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Long-term clinical data and molecular defects in the STAR gene in five Greek patients
Amalia Sertedaki1, Maria Dracopoulou, Antonis Voutetakis
1Division of Endocrinology, Diabetes and Metabolism, First Department of Pediatrics, Agia Sophia Children's Hospital, Athens University School of Medicine, Athens, Greece.
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.
Insights
Steroidogenic acute regulatory (STAR) gene mutations cause adrenal and gonadal failure. Greek patients with STAR defects exhibited ovarian cysts and Chiari-1 malformations, suggesting these may be part of the STAR mutation phenotype.
Area of Science:
- Endocrinology
- Genetics
- Pediatrics
Background:
- Steroidogenic acute regulatory (STAR) gene mutations are known to cause adrenal and gonadal failure.
- Ovarian cysts and central nervous system (CNS) findings are potential, yet unexplained, features associated with STAR gene defects.
Observation:
- This study reports on five Greek patients (three 46,XX and two 46,XY) with STAR gene defects, detailing their biochemical, genetic, and clinical data.
- Three patients presented with a novel STAR gene mutation (c.834del11bp), potentially linked to a founder effect in a specific Greek region.
- Ovarian cysts were observed in 46,XX patients and histologically identified as corpus luteum (CL) cysts, responding to contraceptive treatment. Asymptomatic Chiari-1 malformation was noted in two patients.
Findings:
- Adrenal insufficiency was the primary presentation in all patients during early infancy.
- The novel STAR mutation c.834del11bp, found in three families, significantly alters the STAR protein structure.
- Ovarian cysts in 46,XX individuals with STAR defects appear to be CL cysts, and Chiari-1 malformation may be part of the STAR mutation phenotype.
Implications:
- The high prevalence of the c.834del11bp mutation in a localized Greek population suggests a possible founder effect or genetic isolation.
- Ovarian cysts in STAR gene mutation patients may be a characteristic finding, potentially manageable with hormonal therapy.
- Further research is necessary to establish a definitive link between STAR gene mutations and CNS abnormalities like Chiari-1 malformation.
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