Cloacal exstrophy | |
---|---|
Other names | Omphalocele-cloacal exstrophy-imperforate anus-spinal defect syndrome |
Specialty | Medical genetics |
Complications | Limb deformities, open neural tube defects [1] |
Treatment | Surgical intervention |
Cloacal exstrophy (CE) is a severe birth defect wherein much of the abdominal organs (the bladder and intestines) are exposed. It often causes the splitting of the bladder, genitalia, and the anus. It is sometimes called OEIS complex. [2]
Diagnostic tests can include ultrasound, voiding cystourethrogram (VCUG), intravenous pyelogram (IVP), nuclear renogram, computerized axial tomography (CT scan), and magnetic resonance imaging (MRI). [3] Cloacal exstrophy is a rare birth defect, present in 1/200,000 pregnancies and 1/400,000 live births. It is associated with a defect of the ventral body wall and can be caused by inhibited mesodermal migration. [4] The defect can often be comorbid with spinal bifida and kidney abnormalities. [5] Many individuals who are born with XY cloacal exstrophy are assigned female at birth due to the appearance of the external genitalia. [6] [7] Performing genital surgery on intersex infants for cosmetic purposes is considered a human rights violation by the World Health Organization. [8] [9]
Between 1960 and 2000, [10] doctors believed XY males with cloacal exstrophy would be happier socially as females, and surgically reassigned them. This occurred under the belief that humans were born psychosexually neutral. The practice proved controversial, after follow-ups by William Reiner found that many struggled to adhere to a female gender identity, had masculine interests, were attracted to females, or reverted to the male sex spontaneously or upon learning they were genetic males. [11]
According to J. Michael Bailey: [11]
Reiner thinks that all the cloacal cases born as boys would be happier as boys rather than girls, because their brains have been biologically prepared for the male role. He thinks that those who remain girls are at best missing out, and at worst are experiencing great inner torment. He thinks their parents should tell them and, essentially, let them choose their sex.
In terms of their sexual orientations, a 2016 academic review by J. Michael Bailey found 7 published cases of genetic males who were reassigned as females at birth and raised as girls, 5 of whom were cloacal exstrophy cases. All were strongly attracted to females. [10] According to a 2015 article in The Boston Globe , Wiliam Reiner has followed up on the sexual orientations of approximately 70 genetic males who were raised as females. Only one reported having sexual attractions to males, "I’m more convinced than ever that sexual orientation is built in... certainly for males" he said. [12] A 2023 review by Swift-Gallant et al. cited an additional two cases from media reports, both of whom were gynephilic (attracted to women). [13]
Reiner's results have caused some doctors to reconsider the practice of sex reassigning genetic males. [11] A 2011 study found that 79% of paediatric urologists surveyed favoured male assignment for genetic males with cloacal exstrophy. [14]
The relationship between biology and sexual orientation is a subject of on-going research. While scientists do not know the exact cause of sexual orientation, they theorize that it is caused by a complex interplay of genetic, hormonal, and environmental influences. However, evidence is weak for hypotheses that the post-natal social environment impacts sexual orientation, especially for males.
Gender identity is the personal sense of one's own gender. Gender identity can correlate with a person's assigned sex or can differ from it. In most individuals, the various biological determinants of sex are congruent and consistent with the individual's gender identity. Gender expression typically reflects a person's gender identity, but this is not always the case. While a person may express behaviors, attitudes, and appearances consistent with a particular gender role, such expression may not necessarily reflect their gender identity. The term gender identity was coined by psychiatry professor Robert J. Stoller in 1964 and popularized by psychologist John Money.
Hypospadias is a common malformation in fetal development of the penis in which the urethra does not open from its usual location on the head of the penis. It is the second-most common birth defect of the male reproductive system, affecting about one of every 250 males at birth, although when including milder cases, is found in up to 4% of newborn males. Roughly 90% of cases are the less serious distal hypospadias, in which the urethral opening is on or near the head of the penis (glans). The remainder have proximal hypospadias, in which the meatus is all the way back on the shaft of the penis, near or within the scrotum. Shiny tissue or anything that typically forms the urethra instead extends from the meatus to the tip of the glans; this tissue is called the urethral plate.
Epispadias is a birth defect in which the urethra fails to fully develop, resulting in urine leaving the body from an abnormal site. In males, this may be an opening on the upper aspect of the penis, and in females when the urethra develops too far anteriorly. It occurs in around 1 in 120,000 male and 1 in 500,000 female births.
An omphalocele or omphalocoele, also known as an exomphalos, is a rare abdominal wall defect. Beginning at the 6th week of development, rapid elongation of the gut and increased liver size reduces intra abdominal space, which pushes intestinal loops out of the abdominal cavity. Around 10th week, the intestine returns to the abdominal cavity and the process is completed by the 12th week. Persistence of intestine or the presence of other abdominal viscera in the umbilical cord results in an omphalocele.
Pediatric urology is a surgical subspecialty of medicine dealing with the disorders of children's genitourinary systems. Pediatric urologists provide care for both boys and girls ranging from birth to early adult age. The most common problems are those involving disorders of urination, reproductive organs and testes.
