Congenital anomalies of the genitalia

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Congenital anomalies of the genitalia
Classification and external resources
ICD-10 Q50-Q56
ICD-9 752
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.

Causes[edit]

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.

Examples[edit]

  • 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]

References[edit]


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