Anorchia

From WikiGenetics

1 Name of Condition
2 Definition
3 Description, Signs and Symptoms
4 Inheritance
5 Demographics
6 Diagnosis
7 Treatment and Management
8 Prognosis
9 Resources
10 References

[edit] Name of Condition

Anorchia, also known as Congenital Anorchia, Vanishing Testes Syndrome, or Testicular Regression Syndrome.

[edit] Definition

Anorchia is a condition in which males are born with no testicles, causing hormonal imbalance and a lack of secondary sex characteristics.

[edit] Description, Signs and Symptoms

Anorchia occurs when testicles fail to develop as a human embryo is developing. If the testicles fail to develop by 8 weeks, the baby will have female genitalia, despite having a male genotype with and X and a Y chromosome. If the testicles develop up until 8 weeks, but stop developing before 10 weeks, the baby will have elements of both male and female genitalia present. The critical period for male development is between 12 and 14 weeks, and if the testicles stop developing after this phase of development, external male genitalia will appear normal, but the testes will be absent.

Symptoms include:

Empty scrotum
Lack of secondary sex characteristics, especially at puberty

Tests include:

Testosterone levels (low)
FSH and LH levels (elevated)
X,Y karyotype
Ultrasound or MRI showing absent gonadal tissue
Bone density (low)
Anti-Mullerian hormone levels (low)
Surgical exploration to search for evidence of male gonadal tissue

[edit] Inheritance

Anorchia is not an inherited condition, and the causes of it are currently unknown, although in some cases it is suspected that there are genetic factors.

[edit] Demographics

[edit] Diagnosis

Absence of testes at birth is a telltale sign of anorchia, and various tests can confirm the diagnosis.

[edit] Treatment and Management

Boys must be treated with androgens (male sex hormones) to encourage normal development. Psychological support should be encouraged, and testicular implantation may be done.