Pseudovaginal perineoscrotal hypospadias
Encyclopedia
Pseudovaginal perineoscrotal hypospadias (PPSH) refers to a configuration of the external genitalia of an infant. In a sense, this configuration is roughly midway between normal male genitalia and normal female genitalia in structure and appearance. It is a relatively common form of genital ambiguity caused by undervirilization
of genetic males due to several different intersex
conditions.
Testes are often palpable in the scrotum
or inguinal canal
s, and the karyotype
is XY. In most cases there are no internal female structures such as a uterus
or other mullerian duct
derivatives.
, since genitalia with this degree of ambiguity do not resemble either sex very well with respect to looks or function. Many infants with PPHS have been assigned and raised as female despite presence of testes and XY chromosomes.
Nearly all infants with PPSH are offered surgical reconstruction
, to either further masculinize or feminize the external genitalia.
Treatment with testosterone postnatally does not close the urethra
or change the malformation, but in some cases may enlarge the penis slightly.
Virilization
In biology and medicine, virilization refers to the biological development of sex differences, changes that make a male body different from a female body. Most of the changes of virilization are produced by androgens...
of genetic males due to several different intersex
Intersex
Intersex, in humans and other animals, is the presence of intermediate or atypical combinations of physical features that usually distinguish female from male...
conditions.
Presentation
PPSH usually consists of:- a phallusPhallusA phallus is an erect penis, a penis-shaped object such as a dildo, or a mimetic image of an erect penis. Any object that symbolically resembles a penis may also be referred to as a phallus; however, such objects are more often referred to as being phallic...
midway in size between penisPenisThe penis is a biological feature of male animals including both vertebrates and invertebrates...
and clitorisClitorisThe clitoris is a sexual organ that is present only in female mammals. In humans, the visible button-like portion is located near the anterior junction of the labia minora, above the opening of the urethra and vagina. Unlike the penis, which is homologous to the clitoris, the clitoris does not...
, - a 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,...
tethering it to the perineumPerineumIn human anatomy, the perineum is a region of the body including the perineal body and surrounding structures...
, - a urethraUrethraIn anatomy, the urethra is a tube that connects the urinary bladder to the genitals for the removal of fluids out of the body. In males, the urethra travels through the penis, and carries semen as well as urine...
l opening usually on the perineum (the hypospadiasHypospadiasHypospadias is a birth defect of the urethra in the male that involves an abnormally placed urinary meatus...
), - and an incompletely closed urogenital opening, which resembles a small and shallow vaginaVaginaThe vagina is a fibromuscular tubular tract leading from the uterus to the exterior of the body in female placental mammals and marsupials, or to the cloaca in female birds, monotremes, and some reptiles. Female insects and other invertebrates also have a vagina, which is the terminal part of the...
.
Testes are often palpable in the scrotum
Scrotum
In some male mammals the scrotum is a dual-chambered protuberance of skin and muscle containing the testicles and divided by a septum. It is an extension of the perineum, and is located between the penis and anus. In humans and some other mammals, the base of the scrotum becomes covered with curly...
or inguinal canal
Inguinal canal
The inguinal canal is a passage in the anterior abdominal wall which in men conveys the spermatic cord and in women the round ligament. The inguinal canal is larger and more prominent in men.-Site:...
s, and the karyotype
Karyotype
A karyotype is the number and appearance of chromosomes in the nucleus of an eukaryotic cell. The term is also used for the complete set of chromosomes in a species, or an individual organism.p28...
is XY. In most cases there are no internal female structures such as a uterus
Uterus
The uterus or womb is a major female hormone-responsive reproductive sex organ of most mammals including humans. One end, the cervix, opens into the vagina, while the other is connected to one or both fallopian tubes, depending on the species...
or other mullerian duct
Müllerian duct
Müllerian ducts are paired ducts of the embryo that run down the lateral sides of the urogenital ridge and terminate at the Müllerian eminence in the primitive urogenital sinus. In the female, they will develop to form the Fallopian tubes, uterus, cervix, and the upper two-third of the vagina; in...
derivatives.
Management
When an infant is born with PSH, the most difficult management decision has often been the sex assignmentSex assignment
Sex assignment refers to the assigning of the biological sex at the birth of a baby. In the majority of births, a relative, midwife, or physician inspects the genitalia when the baby is delivered, sees ordinary male or female genitalia, and declares, "it's a girl" or "it's a boy" without the...
, since genitalia with this degree of ambiguity do not resemble either sex very well with respect to looks or function. Many infants with PPHS have been assigned and raised as female despite presence of testes and XY chromosomes.
Nearly all infants with PPSH are offered surgical reconstruction
Intersex surgery
Intersex surgery is one of several terms referring to surgery performed to correct birth defects or early injuries of the genitalia, primarily for the purposes of making the appearance more normal and to reduce the likelihood of future problems...
, to either further masculinize or feminize the external genitalia.
Treatment with testosterone postnatally does not close the urethra
Urethra
In anatomy, the urethra is a tube that connects the urinary bladder to the genitals for the removal of fluids out of the body. In males, the urethra travels through the penis, and carries semen as well as urine...
or change the malformation, but in some cases may enlarge the penis slightly.
See also
- intersexIntersexIntersex, in humans and other animals, is the presence of intermediate or atypical combinations of physical features that usually distinguish female from male...
- ambiguous genitalia
- intersex surgeryIntersex surgeryIntersex surgery is one of several terms referring to surgery performed to correct birth defects or early injuries of the genitalia, primarily for the purposes of making the appearance more normal and to reduce the likelihood of future problems...
- androgen insensitivity syndromeAndrogen insensitivity syndromeAndrogen insensitivity syndrome is a condition that results in the partial or complete inability of the cell to respond to androgens. The unresponsiveness of the cell to the presence of androgenic hormones can impair or prevent the masculinization of male genitalia in the developing fetus, as...