Aphallia is a
congenital
A birth defect, also known as a congenital disorder, is an abnormal condition that is present at birth regardless of its cause. Birth defects may result in disabilities that may be physical, intellectual, or developmental. The disabilities c ...
malformation in which the
phallus
A phallus is a penis (especially when erect), an object that resembles a penis, or a mimetic image of an erect penis. In art history a figure with an erect penis is described as ithyphallic.
Any object that symbolically—or, more precise ...
(
penis
A penis (plural ''penises'' or ''penes'' () is the primary sexual organ that male animals use to inseminate females (or hermaphrodites) during copulation. Such organs occur in many animals, both vertebrate and invertebrate, but males d ...
or
clitoris
The clitoris ( or ) is a female sex organ present in mammals, ostriches and a limited number of other animals. In humans, the visible portion – the glans – is at the front junction of the labia minora (inner lips), above the o ...
) is absent.
It is also known as penile agenesis in the case of males. The word is derived from the
Greek
Greek may refer to:
Greece
Anything of, from, or related to Greece, a country in Southern Europe:
*Greeks, an ethnic group.
*Greek language, a branch of the Indo-European language family.
**Proto-Greek language, the assumed last common ancestor ...
''a-'' for "not", and ''phallos'' for "penis". It is classified as an
intersex
Intersex people are individuals born with any of several sex characteristics including chromosome patterns, gonads, or genitals that, according to the Office of the United Nations High Commissioner for Human Rights, "do not fit typical b ...
variation.
Causes
Aphallia has no known cause. It is not linked to deficient
hormone
A hormone (from the Greek participle , "setting in motion") is a class of signaling molecules in multicellular organisms that are sent to distant organs by complex biological processes to regulate physiology and behavior. Hormones are required ...
amounts or action, but rather to a failure of the fetal
genital tubercle to form between 3 and 6 weeks after conception. The
urethra
The urethra (from Greek οὐρήθρα – ''ourḗthrā'') is a tube that connects the urinary bladder to the urinary meatus for the removal of urine from the body of both females and males. In human females and other primates, the urethra c ...
of an affected child opens on the
perineum
The perineum in humans is the space between the anus and scrotum in the male, or between the anus and the vulva in the female. The perineum is the region of the body between the pubic symphysis (pubic arch) and the coccyx (tail bone), inclu ...
.
Diagnosis
Treatment
Congenital anomalies like
cryptorchidism, renal agenesis/dysplasia, musculoskeletal and cardiopulmonary anomalies are also common (>50% cases), hence evaluation of the patient for internal anomalies is mandatory.
Although aphallia can occur in any body type, it is considered a substantially more troublesome problem with those who have testes present, and has in the past sometimes been considered justification for
assigning and
rearing a
genetically male infant as a girl, after the outdated 1950s theory that gender as a
social construct
Social constructionism is a theory in sociology, social ontology, and communication theory which proposes that certain ideas about physical reality arise from collaborative consensus, instead of pure observation of said reality. The theory ...
was purely nurture and so an individual child could be raised early on and into one gender or the other, regardless of their genetics or brain chemistry. Intersex people generally advocate harshly against coercive genital reassignment however, and encourage infants to be raised choosing their own gender identity. The nurture theory has been largely abandoned and cases of trying to rear children this way have not proven to be successful transitions.
Nowadays consensus recommends male gender assignment.
Recent advances in surgical
phalloplasty techniques have provided additional options for those still interested in pursuing surgery.
Incidence
It is a rare condition, with only approximately 60 cases reported as of 1989,
and 75 cases as of 2005.
However, due to the stigma of intersex conditions and the issues of keeping accurate statistics and records among doctors, it is likely there are more cases than reported.
See also
*
Perineal urethra, where the urethra fails to develop normally
*
Anorchia
Anorchia (also called anorchidism or anorchism) is a disorder of sex development in which a person with XY karyotype, which corresponds to male sex, is born without testes. Within a few weeks of fertilization, the embryo develops rudimentary gon ...
, where the testicles fail to develop
References
External links
{{Male congenital malformations of genital organs, indeterminate sex and pseudohermaphroditism
Congenital disorders of genital organs
Rare diseases
Intersex variations