anorchia (vanishing testes syndrome)

Introduction

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

More general terms

• syndrome

Additional terms

• testis