Document Detail

Case report: Adrenal LH/hCG receptor overexpression and gene amplification causing pregnancy-induced Cushing's syndrome.
MedLine Citation:
PMID:  19705299     Owner:  NLM     Status:  MEDLINE    
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.
Michael Herman Chui; Michael Herman Chui; Nese Colak Ozbey; Shereen Ezzat; Yersu Kapran; Yesim Erbil; Sylvia L Asa
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Endocrine pathology     Volume:  20     ISSN:  1559-0097     ISO Abbreviation:  Endocr. Pathol.     Publication Date:  2009  
Date Detail:
Created Date:  2009-11-06     Completed Date:  2010-03-18     Revised Date:  2010-04-29    
Medline Journal Info:
Nlm Unique ID:  9009288     Medline TA:  Endocr Pathol     Country:  United States    
Other Details:
Languages:  eng     Pagination:  256-61     Citation Subset:  IM    
Department of Pathology, University Health Network, Toronto, ON, Canada M5G 2C4.
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MeSH Terms
Abortion, Habitual / etiology
Adrenal Cortex / pathology*
Adrenal Glands / chemistry,  metabolism*,  pathology
Chorionic Gonadotropin / diagnostic use
Cushing Syndrome / etiology*,  surgery
Dexamethasone / diagnostic use
Estrogen Receptor beta / genetics
Gene Expression*
Hydrocortisone / blood
Leukocytes / chemistry
Pregnancy Complications*
RNA, Messenger / analysis
Receptors, Corticotropin / genetics
Receptors, LH / genetics*
Receptors, Progesterone / genetics
Reverse Transcriptase Polymerase Chain Reaction
Reg. No./Substance:
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
Erratum In:
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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