Document Detail


A case of Costello with parathyroid adenoma and hyperprolactinemia.
MedLine Citation:
PMID:  14699620     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
A 23-year-old female with Costello syndrome is presented. She had mental retardation, macrocephalia, "coarse" facial features, deep palmar and plantar creases, hyperkeratosis in palms and soles, hyperpigmentation, curly hair, and cutis laxa, which are among the diagnostic features of the syndrome, and a history of hyperprolactinemia since the age of 16. Her present complaint was weakness and widespread bone-pain. In routine biochemistry, she had an elevated calcium level of 11.1 (8.6-10.2) mg/dl and her DEXA evaluation was consistent with osteoporosis (vertebra and femur T score <-2.5). High PTH levels, 103 (8-78) pg/ml, suggested presence of a parathyroid adenoma. Tc-MIBI scintigraphy revealed two focuses of pathological uptake, one located inferior to left lobe of thyroid and the other in the superior left lobe of thyroid gland. After parathyroid adenomectomy, her serum calcium and PTH levels returned to normal values. This is the first case of parathyroid adenoma and hyperprolactinemia in the literature, reported in a patient with Costello syndrome.
Authors:
Mehtap Cakir; Cumhur Arici; Sukran Tacoy; Umit Karayalcin
Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  American journal of medical genetics. Part A     Volume:  124A     ISSN:  1552-4825     ISO Abbreviation:  Am. J. Med. Genet. A     Publication Date:  2004 Jan 
Date Detail:
Created Date:  2003-12-30     Completed Date:  2004-07-28     Revised Date:  2008-05-21    
Medline Journal Info:
Nlm Unique ID:  101235741     Medline TA:  Am J Med Genet A     Country:  United States    
Other Details:
Languages:  eng     Pagination:  196-9     Citation Subset:  IM    
Copyright Information:
Copyright 2003 Wiley-Liss, Inc.
Affiliation:
Endocrinology and Metabolism, Akdeniz University School of Medicine, Antalya, Turkey. cakirmehtap@yahoo.com
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MeSH Terms
Descriptor/Qualifier:
Abnormalities, Multiple / genetics,  pathology*
Adenoma / pathology*
Adult
Female
Growth Disorders / pathology
Humans
Hyperprolactinemia / pathology*
Karyotyping
Mental Retardation / pathology
Parathyroid Neoplasms / pathology*
Syndrome

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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