Intersex medical interventions (IMI), sometimes known as intersex genital mutilations (IGM), are surgical, hormonal and other medical interventions performed to modify atypical or ambiguous genitalia and other sex characteristics, primarily for the purposes of making a person's appearance more typical and to reduce the likelihood of future problems. The history of intersex surgery has been characterized by controversy due to reports that surgery can compromise sexual function and sensation, and create lifelong health issues. The medical interventions can be for a variety of reasons, due to the enormous variety of the disorders of sex development. Some disorders, such as salt-wasting disorder, can be life-threatening if left untreated.
The history of intersex surgery is intertwined with the development of the specialities of pediatric surgery, pediatric urology, and pediatric endocrinology, with our increasingly refined understanding of sexual differentiation, with the development of political advocacy groups united by a human qualified analysis, and in the last decade by doubts as to efficacy, and controversy over when and even whether some procedures should be performed.
Bladder exstrophy is a congenital anomaly that exists along the spectrum of the exstrophy-epispadias complex, and most notably involves protrusion of the urinary bladder through a defect in the abdominal wall. Its presentation is variable, often including abnormalities of the bony pelvis, pelvic floor, and genitalia. The underlying embryologic mechanism leading to bladder exstrophy is unknown, though it is thought to be in part due to failed reinforcement of the cloacal membrane by underlying mesoderm. Exstrophy means the inversion of a hollow organ.
An imperforate anus or anorectal malformations (ARMs) are birth defects in which the rectum is malformed. ARMs are a spectrum of different congenital anomalies which vary from fairly minor lesions to complex anomalies. The cause of ARMs is unknown; the genetic basis of these anomalies is very complex because of their anatomical variability. In 8% of patients, genetic factors are clearly associated with ARMs. Anorectal malformation in Currarino syndrome represents the only association for which the gene HLXB9 has been identified.
Ovotesticular syndrome is a rare congenital condition where an individual is born with both ovarian and testicular tissue. It is one of the rarest DSDs, with only 500 reported cases. Commonly, one or both gonads is an ovotestis containing both types of tissue. Although it is similar in some ways to mixed gonadal dysgenesis, the conditions can be distinguished histologically.
Disorders of sex development (DSDs), also known as differences in sex development or variations in sex characteristics (VSC), are congenital conditions affecting the reproductive system, in which development of chromosomal, gonadal, or anatomical sex is atypical. DSDs is a clinical term used in some medical settings for what are otherwise referred to as intersex traits. The term was first introduced in 2006 and has not been without controversy.
The relationship between the environment and sexual orientation is a subject of research. In the study of sexual orientation, some researchers distinguish environmental influences from hormonal influences, while other researchers include biological influences such as prenatal hormones as part of environmental influences.
Sexual orientation is an enduring pattern of romantic or sexual attraction to persons of the opposite sex or gender, the same sex or gender, or to both sexes or more than one gender, or none of the aforementioned at all. The ultimate causes and mechanisms of sexual orientation development in humans remain unclear and many theories are speculative and controversial. However, advances in neuroscience explain and illustrate characteristics linked to sexual orientation. Studies have explored structural neural-correlates, functional and/or cognitive relationships, and developmental theories relating to sexual orientation in humans.
Diphallia, penile duplication (PD), diphallic terata, or diphallasparatus is an extremely rare developmental abnormality in which a male is born with two penises. The first reported case was by Johannes Jacob Wecker in 1609. Its occurrence is 1 in 5.5 million boys in the United States.
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 binary notions of male or female bodies".
Vaginal anomalies are abnormal structures that are formed during the prenatal development of the female reproductive system and are rare congenital defects that result in an abnormal or absent vagina.
Sexual anomalies, also known as sexual abnormalities, are a set of clinical conditions due to chromosomal, gonadal and/or genitalia variation. Individuals with congenital (inborn) discrepancy between sex chromosome, gonadal, and their internal and external genitalia are categorised as individuals with a disorder of sex development (DSD). Afterwards, if the family or individual wishes, they can partake in different management and treatment options for their conditions. Many intersex people are engaged in activism to stop such treatments, citing the extreme and harmful nature of many of the treatments, further arguing that many of the treatments serve no medical purpose.
Various criteria have been offered for the definition of intersex, including ambiguous genitalia, atypical genitalia, and differential sexual development. Ambiguous genitalia occurs in roughly 0.05% of all births, usually caused by masculinization or feminization during pregnancy, these conditions range from full androgen insensitivity syndrome to ovotesticular syndrome.
William G. Reiner is a urologist, psychiatrist and professor who worked and taught at Johns Hopkins Hospital and University of Oklahoma. He researched individuals with intersex conditions, cloacal exstrophy and bladder exstrophy.
There is a high association with other birth defects, especially spina bifida, which occurs in up to 75% of cases. Omphalocele, a defect of the abdominal wall in the region of the umbilicus, is also common, as are kidney abnormalities.
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