Aphallia is a

congenital A birth defect is an abnormal condition that is present at childbirth, birth, regardless of its cause. Birth defects may result in disability, disabilities that may be physical disability, physical, intellectual disability, intellectual, or dev ...

malformation in which the

phallus A phallus (: phalli or phalluses) 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 symbo ...

(

penis A penis (; : penises or penes) is a sex organ through which male and hermaphrodite animals expel semen during copulation (zoology), copulation, and through which male placental mammals and marsupials also Urination, urinate. The term ''pen ...

clitoris In amniotes, the clitoris ( or ; : clitorises or clitorides) is a female sex organ. In humans, it is the vulva's most erogenous zone, erogenous area and generally the primary anatomical source of female Human sexuality, sexual pleasure. Th ...

) is absent. It is also known as penile agenesis in the case of males. The word is derived . It is classified as a

disorder of sex development Disorders of sex development (DSDs), also known as differences in sex development, variations in sex characteristics (VSC), sexual anomalies, or sexual abnormalities, are Congenital disorder, congenital conditions affecting the Human reproductive ...

Causes

Aphallia has no known cause. It is not linked to deficient

hormone A hormone (from the Ancient Greek, Greek participle , "setting in motion") is a class of cell signaling, signaling molecules in multicellular organisms that are sent to distant organs or tissues by complex biological processes to regulate physio ...

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

genital tubercle A genital tubercle, phallic tubercle, or clitorophallic structure is a body of tissue present in the development of the reproductive system of amniotes. It forms in the ventral, caudal region of mammalian embryos of both sexes, and eventually ...

to form between 3 and 6 weeks after conception. The

urethra The urethra (: urethras or urethrae) is the tube that connects the urinary bladder to the urinary meatus, through which Placentalia, placental mammals Urination, urinate and Ejaculation, ejaculate. The external urethral sphincter is a striated ...

of an affected child opens on the

perineum The perineum (: perineums or perinea) in placentalia, placental mammals is the space between the anus and the genitals. The human perineum is between the anus and scrotum in the male or between the anus and vulva in the female. The perineum is ...

Diagnosis

Aphallia is usually diagnosed at birth by observation of the genital area, which is usually ambiguous.

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 . It is the most common birth defect of the male genital tract. About 3% of full-term and 30% of premature infant boy ...

, 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 male infant as a girl, after the outdated 1950s theory that gender as a

social construct A social construct is any category or thing that is made real by convention or collective agreement. Socially constructed realities are contrasted with natural kinds, which exist independently of human behavior or beliefs. Simple examples of s ...

was purely nurture and so an individual child could be raised early on and into one gender or the other. Many advocacy groups have advocate harshly against coercive genital reassignment however, and encourage infants genitals to be left intact. The nurture theory has been largely abandoned and cases of trying to rear children this way have not proven to be successful transitions. Consensus recommends male gender assignment. Recent advances in surgical

phalloplasty Phalloplasty (also called penoplasty) 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 B ...

techniques have provided additional options for those still interested in pursuing surgery.

Incidence

Aphallia or absence of the penis is a very rare congenital anomaly with an estimated incidence of 1 in 10,000,000 births. Kumar, Amarendra; Faiz, Nameer. Aphallia: Case report and review of the literature. Saudi Surgical Journal 3(1):p 13-16, Jan–Apr 2015. , doi=10.4103/2320-3846.153801 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 the condition and the issues of keeping accurate statistics and records among doctors, it is likely there are more cases than reported.

References

External links