Aphallia is a congenital malformation in which the phallus (

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) 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 bin ...

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 require ...

amounts or action, but rather to a failure of the fetal

genital tubercle A genital tubercle or phallic tubercle is a body of tissue present in the development of the reproductive system. It forms in the ventral, caudal region of mammalian embryos of both sexes, and eventually develops into a primordial phallus. In t ...

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), includi ...

Diagnosis

Treatment

Congenital anomalies like

cryptorchidism Cryptorchidism, also known as undescended testis, is the failure of one or both testes to descend into the scrotum. The word is from Greek () 'hidden' and () 'testicle'. It is the most common birth defect of the male genital tract. About 3% of ...

, 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 Genetics is the study of genes, genetic variation, and heredity in organisms.Hartl D, Jones E (2005) It is an important branch in biology because heredity is vital to organisms' evolution. Gregor Mendel, a Moravian Augustinian friar working i ...

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 Phalloplasty is the construction or reconstruction of a penis or the artificial modification of the penis by surgery. The term is also occasionally used to refer to penis enlargement. History Russian surgeon Nikolaj Bogoraz performed the fir ...

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.

References

External links