Aromatase Deficiency

Definition

Definition of Aromatase Deficiency
Aromatase deficiency is a condition resulting from insufficient production of the enzyme aromatase, which can lead to inappropriate virilization.

Symptoms

Symptoms of Aromatase Deficiency
The list of signs and symptoms for Aromatase deficiency listed below:

1. Eunucoid males
2. Males with female build
3. Female pseudohermaphrodism
4. Obesity
5. Genuvalgum
6. Late puberty
7. Hypogonadism
8. Metabolism anomalies
9. Osteoporosis
10. Epiphyseal anomaly
11. Liver disease
12. Small testes
13. Sterility
14. Reduced fertility
15. Underdeveloped breasts in females
16. Primary amenorrhea
17. Multicystic ovaries
18. Tall stature
19. Steatohepatitis
20. Insulin resistance
21. Acanthosis nigrans
22. High triglyceride level

Causes

Causes of Aromatase Deficiency
The list of causes for Aromatase deficiency listed below:

1. Genetic conditions
2. Metabolic conditions
3. Congenital conditions - metabolic disorders
4. Congenital conditions

Diagnosis

Diagnosis of Aromatase Deficiency
In adult females, manifestations include delay of puberty, breast hypoplasia and primary amenorrhea with multicystic ovaries. In men, diagnosis occurs later during adulthood, with tall stature due to incomplete epiphyseal closure, eunuchoid proportion of the skeleton, associated with osteoporosis and obesity. Administration of low doses of estrogen leads to bone maturation after complete epiphyseal closure and to an increase in bone mineral density. In blood plasma, levels of estrogens are very low while FSH, LH and testosterone are slightly increased.

Treatment

Treatment of Aromatase Deficiency
Consult with your doctor.

Prognosis

Prognosis of Aromatase Deficiency
There are several alternative exons one with a tissue-specific expression, each of which is associated with a distinct promoter. Corresponding mRNAs differ by their 5' termini but produce a single identical protein.

Prevention

Prevention of Aromatase Deficiency
Consult with your doctor.