Congenital anomalies of the genitalia

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Congenital anomalies of the genitalia
Classification and external resources
Specialty medical genetics
ICD-10 Q50-Q56
ICD-9-CM 752
MeSH D014564

Congenital anomaly of the genitalia is a medical term referring to any physical abnormality of the male or female internal or external genitalia present at birth. This is a broad category of conditions, some common and some rare.


Some result from excessive or deficient androgen effect, others result from teratogenic effects, or are associated with anomalies of other parts of the body in a recognizable pattern (i.e., a syndrome). The cause of many of these birth defects is unknown. Some simply represent the extremes of the normal range of size for body parts.


  • Ambiguous genitalia - a large clitoris or small penis.
  • Cryptorchidism - absence of one or both testes from the scrotum. This includes undescended testes.
  • Hypospadias - an abnormally placed urinary meatus (opening).
  • Chordee - a condition in which the head of the penis curves downward (that is, in a ventral direction) or upward, at the junction of the head and shaft of the penis.
  • Micropenis - an unusually small penis. Sometimes defined as being 2.5 times the standard deviation smaller than the mean size.
  • Clitoromegaly - an abnormal enlargement of the clitoris (not to be confused with the normal enlargement of the clitoris seen during sexual arousal).
  • Aphallia - the phallus (penis or clitoris) is congenitally absent. 75 cases are known worldwide as of 2005.
  • Macrophallia - unusually large male genitals prior to puberty caused by high testosterone levels.
  • Diphallia, penile duplication (PD), Diphallic Terata, or Diphallasparatus, is a medical condition in which a male infant is born with two penises.
  • Cloacal exstrophy - a severe birth defect wherein much of the abdominal organs (the bladder and intestines) are exposed.
  • Bladder exstrophy, exstrophy-epispadias complex - a spectrum of anomalies of the lower abdominal wall, bladder, anterior bony pelvis, and external genitalia.
  • Imperforate hymen - the hymen fails to develop an opening.
  • Müllerian agenesis - a condition in a female where the Müllerian ducts fail to develop and a uterus will not be present.
  • Leydig cell hypoplasia - a condition in a male where the development of the Leydig cells of the testicles is absent or incomplete
  • Granulosa cell hypoplasia - a condition in a female where the development of the granulosa cells of the ovaries is absent or incomplete

See also[edit]