Search
anorchia (vanishing testes syndrome)
absence of both testes at birth
Epidemiology:
- male
Pathology:
- if testes fail to develop before 8 weeks in the fetus, the baby will have female genitals
- if the testes are lost between 8-10 weeks, the baby will be born with ambiguous genitalia
- if the testes are lost after the time when the male genitals differentiate (between 12-14 weeks), the baby will have normal male genitals (penis & scrotum), but no testes
Clinical manifestations:
- empty scrotum
- lack of secondary sex characteristics
Laboratory:
- serum anti-Mullerian hormone levels
- serum testosterone levels (low)
- serum FSH, serum LH
- X,Y karyotype
Radiology:
- ultrasound
- magnetic resonance imaging (MRI)
Complications:
- infertility
- psychologic problems related to gender
Management:
- surgery to look for male reproductive tissue
- artificial (prosthetic) testicle implants
- testosterone replacement
- psychological support
Related
testis
General
syndrome
References
- MedlinPlus: Anorchia
http://www.nlm.nih.gov/medlineplus/ency/article/001185.htm