-CS, and that evaluation of children with chronic hypoglycemia and poor statural growth include evaluation for CS. SN - 2192-8304 UR - https://www.unboundmedicine.com/medline/citation/31240162/Glycogen_storage_disease_presenting_as_Cushing_syndrome L2 - https://dx.doi.org/10.1002/jmd2.12031 DB - PRIME DP - Unbound Medicine ER -