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Anorchia
Vanishing testes - anorchia; Empty scrotum - anorchia; Scrotum - empty (anorchia)
Anorchia is the absence of both testes at birth.
Testes
The testes are 2 egg-shaped male reproductive organs located in the scrotum. They produce sperm and the male hormone, testosterone.
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.
Ambiguous genitalia
Ambiguous genitalia is a birth defect where the outer genitals do not have the typical appearance of either a boy or a girl.
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.
Bilateral undescended testes
Undescended testicle occurs when one or both testicles fail to move into the scrotum before birth.
Symptoms
Symptoms may include:
- Normal outside genitals before puberty
-
Failure to start
puberty
at the correct time
Puberty
Well child - puberty in boys; Development - puberty in boys
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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
Bone density
A bone mineral density (BMD) test measures how much calcium and other types of minerals are in an area of your bone. This test helps your health care...
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Follicle stimulating hormone (
FSH
) and luteinizing hormone (
LH
) levels
FSH
The follicle stimulating hormone (FSH) blood test measures the level of FSH in blood. FSH is a hormone released by the pituitary gland, located on t...
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The LH blood test measures the amount of luteinizing hormone (LH) in blood. LH is a hormone released by the pituitary gland, located on the undersid...
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-
Testosterone levels
(low)
Testosterone levels
A testosterone test measures the amount of the male hormone, testosterone, in the blood. Both men and women produce this hormone. The test described...
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Ultrasound
or
MRI
to look for testes in the abdomen
Ultrasound
Ultrasound uses high-frequency sound waves to make images of organs and structures inside the body.
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A magnetic resonance imaging (MRI) scan is an imaging test that uses powerful magnets and radio waves to create pictures of the body. It does not us...
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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.
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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 - illustration
The male reproductive system, viewed from a sagittal section.
Male reproductive system
illustration
-
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 - illustration
The male reproductive system, viewed from a sagittal section.
Male reproductive system
illustration
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.
