Cortisone reductase deficiency: Difference between revisions
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{{Infobox medical condition | |||
| name = Cortisone reductase deficiency | |||
| image = [[File:PDB_1xu7_EBI.jpg|250px]] | |||
| caption = Structure of cortisone reductase | |||
| field = [[Endocrinology]] | |||
| symptoms = [[Hirsutism]], [[irregular menstruation]], [[infertility]], [[obesity]], [[hypertension]] | |||
| complications = [[Metabolic syndrome]], [[polycystic ovary syndrome]] | |||
| onset = Typically in [[adolescence]] or [[early adulthood]] | |||
| duration = [[Chronic (medicine)|Chronic]] | |||
| causes = Genetic mutation in the [[HSD11B1]] gene | |||
| risks = Family history of the condition | |||
| diagnosis = [[Blood test]], [[urine test]], [[genetic testing]] | |||
| differential = [[Cushing's syndrome]], [[polycystic ovary syndrome]], [[congenital adrenal hyperplasia]] | |||
| treatment = [[Lifestyle modification]], [[medication]] | |||
| medication = [[Metformin]], [[spironolactone]] | |||
| prognosis = Variable, depending on management | |||
| frequency = Rare | |||
}} | |||
[[File:Cortisone_Reductase_Deficiency_effects_on_HPA_and_body.png|Cortisone Reductase Deficiency effects on HPA and body|thumb|left]] | |||
[[File:Cortisone_Reductase_Deficiency_effects_on_HPA_and_body_in_presence_of_deficient_H6PD.png|Cortisone Reductase Deficiency effects on HPA and body in presence of deficient H6PD|thumb|left]] | |||
'''Cortisone Reductase Deficiency''' is a rare genetic condition that affects the metabolism of certain hormones. It is characterized by a reduced ability to convert the hormone cortisone to cortisol. This condition is caused by mutations in the genes encoding the enzymes 11β-hydroxysteroid dehydrogenase type 1 (11β-HSD1) and hexose-6-phosphate dehydrogenase (H6PD). | |||
==Symptoms== | ==Symptoms== | ||
The symptoms of Cortisone Reductase Deficiency can vary widely, but often include [[hirsutism]], [[acne]], [[menstrual irregularities]], and [[obesity]]. Some individuals may also experience [[hypertension]], [[insulin resistance]], and [[glucose intolerance]]. | The symptoms of Cortisone Reductase Deficiency can vary widely, but often include [[hirsutism]], [[acne]], [[menstrual irregularities]], and [[obesity]]. Some individuals may also experience [[hypertension]], [[insulin resistance]], and [[glucose intolerance]]. | ||
==Causes== | ==Causes== | ||
Cortisone Reductase Deficiency is caused by mutations in the [[HSD11B1]] and [[H6PD]] genes. These genes encode the enzymes | Cortisone Reductase Deficiency is caused by mutations in the [[HSD11B1]] and [[H6PD]] genes. These genes encode the enzymes 11β-HSD1 and H6PD, respectively, which are involved in the conversion of cortisone to cortisol. | ||
==Diagnosis== | ==Diagnosis== | ||
Diagnosis of Cortisone Reductase Deficiency is typically made through a combination of clinical examination, laboratory testing, and genetic testing. The diagnosis is confirmed by finding elevated levels of cortisone and reduced levels of cortisol in the urine, and by identifying mutations in the HSD11B1 and H6PD genes. | Diagnosis of Cortisone Reductase Deficiency is typically made through a combination of clinical examination, laboratory testing, and genetic testing. The diagnosis is confirmed by finding elevated levels of cortisone and reduced levels of cortisol in the urine, and by identifying mutations in the HSD11B1 and H6PD genes. | ||
==Treatment== | ==Treatment== | ||
Treatment for Cortisone Reductase Deficiency is aimed at managing the symptoms and may include hormone replacement therapy, lifestyle modifications, and medications to control hypertension and insulin resistance. | Treatment for Cortisone Reductase Deficiency is aimed at managing the symptoms and may include hormone replacement therapy, lifestyle modifications, and medications to control hypertension and insulin resistance. | ||
==See Also== | ==See Also== | ||
* [[Hormone]] | * [[Hormone]] | ||
| Line 19: | Line 36: | ||
* [[HSD11B1]] | * [[HSD11B1]] | ||
* [[H6PD]] | * [[H6PD]] | ||
[[Category:Genetic disorders]] | [[Category:Genetic disorders]] | ||
[[Category:Endocrine disorders]] | [[Category:Endocrine disorders]] | ||
[[Category:Rare diseases]] | [[Category:Rare diseases]] | ||
{{stub}} | {{stub}} | ||
Latest revision as of 13:39, 5 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
| Cortisone reductase deficiency | |
|---|---|
| |
| Synonyms | N/A |
| Pronounce | N/A |
| Specialty | N/A |
| Symptoms | Hirsutism, irregular menstruation, infertility, obesity, hypertension |
| Complications | Metabolic syndrome, polycystic ovary syndrome |
| Onset | Typically in adolescence or early adulthood |
| Duration | Chronic |
| Types | N/A |
| Causes | Genetic mutation in the HSD11B1 gene |
| Risks | Family history of the condition |
| Diagnosis | Blood test, urine test, genetic testing |
| Differential diagnosis | Cushing's syndrome, polycystic ovary syndrome, congenital adrenal hyperplasia |
| Prevention | N/A |
| Treatment | Lifestyle modification, medication |
| Medication | Metformin, spironolactone |
| Prognosis | Variable, depending on management |
| Frequency | Rare |
| Deaths | N/A |
Cortisone Reductase Deficiency is a rare genetic condition that affects the metabolism of certain hormones. It is characterized by a reduced ability to convert the hormone cortisone to cortisol. This condition is caused by mutations in the genes encoding the enzymes 11β-hydroxysteroid dehydrogenase type 1 (11β-HSD1) and hexose-6-phosphate dehydrogenase (H6PD).
Symptoms[edit]
The symptoms of Cortisone Reductase Deficiency can vary widely, but often include hirsutism, acne, menstrual irregularities, and obesity. Some individuals may also experience hypertension, insulin resistance, and glucose intolerance.
Causes[edit]
Cortisone Reductase Deficiency is caused by mutations in the HSD11B1 and H6PD genes. These genes encode the enzymes 11β-HSD1 and H6PD, respectively, which are involved in the conversion of cortisone to cortisol.
Diagnosis[edit]
Diagnosis of Cortisone Reductase Deficiency is typically made through a combination of clinical examination, laboratory testing, and genetic testing. The diagnosis is confirmed by finding elevated levels of cortisone and reduced levels of cortisol in the urine, and by identifying mutations in the HSD11B1 and H6PD genes.
Treatment[edit]
Treatment for Cortisone Reductase Deficiency is aimed at managing the symptoms and may include hormone replacement therapy, lifestyle modifications, and medications to control hypertension and insulin resistance.
