Srb's anomaly: Difference between revisions
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* Srb, R. (1960). "A new syndrome with familial hypopituitarism". Journal of Clinical Endocrinology and Metabolism. 20: 1309–1318. | * Srb, R. (1960). "A new syndrome with familial hypopituitarism". Journal of Clinical Endocrinology and Metabolism. 20: 1309–1318. | ||
* Kelberman, D.; Rizzoti, K.; Avilion, A.; et al. (2006). "Mutations within Sox2/SOX2 are associated with abnormalities in the hypothalamo-pituitary-gonadal axis in mice and humans". Journal of Clinical Investigation. 116: 2442–2455. | * Kelberman, D.; Rizzoti, K.; Avilion, A.; et al. (2006). "Mutations within Sox2/SOX2 are associated with abnormalities in the hypothalamo-pituitary-gonadal axis in mice and humans". Journal of Clinical Investigation. 116: 2442–2455. | ||
== Srb's anomaly == | |||
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Revision as of 01:52, 17 February 2025
Srb's anomaly is a rare genetic disorder characterized by the absence of the pituitary gland, which leads to a variety of health problems. The condition is named after the Serbian physician who first described it, Dr. Radivoj Srb.
Symptoms and Signs
The symptoms of Srb's anomaly can vary greatly from person to person. However, common symptoms include growth retardation, hypoglycemia, and hypothyroidism. Other symptoms may include adrenal insufficiency, hypogonadism, and diabetes insipidus.
Causes
Srb's anomaly is caused by mutations in the PROP1 gene. This gene provides instructions for making a protein that is involved in the development of the pituitary gland. Mutations in the PROP1 gene disrupt the normal development of the pituitary gland, leading to the symptoms of Srb's anomaly.
Diagnosis
The diagnosis of Srb's anomaly is typically made based on the presence of characteristic symptoms, a detailed patient history, a thorough clinical evaluation, and a variety of specialized tests. These tests may include magnetic resonance imaging (MRI), computed tomography (CT) scan, and genetic testing.
Treatment
There is currently no cure for Srb's anomaly. Treatment is symptomatic and supportive. This may include hormone replacement therapy to manage symptoms of hypothyroidism, adrenal insufficiency, and hypogonadism. In some cases, surgery may be necessary to remove any pituitary tumors that may be present.
Prognosis
The prognosis for individuals with Srb's anomaly varies. Some individuals may have a normal lifespan with appropriate treatment, while others may experience serious complications and have a shortened lifespan.
See also
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References
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External links
- PROP1 gene - Genetics Home Reference
- Srb's anomaly - National Organization for Rare Disorders
Further reading
- Srb, R. (1960). "A new syndrome with familial hypopituitarism". Journal of Clinical Endocrinology and Metabolism. 20: 1309–1318.
- Kelberman, D.; Rizzoti, K.; Avilion, A.; et al. (2006). "Mutations within Sox2/SOX2 are associated with abnormalities in the hypothalamo-pituitary-gonadal axis in mice and humans". Journal of Clinical Investigation. 116: 2442–2455.
