Anorchia is the absence of both testes at birth.
Vanishing testes - anorchia; Empty scrotum - anorchia; Scrotum - empty (anorchia)
The embryo develops early sex organs in the first several weeks after the egg is fertilized. If early testes do not develop in males before 8 weeks into the pregnancy, the baby will have female genitals.
If the testes disappear between 8 and 10 weeks, the baby will be born with ambiguous genitalia. This means the child will have parts of both male and female genitals.
However, if the testes disappear between 12 and 14 weeks, the baby will have normal male genitals (penis and scrotum), but no testes. This is known as congenital anorchia, or the "vanishing testes syndrome."
The cause is unknown. Genetic factors may be involved in some cases. .
This condition should not be confused with bilateral undescended testes, in which the testes are located in the abdomen or groin.
- Normal outside genitals before puberty
- Failure to start puberty at the correct time
Exams and Tests
- Empty scrotum
- Lack of male sex characteristics (penis and pubic hair growth, deepening of the voice, and increase in muscle mass)
- Anti-Mullerian hormone levels
- Bone density
- FSH and LH levels
- Surgery to look for male reproductive tissue
- Testosterone levels (low)
- Ultrasound or MRI to look for testes in the abdomen
- X,Y karyotype
- Artificial (prosthetic) testicle implants
- Male hormones (androgens)
- Psychological support
The outlook is good with treatment.
- Face, neck, or back abnormalities in some cases
- Psychological problems due to gender
When to Contact a Medical Professional
Call your health care provider if a male child:
- Appears to have extremely small or absent testicles
- Does not seem to be starting puberty during his early teens
Achermann JC, Hughes JA. Disorders of sex development. In: Melmed S, Polonsky KS, Larsen PR, Kronenberg HM, eds. Williams Textbook of Endocrinology. 12th ed. Philadelphia, PA: Elsevier Saunders; 2011:chap 23.