DefinitionAnorchia is the absence of both testes at birth.
Alternative NamesVanishing testes - anorchia; Empty scrotum - anorchia; Scrotum - empty (anorchia)
Causes, incidence, and risk factorsIn the first several weeks after the egg is fertilized, the embryo develops early sex organs. In the male, if the early testes fail to develop before 8 weeks into the pregnancy, the baby will have female genitals.If the testes are lost between 8 and 10 weeks, the baby will be born with ambiguous genitalia. This means the child will have parts of both male and female genitals.However, if the testes are lost after the time when the male genitals differentiate (between 12 and 14 weeks), the baby will have normal male genitals (penis and scrotum), but no testes. This is known as congenital anorchia, or the "vanishing testes syndrome."The cause is unknown, but in some cases there are genetic factors.
SymptomsNormal outside genitals before pubertyFailure to start puberty at the correct time and lack of secondary sex characteristics (penis and pubic hair growth, deepening of the voice, and increase in muscle mass)
Signs and testsSigns include:Empty scrotumLack of secondary sex characteristicsTests include:Anti-Mullerian hormone levelsBone densityFSH and LH levelsSurgery to look for male reproductive tissueTestosterone levels (low)Ultrasound or MRIX,Y karyotype
TreatmentTreatment includes:Artificial (prosthetic) testicle implants Male hormones (androgens)Psychological support
Expectations (prognosis)The outlook is good with treatment.
ComplicationsComplications include:Face, neck, or back abnormalities (occasionally)InfertilityPsychological problems due to gender
Calling your health care providerCall your health care provider if your male child appears to have extremely small or absent testicles or does not appear to be entering puberty during his early teens.
ReferencesLambert SM, Vilain EJ, Kolon TF. A practical approach to ambiguous genitalia in the newborn period. Urol Clin North Am. 2010 May;37(2):195-205.Achermann JC, Hughes JA. Disorders of sex development. In: Kronenberg HM, Melmed S, Polonsky KS, Larsen PR, eds. Williams Textbook of Endocrinology. 11th ed. Philadelphia, Pa: Saunders Elsevier; 2008:chap 22.