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Anorchia

Definition

Anorchia is the absence of both testes at birth.

Alternative Names

Vanishing testes - anorchia; Empty scrotum - anorchia; Scrotum - empty (anorchia)

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.

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:

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

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

References

Achermann JC, Hughes IA. Pediatric disorders of sex development. In: Melmed S, Polonsky KS, Larsen PR, Kronenberg HM, eds. Williams Textbook of Endocrinology. 13th ed. Philadelphia, PA: Elsevier; 2016:chap 23.

Ali O, Donohoue PA. Hypofunction of the testes. In: Kliegman RM, Stanton BF, St. Geme JW, Schor NF, eds. Nelson Textbook of Pediatrics. 20th ed. Philadelphia, PA: Elsevier; 2016:chap 583.

Diamond DA, Yu RN. Disorders of sexual development: etiology, evaluation, and medical management. In: Wein AJ, Kavoussi LR, Partin AW, Peters CA, eds. Campbell-Walsh Urology. 11th ed. Philadelphia, PA: Elsevier; 2016:chap 150.

Review Date:10/4/2016
Reviewed By:Jennifer Sobol, DO, urologist with the Michigan Institute of Urology, West Bloomfield, MI. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Isla Ogilvie, PhD, and the A.D.A.M. Editorial team.

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Outcome Data

No data available for this condition/procedure.

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