AnorchiaVanishing testes - anorchia; Empty scrotum - anorchia; Scrotum - empty (anorchia)
Anorchia is the absence of both testes at birth.
The embryo develops early sex organs in the first several weeks of pregnancy. In some cases, early testes do not develop in males before 8 weeks into the pregnancy. These babies will be born with female sex organs.
In some cases, the testes disappear between 8 and 10 weeks. These babies will be born with ambiguous genitalia. This means the child will have parts of both male and female sex organs.
In some cases, the testes may disappear between 12 and 14 weeks. These babies will have normal penis and scrotum. However, they will not have any testes. This is known as congenital anorchia. It is also called 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 rather than the scrotum.
Symptoms may include:
- 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-Müllerian hormone levels
- Bone density
Follicle stimulating hormone (FSH) and luteinizing hormone (LH) levels
- Surgery to look for male reproductive tissue
- Testosterone levels (low)
- Ultrasound or MRI to look for testes in the abdomen
- XY 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 issues due to gender identification
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
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Chan Y-M, Hannema SE, Achermann JC, Hughes IA. Disorders of sex development. In: Melmed S, Auchus RJ, Goldfine AB, Koenig RJ, Rosen CJ, eds. Williams Textbook of Endocrinology. 14th ed. Philadelphia, PA: Elsevier; 2020:chap 24.
Yu RN, Diamond DA. Disorders of sexual development: etiology, evaluation, and medical management. In: Partin AW, Dmochowski RR, Kavoussi LR, Peters CA, eds. Campbell-Walsh-Wein Urology. 12th ed. Philadelphia, PA: Elsevier; 2021:chap 48.