Congenital anomalies of the genitalia
Encyclopedia
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.
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.
Causes
Some result from excessive or deficient androgenAndrogen
Androgen, also called androgenic hormone or testoid, is the generic term for any natural or synthetic compound, usually a steroid hormone, that stimulates or controls the development and maintenance of male characteristics in vertebrates by binding to androgen receptors...
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
Syndrome
In medicine and psychology, a syndrome is the association of several clinically recognizable features, signs , symptoms , phenomena or characteristics that often occur together, so that the presence of one or more features alerts the physician to the possible presence of the others...
). 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
- Ambiguous Genitalia - a large clitoris or small penis.
- CryptorchidismCryptorchidismCryptorchidism is the absence of one or both testes from the scrotum. It is the most common birth defect regarding male genitalia. In unique cases, cryptorchidism can develop later in life, often as late as young adulthood. About 3% of full-term and 30% of premature infant boys are born with at...
- absence of one or both testes from the scrotum. This includes undescended testes. - HypospadiasHypospadiasHypospadias is a birth defect of the urethra in the male that involves an abnormally placed urinary meatus...
- an abnormally placed urinary meatus (opening). - ChordeeChordeeChordee is a condition in which the head of the penis curves downward or upward, at the junction of the head and shaft of the penis. The curvature is usually most obvious during erection, but resistance to straightening is often apparent in the flaccid state as well. In many cases but not all,...
- 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. - MicropenisMicropenisMicropenis is an unusually small penis. A common criterion is a dorsal erect penile length of at least 2.5 standard deviations smaller than the mean human penis size. The condition is usually recognized shortly after birth...
- an unusually small penis. Sometimes defined as being 2.5 times the standard deviation smaller than the mean size. - ClitoromegalyClitoromegalyClitoromegaly is an abnormal enlargement of the clitoris ....
- an abnormal enlargement of the clitoris (not to be confused with the normal enlargement of the clitoris seen during sexual arousalSexual arousalSexual arousal, or sexual excitement, is the arousal of sexual desire, during or in anticipation of sexual activity. Things that precipitate human sexual arousal are called erotic stimuli, or colloquially known as turn-ons. There are many potential stimuli, both physical or mental, which can cause...
). - AphalliaAphalliaAphallia is a congenital malformity in which the phallus is absent. The word is derived from the Greek "a" for negative or no, and "phallia" for penis.-Incidence/prevalence:...
- 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.
- DiphalliaDiphalliaDiphallia, penile duplication , diphallic terata, or diphallasparatus, is a medical condition in which a male infant is born with two penises. This is an extremely rare disorder with only approximately 100 cases of diphallia recorded since the first, reported by Johannes Jacob Wecker in 1609...
, penile duplication (PD), Diphallic Terata, or Diphallasparatus, is a medical condition in which a male infant is born with two penises. - Cloacal exstrophyCloacal exstrophyCloacal exstrophy is a severe birth defect wherein much of the abdominal organs are exposed. It often causes the splitting of both male and female genitalia , and the anus is occasionally sealed.Cloacal exstrophy is an extremely rare birth defect, present in only one in 200,000 pregnancies - one...
- a severe birth defect wherein much of the abdominal organs (the bladder and intestines) are exposed. - Bladder exstrophyBladder exstrophyBladder exstrophy is a congenital anomality in which part of the urinary bladder is present outside the body. It is rare, occurring once every 10,000 to 50,000 live births with a 2:1 male:female ratio. The diagnosis involves a spectrum of anomalies of the lower abdominal wall, bladder, anterior...
, 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.
- Mullerian agenesisMullerian agenesisMüllerian agenesis is a congenital malformation in women characterised by a failure of the müllerian ducts to develop, resulting in a missing uterus and fallopian tubes and variable malformations of the upper portion of the vagina. It is the second most common cause of primary amenorrhea after...
- a condition in a female where the Müllerian ducts fail to develop and a uterus will not be present.