Srb's anomaly: Difference between revisions
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{{SI}} | |||
{{Infobox medical condition | |||
| name = Srb's anomaly | |||
| image = [[File:Srb-Anomalie_rechts_64-71M_-_CR_pa_und_CT_Volumen_Rendering_-_001.jpg]] | |||
| caption = X-ray and CT volume rendering of Srb's anomaly | |||
| field = [[Orthopedics]] | |||
| synonyms = [[Supraclavicular rib]] | |||
| symptoms = Usually asymptomatic | |||
| complications = Rarely, [[thoracic outlet syndrome]] | |||
| onset = Congenital | |||
| duration = Lifelong | |||
| causes = Developmental anomaly | |||
| risks = None known | |||
| diagnosis = [[Radiography]] | |||
| differential = [[Cervical rib]], [[Clavicle fracture]] | |||
| treatment = None required | |||
| prognosis = Excellent | |||
| frequency = Rare | |||
}} | |||
'''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. | '''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 == | == 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]]. | 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 == | == 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. | 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 == | == 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]]. | 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 == | == 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. | 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 == | == 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. | 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 == | == See also == | ||
* [[Pituitary gland]] | * [[Pituitary gland]] | ||
* [[Genetic disorder]] | * [[Genetic disorder]] | ||
* [[Hormone replacement therapy]] | * [[Hormone replacement therapy]] | ||
== References == | == References == | ||
<references /> | <references /> | ||
== External links == | == External links == | ||
* [https://www.ncbi.nlm.nih.gov/gene/PROP1 PROP1 gene] - Genetics Home Reference | * [https://www.ncbi.nlm.nih.gov/gene/PROP1 PROP1 gene] - Genetics Home Reference | ||
* [https://rarediseases.org/rare-diseases/srbs-anomaly/ Srb's anomaly] - National Organization for Rare Disorders | * [https://rarediseases.org/rare-diseases/srbs-anomaly/ Srb's anomaly] - National Organization for Rare Disorders | ||
[[Category:Genetic disorders]] | |||
[[Category:Endocrine diseases]] | |||
[[Category:Rare diseases]] | |||
{{stub}} | |||
Latest revision as of 22:49, 6 April 2025
Editor-In-Chief: Prab R Tumpati, MD
Obesity, Sleep & Internal medicine
Founder, WikiMD Wellnesspedia &
W8MD medical weight loss NYC and sleep center NYC
| Srb's anomaly | |
|---|---|
| |
| Synonyms | Supraclavicular rib |
| Pronounce | N/A |
| Specialty | N/A |
| Symptoms | Usually asymptomatic |
| Complications | Rarely, thoracic outlet syndrome |
| Onset | Congenital |
| Duration | Lifelong |
| Types | N/A |
| Causes | Developmental anomaly |
| Risks | None known |
| Diagnosis | Radiography |
| Differential diagnosis | Cervical rib, Clavicle fracture |
| Prevention | N/A |
| Treatment | None required |
| Medication | N/A |
| Prognosis | Excellent |
| Frequency | Rare |
| Deaths | N/A |
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[edit]
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[edit]
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[edit]
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[edit]
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[edit]
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[edit]
References[edit]
<references />
External links[edit]
- PROP1 gene - Genetics Home Reference
- Srb's anomaly - National Organization for Rare Disorders
