Anorchia
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Vanishing testes - anorchia; Empty scrotum - anorchia; Scrotum - empty (anorchia)
Anorchia is the absence of both testes at birth.
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Causes
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
Symptoms may include:
- Normal outside genitals before puberty
- Failure to start puberty at the correct time
Exams and Tests
Signs include:
- Empty scrotum
- Lack of male sex characteristics (penis and pubic hair growth, deepening of the voice, and increase in muscle mass)
Tests include:
- 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
Treatment
Treatment includes:
- Artificial (prosthetic) testicle implants
- Male hormones (androgens)
- Psychological support
Outlook (Prognosis)
The outlook is good with treatment.
Possible Complications
Complications include:
- Face, neck, or back abnormalities in some cases
- Infertility
- Psychological issues due to gender identification
When to Contact a Medical Professional
Contact 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
Related Information
| TestesAmbiguous genitali...Infertility | Infertility in wom... |
References
Ali O, Donohoue PA. Hypofunction of the testes. In: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Nelson Textbook of Pediatrics. 21st ed. Philadelphia, PA: Elsevier; 2020:chap 601.
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.
