An unusual case of an ACTH-secreting macroadenoma with a germline variant in the aryl hydrocarbon receptor-interacting protein (AIP) gene

2.50
Hdl Handle:
http://hdl.handle.net/11287/593923
Title:
An unusual case of an ACTH-secreting macroadenoma with a germline variant in the aryl hydrocarbon receptor-interacting protein (AIP) gene
Authors:
Dinesen, P. T.; Dal, J.; Gabrovska, P.; Gaustadnes, M.; Gravholt, C. H.; Stals, Karen; Denes, J.; Asa, S. L.; Korbonits, M.; Jorgensen, J. O.
Abstract:
A patient of Cushing's disease (CD) characterized by a large tumor and only subtle symptoms of hormonal hypersecretion was examined. The patient had a germline variant in the aryl hydrocarbon receptor-interacting protein (AIP) gene. A 50-year-old male presenting with headache was diagnosed with a large pituitary tumor by magnetic resonance imaging (MRI). His visual fields were intact and he exhibited no features of CD. Owing to an exuberant response to synacthen, an overnight dexamethasone suppression test was performed revealing inadequate suppression of plasma cortisol (419 nmol/l). Owing to tumor growth and visual field impairment, he underwent transsphenoidal surgery and developed hypocortisolemia. The pathology specimen revealed a sparsely granulated corticotrope adenoma. Postoperative MRI showed a large tumor remnant. The patient developed skin hyperpigmentation and a synacthen test demonstrated high basal and stimulated cortisol levels; an overnight dexamethasone suppression test showed no suppression (791 nmol/l) and elevated plasma ACTH levels (135 ng/l). A transcranial operation was performed followed by radiotherapy. Two months after radiotherapy, he developed secondary adrenocortical failure. Genetic testing revealed an AIP variant of unknown significance (p.R16H) without loss of the normal AIP allele in the tumor. A literature review showed ten CD patients with AIP gene variants, of whom five (including our case) were p.R16H. CD is occasionally dominated by pituitary tumor growth rather than symptoms of hypersecretion. The particular AIP gene variant identified in our patient is shared by four other reported cases of CD. Future studies are needed to assess whether the reported AIP gene variant is more than just coincidental. LEARNING POINTS: CD is occasionally dominated by pituitary tumor growth rather than symptoms of hypersecretion.Resolution of both tumor remnant and hormonal hypersecretion may occur within 2 months after postoperative radiotherapy.The particular AIP gene variant identified in our patient is shared by four other reported cases of CD.
Citation:
Endocrinol Diabetes Metab Case Rep. 2015;2015:140105.
Publisher:
Endocrinol Diabetes Metab Case Reports
Journal:
Endocrinology, diabetes & metabolism case reports
Issue Date:
1-Jan-2015
URI:
http://hdl.handle.net/11287/593923
DOI:
10.1530/EDM-14-0105
PubMed ID:
25614825
Additional Links:
http://www.ncbi.nlm.nih.gov/pmc/articles/pmid/25614825/
Note:
This article is available via Open Access. Please click on the 'Additional Link' above to access the full-text.
Type:
Case Report
Language:
eng
ISSN:
2052-0573
Appears in Collections:
2015 RD&E publications; Molecular Genetics

Full metadata record

DC FieldValue Language
dc.contributor.authorDinesen, P. T.en
dc.contributor.authorDal, J.en
dc.contributor.authorGabrovska, P.en
dc.contributor.authorGaustadnes, M.en
dc.contributor.authorGravholt, C. H.en
dc.contributor.authorStals, Karenen
dc.contributor.authorDenes, J.en
dc.contributor.authorAsa, S. L.en
dc.contributor.authorKorbonits, M.en
dc.contributor.authorJorgensen, J. O.en
dc.date.accessioned2016-01-19T12:37:24Zen
dc.date.available2016-01-19T12:37:24Zen
dc.date.issued2015-01-01en
dc.identifier.citationEndocrinol Diabetes Metab Case Rep. 2015;2015:140105.en
dc.identifier.issn2052-0573en
dc.identifier.pmid25614825en
dc.identifier.doi10.1530/EDM-14-0105en
dc.identifier.urihttp://hdl.handle.net/11287/593923en
dc.description.abstractA patient of Cushing's disease (CD) characterized by a large tumor and only subtle symptoms of hormonal hypersecretion was examined. The patient had a germline variant in the aryl hydrocarbon receptor-interacting protein (AIP) gene. A 50-year-old male presenting with headache was diagnosed with a large pituitary tumor by magnetic resonance imaging (MRI). His visual fields were intact and he exhibited no features of CD. Owing to an exuberant response to synacthen, an overnight dexamethasone suppression test was performed revealing inadequate suppression of plasma cortisol (419 nmol/l). Owing to tumor growth and visual field impairment, he underwent transsphenoidal surgery and developed hypocortisolemia. The pathology specimen revealed a sparsely granulated corticotrope adenoma. Postoperative MRI showed a large tumor remnant. The patient developed skin hyperpigmentation and a synacthen test demonstrated high basal and stimulated cortisol levels; an overnight dexamethasone suppression test showed no suppression (791 nmol/l) and elevated plasma ACTH levels (135 ng/l). A transcranial operation was performed followed by radiotherapy. Two months after radiotherapy, he developed secondary adrenocortical failure. Genetic testing revealed an AIP variant of unknown significance (p.R16H) without loss of the normal AIP allele in the tumor. A literature review showed ten CD patients with AIP gene variants, of whom five (including our case) were p.R16H. CD is occasionally dominated by pituitary tumor growth rather than symptoms of hypersecretion. The particular AIP gene variant identified in our patient is shared by four other reported cases of CD. Future studies are needed to assess whether the reported AIP gene variant is more than just coincidental. LEARNING POINTS: CD is occasionally dominated by pituitary tumor growth rather than symptoms of hypersecretion.Resolution of both tumor remnant and hormonal hypersecretion may occur within 2 months after postoperative radiotherapy.The particular AIP gene variant identified in our patient is shared by four other reported cases of CD.en
dc.language.isoengen
dc.publisherEndocrinol Diabetes Metab Case Reportsen
dc.relation.urlhttp://www.ncbi.nlm.nih.gov/pmc/articles/pmid/25614825/en
dc.titleAn unusual case of an ACTH-secreting macroadenoma with a germline variant in the aryl hydrocarbon receptor-interacting protein (AIP) geneen
dc.typeCase Reporten
dc.identifier.journalEndocrinology, diabetes & metabolism case reportsen
dc.description.noteThis article is available via Open Access. Please click on the 'Additional Link' above to access the full-text.en

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