C 17 Hydroxylase Deficiency: Causes, Symptoms, Diagnosis, and Treatment

C 17 Hydroxylase Deficiency: Causes, Symptoms, Diagnosis, and Treatment

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Focused Health Topics
Contributed byAlexander Enabnit+2 moreJul 04, 2023

Introduction:

C 17 Hydroxylase Deficiency, also known as 17α-hydroxylase deficiency, is a rare genetic disorder that affects the production of certain hormones in the body. It is an autosomal recessive disorder caused by mutations in the CYP17A1 gene. In this article, we will discuss the causes, symptoms, diagnosis, and treatment options for C 17 Hydroxylase Deficiency.

Causes:

C 17 Hydroxylase Deficiency is caused by mutations in the CYP17A1 gene, which plays a critical role in the production of hormones involved in steroid synthesis. These mutations lead to a deficiency in the enzyme 17α-hydroxylase, which is necessary for the conversion of pregnenolone to 17-hydroxypregnenolone, a key step in the production of cortisol and sex hormones.

Symptoms:

The symptoms of C 17 Hydroxylase Deficiency can vary depending on the severity of the enzyme deficiency and the specific hormones affected. Common symptoms may include:

  • Delayed or absent puberty
  • Ambiguous genitalia in females
  • Hypertension (high blood pressure)
  • Low levels of potassium
  • Sodium retention
  • Impaired fertility
  • Menstrual irregularities in females
  • Reduced secondary sexual characteristics
  • Short stature

Diagnosis:

Diagnosing C 17 Hydroxylase Deficiency involves a combination of clinical evaluation, hormone testing, and genetic testing. Hormone testing may include measuring levels of cortisol, sex hormones (such as estrogen and testosterone), and adrenal hormones. Genetic testing can identify mutations in the CYP17A1 gene, confirming the diagnosis.

Treatment:

The treatment of C 17 Hydroxylase Deficiency aims to manage the hormone imbalances and alleviate associated symptoms. Treatment options may include:

  • Hormone replacement therapy: Supplementing with glucocorticoids (such as hydrocortisone) and sex hormones (such as estrogen or testosterone) can help restore hormone balance and promote normal growth and development.
  • Blood pressure management: Antihypertensive medications may be prescribed to control high blood pressure.
  • Electrolyte correction: Sodium and potassium supplementation or restriction may be recommended to maintain proper electrolyte balance.
  • Fertility options: Assisted reproductive techniques may be explored for individuals with fertility issues.

Genetic counseling may also be recommended for individuals and families affected by C 17 Hydroxylase Deficiency.

Conclusion:

C 17 Hydroxylase Deficiency is a rare genetic disorder that affects hormone production and can lead to various symptoms and hormone imbalances. Early diagnosis and appropriate treatment can help manage the condition and improve quality of life. Individuals with suspected C 17 Hydroxylase Deficiency should consult with a healthcare provider for proper evaluation, diagnosis, and treatment.

Hashtags: #C17HydroxylaseDeficiency #GeneticDisorder #HormoneProduction #CYP17A1Gene #Diagnosis #Treatment #HormoneReplacementTherapy #BloodPressureManagement #FertilityOptions


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On the Article

Krish Tangella MD, MBA picture
Approved by

Krish Tangella MD, MBA

Pathology, Medical Editorial Board, DoveMed Team
Alexander Enabnit picture
Author

Alexander Enabnit

Senior Editorial Staff
Alexandra Warren picture
Author

Alexandra Warren

Senior Editorial Staff

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