Table 1: Outline of the article
1. Introduction to 17 Beta Hydroxysteroid Dehydrogenase Deficiency (17-BHSD)
2. What causes 17-BHSD?
3. How is 17-BHSD diagnosed?
4. Symptoms of 17-BHSD
5. Treatment options for 17-BHSD
6. DHEAS to testosterone ratio
7. Adrenal androgen excess in females with 17-BHSD
8. Managing 17-BHSD during pregnancy
9. Effect of 17-BHSD on fertility
10. Medications to avoid for patients with 17-BHSD
11. Prevention and control of 17-BHSD
12. Link between 17-BHSD and polycystic ovary syndrome (PCOS)
13. Gene mutations and their impact on 17-BHSD
14. Long-term consequences of untreated 17-BHSD
Table 2: Article
#New Research Sheds Light on Diagnosing and Managing 17 Beta Hydroxysteroide Dehydrogenase Deficiency
17 Beta Hydroxysteroid Dehydrogenase Deficiency (17-BHSD) is a rare genetic disorder that affects the production of sex hormones such as testosterone and estrogen. Research shows that 17-BHSD can lead to a range of hormonal imbalances and other medical conditions. This article aims to provide a comprehensive overview of the condition, including its causes, symptoms, diagnosis, treatment options, and preventative measures.
##What causes 17-BHSD?
17-BHSD is caused by a mutation in the HSD17B3 gene, which is responsible for the production of 17-BHSD enzyme. This enzyme helps in the conversion of testosterone to dihydrotestosterone (DHT). A lack of 17-BHSD, therefore, leads to a build-up of testosterone, while DHT levels decrease, resulting in hormonal imbalances.
The condition can be inherited from one or both parents who carry the mutated gene. However, many people born with the mutated gene do not develop the disorder.
##How is 17-BHSD diagnosed?
17-BHSD can be diagnosed through various hormonal tests, including measuring serum testosterone, free testosterone, and dihydrotestosterone levels. These tests can also be used to evaluate the DHEAS to testosterone ratio, which helps in determining the cause of hormonal imbalances.
Further, ultrasound, MRI, and other imaging tests can help doctors check for enlarged adrenal glands, which can be a sign of the condition.
##Symptoms of 17-BHSD
17-BHSD can lead to a variety of symptoms such as:
– Delayed puberty
– Hirsutism (excessive hair growth)
– Oligomenorrhea (irregular periods)
– Virilization (development of male-like physical traits)
The severity of symptoms varies from person to person depending on the degree of hormonal imbalance.
##Treatment options for 17-BHSD
Treatment for 17-BHSD depends on the severity of the symptoms, age, and overall health of the patient. Hormonal therapy is the most common form of treatment, and it aims to restore hormonal balance by reducing testosterone levels. Another treatment option is surgical removal of the ovaries or testes (in males), which produce excess androgens.
##DHEAS to testosterone ratio
Recent research shows that the DHEAS to testosterone ratio is a vital tool for diagnosing 17-BHSD. A low ratio of DHEAS to testosterone is an indication of the condition, which means that testing this ratio can help screen those at risk of the disorder.
##Adrenal androgen excess in females with 17-BHSD
17-BHSD can cause women to develop an excess of adrenal androgens, which contributes to the clinical presentation of the disorder. During pregnancy, the abnormal hormonal balance may lead to complications such as preterm labor, stillbirth, and fetal growth restriction.
##Managing 17-BHSD during pregnancy
Pregnant women with 17-BHSD should receive regular prenatal care, including monitoring of maternal serum testosterone levels. Hormonal therapy is not recommended during pregnancy, and surgery to remove the ovaries or testes should be delayed until after delivery.
##Effect of 17-BHSD on fertility
17-BHSD affects fertility and can cause delay in the onset of puberty. Hormonal therapy can help prevent complications such as infertility and improve the chances of successful pregnancy.
##Medications to avoid for patients with 17-BHSD
Patients with 17-BHSD should avoid taking medications that increase androgen levels such as anabolic steroids, oral contraceptives, and some antidepressants. These drugs can exacerbate hormonal imbalances and worsen symptoms.
##Prevention and control of 17-BHSD
As it is a genetic disorder, there is no guaranteed way to prevent 17-BHSD. However, genetic counseling is recommended for those who have a family history of the condition.
##Link between 17-BHSD and polycystic ovary syndrome (PCOS)
The research has found that there is a connection between 17-BHSD and PCOS, which can cause irregular menstrual cycles, fertility problems, and high levels of androgens. However, the two conditions are distinct, and each has its own set of symptoms and causes.
##Gene mutations and their impact on 17-BHSD
There is a range of mutations in the HSD17B3 gene, which can cause variable degrees of impairment of the enzyme. Research suggests that the type and severity of the mutation can impact the clinical presentation of the disorder, from mild to severe.
##Long-term consequences of untreated 17-BHSD
Untreated 17-BHSD can lead to the development of severe medical conditions such as polycystic ovary syndrome, metabolic syndrome, and diabetes. As a result, patients with 17-BHSD require regular medical monitoring.
In conclusion, 17-BHSD is a rare genetic disorder caused by a mutation in the HSD17B3 gene. The condition leads to hormonal imbalances that can result in a variety of symptoms and medical complications. Early diagnosis and appropriate treatment can help manage symptoms and prevent long-term health consequences.
1. Can 17-BHSD affect both males and females?
Yes, 17-BHSD can affect both males and females.
2. Is there a cure for 17-BHSD?
No, there is no known cure for 17-BHSD. However, hormonal therapy can help manage symptoms and prevent complications.
3. Can 17-BHSD be inherited?
Yes, 17-BHSD can be inherited from one or both parents who carry the mutated gene.
4. What hormones are affected by 17-BHSD?
17-BHSD affects the production of sex hormones such as testosterone and estrogen.
5. Does 17-BHSD increase the risk of cancer?
There is limited research on this topic. However, some studies suggest that hormonal imbalances caused by 17-BHSD may increase the risk of cancer, including ovarian and breast cancer.