| Case report: Adrenal LH/hCG receptor overexpression and gene amplification causing pregnancy-induced Cushing's syndrome. | |
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MedLine Citation:
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PMID: 19705299 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Transient pregnancy-induced Cushing's syndrome (CS) is extremely rare, with only several cases reported in the literature. Ectopic LH/hCG-receptors (LHCGR) in the adrenal gland have been suggested to be involved in the pathogenesis of this condition. We report the clinical, molecular, and genetic features of a patient with pregnancy-induced CS. A 29-year-old female patient developed CS during multiple pregnancies, leading to repeated miscarriage. Signs and symptoms of hypercortisolism resolved soon after delivery or abortion, only to recur in subsequent pregnancies. In the non-pregnant state, hCG stimulation testing resulted in elevated cortisol levels. Serum cortisol was not suppressible with dexamethasone. The adrenals exhibited bilateral adrenal cortical nodular hyperplasia. Quantitative RT-PCR revealed a 2-fold increase in LHCGR and progesterone receptor mRNA expression and decreased estrogen receptor-beta expression in the patient's adrenal tissue relative to normal adrenals. Higher intensity of immunostaining for LHCGR was observed, particularly within the nodular lesions, compared to controls. Quantitative PCR revealed a LHCGR-to-beta-actin ratio of 1.5 in genomic DNA from adrenal and peripheral leukocytes, suggesting the presence of a germline duplication of the LHCGR gene. LHCGR overexpression resulting from germline gene duplication may be a potential pathogenic mechanism underlying this case of pregnancy-induced CS. |
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Authors:
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Michael Herman Chui; Michael Herman Chui; Nese Colak Ozbey; Shereen Ezzat; Yersu Kapran; Yesim Erbil; Sylvia L Asa |
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Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: Endocrine pathology Volume: 20 ISSN: 1559-0097 ISO Abbreviation: Endocr. Pathol. Publication Date: 2009 |
Date Detail:
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Created Date: 2009-11-06 Completed Date: 2010-03-18 Revised Date: 2010-04-29 |
Medline Journal Info:
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Nlm Unique ID: 9009288 Medline TA: Endocr Pathol Country: United States |
Other Details:
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Languages: eng Pagination: 256-61 Citation Subset: IM |
Affiliation:
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Department of Pathology, University Health Network, Toronto, ON, Canada M5G 2C4. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Abortion, Habitual
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etiology Adrenal Cortex / pathology* Adrenal Glands / chemistry, metabolism*, pathology Adrenalectomy Adult Chorionic Gonadotropin / diagnostic use Cushing Syndrome / etiology*, surgery Dexamethasone / diagnostic use Estrogen Receptor beta / genetics Female Gene Expression* Humans Hydrocortisone / blood Hyperplasia Leukocytes / chemistry Pregnancy Pregnancy Complications* RNA, Messenger / analysis Receptors, Corticotropin / genetics Receptors, LH / genetics* Receptors, Progesterone / genetics Reverse Transcriptase Polymerase Chain Reaction |
| Chemical | |
Reg. No./Substance:
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0/Chorionic Gonadotropin; 0/Estrogen Receptor beta; 0/RNA, Messenger; 0/Receptors, Corticotropin; 0/Receptors, LH; 0/Receptors, Progesterone; 50-02-2/Dexamethasone; 50-23-7/Hydrocortisone |
| Comments/Corrections | |
Erratum In:
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Endocr Pathol. 2010 Jun;21(2):148 Note: Herman Chui, Michael [corrected to Chui, Michael Herman] |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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