We found a match
Your institution may have rights to this item. Sign in to continue.
- Title
Lack of mutations in the gene coding for the hGR ( NR3C1) in a pediatric patient with ACTH-secreting pituitary adenoma, absence of stigmata of Cushing's syndrome and unusual histologic features.
- Authors
Briassoulis, George; Horvath, Anelia; Christoforou, Paola; Lodish, Maya; Xekouki, Paraskevi; Quezado, Martha; Patronas, Nicholas; Keil, Meg F.; Stratakis, Constantine A.
- Abstract
Background: Rare cases of human glucocorticoid receptor (hGRα) ( NR3C1) gene mutations have been described in the gemline or somatic state in Cushing's disease (CD). Aim: We describe a pediatric patient with CD with clinical evidence of partial glucocorticoid resistance (GR) due to the relative absence of stigmata of Cushing's syndrome (CS). Case description: A 14-year-old boy with slow growth and hypertension, but no other signs of CS was admitted for CD evaluation. Urinary free cortisol levels (UFC) were consistently 2-3-fold the upper normal range. Pituitary magnetic resonance imaging (MRI) revealed a 3×4 mm hypoenhancing lesion in the right side of the pituitary gland anteriorly (microadenoma). A graded dexamethasone suppression test indicated that the patient had partial GR. Histology confirmed an adrenocorticotrophin (ACTH)-producing pituitary adenoma. We hypothesized that a NR3C1 mutation was present. Sequencing of the entire coding region of the gene produced normal results in both peripheral and tumor DNA. Conclusion: We present the case of a pediatric patient with an ACTH-producing tumor but little evidence of CS. No mutations in the coding sequence of NR3C1 were detected. We conclude that low level somatic mosaicism for NR3C1 mutations or a mutation in another molecule participating in hGRα-signaling may account for this case.
- Publication
Journal of Pediatric Endocrinology & Metabolism, 2012, Vol 25, Issue 1/2, p213
- ISSN
0334-018X
- Publication type
Article
- DOI
10.1515/jpem.2011.371