Cortisone reductase deficiency

Editor-In-Chief: Prab R Tumpati, MD
Obesity, Sleep & Internal medicine
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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 effects on HPA and body

Cortisone Reductase Deficiency effects on HPA and body in presence of deficient H6PD

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

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

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 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 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

• Hormone
• Metabolism
• Genetic disorder
• HSD11B1
• H6PD

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