Document Detail

Long-term clinical data and molecular defects in the STAR gene in five Greek patients.
MedLine Citation:
PMID:  23211570     Owner:  NLM     Status:  MEDLINE    
CONTEXT: Steroidogenic acute regulatory (STAR) gene mutations lead to adrenal and gonadal failure. Interesting, though as yet unexplained, features are the formation of ovarian cysts and the potential presence of CNS findings.
OBJECTIVE: To report biochemical, genetic, and long-term clinical data in five Greek patients from four different families with STAR gene defects (three 46,XX and two 46,XY).
METHODS AND RESULTS: All patients presented in early infancy with adrenal insufficiency. The STAR gene mutation c.834del11bp, detected in three of our patients, completely alters the carboxyl end of the STAR protein and has not thus far been described in other population groups. These three patients belong to three separate families, possibly genetically related, as they live in different villages located in a small region of a Greek island. However, their interrelationship has not been proven. A second mutation, p.W250X, detected in our fourth family, was previously described only in two Serbian patients. Ovarian cysts were detected ultrasonographically in our 46,XX patients and seemed to respond to a low dose of a contraceptive. The histology of an excised ovarian cyst was diagnosed as a corpus luteum (CL) cyst. In two out of the four patients who had undergone brain magnetic resonance imaging, asymptomatic Chiari-1 malformation was observed.
CONCLUSIONS: The occurrence of STAR gene mutation c.834del11bp in three families living in a restricted geographic region could indicate either a founder effect or simply reflect a spread of this defect in a highly related population. The ovarian histological findings suggest that ovarian cysts detected ultrasonographically in 46,XX individuals with STAR gene defects may be CL cysts. The Chiari-1 malformation in two of our patients may be part of the STAR gene mutation phenotype. Nevertheless, more data are needed to confirm or disprove the existence of specific CNS pathology in patients with STAR gene mutations.
Amalia Sertedaki; Maria Dracopoulou; Antonis Voutetakis; Kalliopi Stefanaki; Dimitra Rontogianni; Alexandra-Maria Magiakou; Christina Kanaka-Gantenbein; George Chrousos; Catherine Dacou-Voutetakis
Publication Detail:
Type:  Case Reports; Journal Article     Date:  2013-02-15
Journal Detail:
Title:  European journal of endocrinology / European Federation of Endocrine Societies     Volume:  168     ISSN:  1479-683X     ISO Abbreviation:  Eur. J. Endocrinol.     Publication Date:  2013 Mar 
Date Detail:
Created Date:  2013-02-18     Completed Date:  2013-04-08     Revised Date:  2013-05-08    
Medline Journal Info:
Nlm Unique ID:  9423848     Medline TA:  Eur J Endocrinol     Country:  England    
Other Details:
Languages:  eng     Pagination:  351-9     Citation Subset:  IM    
Division of Endocrinology, Diabetes and Metabolism, First Department of Pediatrics, Agia Sophia Children's Hospital, Athens University School of Medicine, Athens, Greece.
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MeSH Terms
46, XX Disorders of Sex Development / genetics*,  metabolism,  physiopathology*
46, XY Disorders of Sex Development / genetics*,  metabolism,  physiopathology
Adrenal Insufficiency / congenital,  etiology
Family Health
Genetic Association Studies
Infant, Newborn
Mediterranean Islands
Ovarian Cysts / etiology
Phosphoproteins / genetics*,  metabolism
Reg. No./Substance:
0/Phosphoproteins; 0/steroidogenic acute regulatory protein

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