Document Detail


McCune-Albright syndrome (MAS): early and extensive bone fibrous dysplasia involvement and "mistaken identity" oophorectomy.
MedLine Citation:
PMID:  21073128     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
BACKGROUND: McCune-Albright syndrome (MAS) is a triad of gonadotropin-independent precocious puberty (GIPP), café-au-lait spots (CALS) and fibrous dysplasia (FD) of bone. The extent of the abnormalities is variable.
PATIENT AND RESULTS: We report a 3 year old girl with CALS since infancy, FD diagnosed at age of 2.5 years, and at the age of 3 years vaginal bleeding. The ultrasound revealed a cystic mass of the ovary, surgical pathology found ovarian cyst. LHRH stimulation demonstrated GIPP (LH 9.8 mIU/ml and FSH 8.9 mIU/ml; normal LH 1.8-10, FSH 9-26 mIU/ml). Radiographs and bone scans demonstrated FD in multiple bones. Peripheral leucocytes and the ovary were negative for GNAS gene mutations. Treatment with Letrasole interrupted the pubertal development.
CONCLUSIONS: We conclude that the clinical signs of MAS are telling and that timely MAS diagnosis prevents unnecessary oophorectomy. A close follow up is recommended regarding development of endocrine disorders and spreading of FD.
Authors:
Zoran Gucev; Velibor Tasic; Aleksandra Jancevska; Marina Krstevska-Konstantinova; Nada Pop-Jordanova
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Journal of pediatric endocrinology & metabolism : JPEM     Volume:  23     ISSN:  0334-018X     ISO Abbreviation:  J. Pediatr. Endocrinol. Metab.     Publication Date:  2010 Aug 
Date Detail:
Created Date:  2010-11-15     Completed Date:  2010-11-30     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9508900     Medline TA:  J Pediatr Endocrinol Metab     Country:  England    
Other Details:
Languages:  eng     Pagination:  837-42     Citation Subset:  IM    
Affiliation:
Faculty of Medicine Skopje, 50 Divizija BB, 1000 Skopje, Macedonia. gucevz@gmail.com
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MeSH Terms
Descriptor/Qualifier:
Aromatase Inhibitors / therapeutic use
Child, Preschool
Female
Fibrous Dysplasia, Polyostotic / diagnosis*,  drug therapy
Follicle Stimulating Hormone / blood
Gonadotropin-Releasing Hormone / blood
Humans
Luteinizing Hormone / blood
Nitriles / therapeutic use
Ovarian Cysts / surgery,  ultrasonography
Ovariectomy
Puberty, Precocious / diagnosis
Triazoles / therapeutic use
Uterine Hemorrhage / pathology
Chemical
Reg. No./Substance:
0/Aromatase Inhibitors; 0/Nitriles; 0/Triazoles; 112809-51-5/letrozole; 33515-09-2/Gonadotropin-Releasing Hormone; 9002-67-9/Luteinizing Hormone; 9002-68-0/Follicle Stimulating Hormone

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


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