Document Detail

Severe cortisol deficiency associated with reversible growth hormone deficiency in two infants: what is the link?
MedLine Citation:
PMID:  21752888     Owner:  NLM     Status:  MEDLINE    
CONTEXT: Hypoglycemia is potentially life-threatening, especially in infants, and can be due to congenital cortisol and/or GH deficiency (GHD).
CASE ILLUSTRATION: Two full-term infants had undetectable cortisol levels, but also low GH levels, at the time of severe hypoglycemia. GHD persisted for several months, even after cortisol replacement.
METHODS: Targeted molecular investigations were performed and revealed homozygous inactivating mutations in MRAP (MIM ID 609196) in patient 1 and in TPIT (MIM ID 604614) in patient 2. Because GHD is not part of the MRAP or TPIT phenotypes, we performed GH stimulation tests. These revealed that GHD had resolved by 8 months (patient 1) and 3 yr (patient 2) of glucocorticoid replacement. GH replacement was therefore stopped, hypoglycemia did not recur, and over the subsequent 10 yr, growth and puberty have proceeded normally.
CONCLUSIONS: 1) Physiological glucocorticoid levels appear to be required for the development and function of the somatotrophs during infancy. 2) Eucortisolism, like euthyroidism, is required for the proper evaluation of GH secretory capacity. 3) The metabolic effect of GH replacement is essential for the maintenance of normoglycemia, especially in infants. And 4) targeted molecular investigations are a powerful tool to clarify the diagnosis in severely ill infants and to reevaluate the specific treatment they need.
Rebecca McEachern; Jacques Drouin; Louise Metherell; Céline Huot; Guy Van Vliet; Cheri Deal
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Publication Detail:
Type:  Case Reports; Journal Article     Date:  2011-07-13
Journal Detail:
Title:  The Journal of clinical endocrinology and metabolism     Volume:  96     ISSN:  1945-7197     ISO Abbreviation:  J. Clin. Endocrinol. Metab.     Publication Date:  2011 Sep 
Date Detail:
Created Date:  2011-09-07     Completed Date:  2011-11-23     Revised Date:  2012-09-10    
Medline Journal Info:
Nlm Unique ID:  0375362     Medline TA:  J Clin Endocrinol Metab     Country:  United States    
Other Details:
Languages:  eng     Pagination:  2670-4     Citation Subset:  AIM; IM    
Endocrinology Service and Research Center, Department of Pediatrics, Centre Hospitalier Universitaire Sainte-Justine and University of Montréal, Montréal, Québec, Canada.
Data Bank Information
Bank Name/Acc. No.:
OMIM/604614;  609196
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MeSH Terms
Homeodomain Proteins / genetics
Human Growth Hormone / deficiency*
Hydrocortisone / deficiency*
Infant, Newborn
Membrane Proteins / genetics
T-Box Domain Proteins / genetics
Reg. No./Substance:
0/Homeodomain Proteins; 0/MRAP protein, human; 0/Membrane Proteins; 0/T-Box Domain Proteins; 0/TBX19 protein, human; 12629-01-5/Human Growth Hormone; 50-23-7/Hydrocortisone

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