Absence of the Testes, Congenital or Acquired

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

[edit] Name of Condition

Anorchia, also referred to as vanishing testes or empty scrotum

[edit] Definition

Absence of both testes at birth

[edit] Description, Signs and Symptoms

Normal outside genitalia before puberty
Failure to enter puberty at expected time and lack of secondary sex characteristics (growth of penis, body and pubic hair growth, deepening of the voice, and increase in muscle mass)

During the first several weeks after fertilization, the embryo develops sex organs, which play an important role in the overall development of internal and external genitalia. If the testes are lost after the critical phase of male differentiation between 12 and 14 weeks, the fetus will have normal male internal and external genitalia (penis and scrotum), but the testes will not be present. This condition is what is known as congenital anorchia, or the "vanishing testes syndrome".

[edit] Inheritance

Although the specific cause is unknown, genetic factors are apparent in some cases.

[edit] Diagnosis

Clinical observations can determine the signs of an empty scrotum or lack of secondary sex characteristics.

Tests can be performed to determine the following:

Low testosterone levels
Elevated FSH and LH levels
X,Y karyotype
Ultrasound or MRI showing absent gonadal tissue
Low bone density
Low Anti-Mullerian hormone levels
Evidence of male gonadal tissue
Failure of testosterone to rise after hCG distinguishes anorchia from cryptorchidism