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Anorchia

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

 

Anorchia is the absence of both testes at birth.

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:

  • 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

 

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.

 
  • Male reproductive anatomy

    Male reproductive anatomy - illustration

    The male reproductive structures include the penis, the scrotum, the seminal vesicles and the prostate.

    Male reproductive anatomy

    illustration

  • Male reproductive system

    Male reproductive system - illustration

    The male reproductive system, viewed from a sagittal section.

    Male reproductive system

    illustration

    • Male reproductive anatomy

      Male reproductive anatomy - illustration

      The male reproductive structures include the penis, the scrotum, the seminal vesicles and the prostate.

      Male reproductive anatomy

      illustration

    • Male reproductive system

      Male reproductive system - illustration

      The male reproductive system, viewed from a sagittal section.

      Male reproductive system

      illustration

    Tests for Anorchia

     

       

      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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