Management and prognosis of congenital abnomalies

Types of Congenital Anomalies

Congenital Malformations of the Vulva

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Causes
Some result from excessive or deficient androgen effect, others result from teratogenic effects, or are
associated with anomalies of other parts of the body in a recognizable pattern (i.e., a syndrome). The
cause of many of these birth defects is unknown. Some simply represent the extremes of the normal range
of size for body parts

Disorders of sex development

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Disorders of sex development

Classification and external resources

MeSH D012734

[edit on Wikidata]

Disorders of sex development (DSD), sometimes referred to as disorders of sex

differentiation or differences of sex development,[1] are medical conditions involving the
reproductive system. More specifically, these terms refer to "congenital conditions in which
development of chromosomal, gonadal, or anatomical sex is atypical."[2]

The term has been controversial, and research has shown that affected people experience a
negative impact, with the terminology impacting choice and utilization of health care
providers.[3] The World Health Organization and many medical journals still reference DSDs as
intersex traits or conditions.[4] The Council of Europe,[5] and Inter-American Commission on
Human Rights[6] have called for a review of medical classifications that unnecessarily medicalize
intersex traits.[5][6][7]
Contents

1 Overview
2 Conditions
3 Controversy
4 See also
5 References
6 External links

Overview

DSDs are medical conditions involving the way the reproductive system develops from infancy
(and before birth) through young adulthood. There are several types of DSDs and their effect on
the external and internal reproductive organs varies greatly.

A frequently-used social and medical adjective for people with DSDs is "intersex".[8] Parents
with DSD children and clinicians involved in DSD treatment usually try to make clear
distinctions between biological sex, social gender, and sexual orientation. This helps reduce
confusion about the differences between being intersex, being transgender, and being
gay/lesbian.

The most common DSD is congenital adrenal hyperplasia (CAH), which results in a person with
female (XX) chromosomes having genitals that look somewhat masculine. In mild cases CAH
results in a slightly enlarged clitoris, while in more severe cases it can be difficult to decide (just
by looking) whether a baby is male or female (this is called having ambiguous genitals).
Nevertheless, if they are old enough to know the difference, most children with CAH think of
themselves as girls. CAH is caused by a problem with the adrenal glands and is usually treated
by taking a daily medication to replace or supplement the missing adrenal hormones. (When this
adrenal problem occurs in people with male (XY) chromosomes, the result is over-
masculinization and premature puberty).

Another common DSD is androgen insensitivity syndrome (AIS), which means that a person
with male (XY) chromosomes does not respond to testosterone in the usual way. This results in a
body that to some degree has a feminine appearance. In Complete Androgen Insensitivity
Syndrome (CAIS) the result is a totally feminine appearance, including typical female breast
development. Consequently, most young women with CAIS are unaware of their condition until
the early teen years when they fail to menstruate. In the milder form, called Partial Androgen
Insensitivity Syndrome (PAIS), the genitals can vary from mostly female to almost completely
male. Some people with PAIS think of themselves as girls/women, others regard themselves as
boys/men, and some consider themselves mixed-gender.

One of the more unusual DSDs is 5-alpha-reductase deficiency (5ARD). It is caused by a

shortage early in life of an enzyme that activates testosterone. In this condition, a person with
male (XY) chromosomes has a body that appears female before puberty. After puberty begins,
other testosterone-activating enzymes become available and the body soon takes on a masculine
appearance, with the scrotum and penis usually reaching typical or nearly-typical size. If 5ARD
is diagnosed at a young age, the child is often raised as a boy (a 1996 Brazilian study suggested
that the majority of adults with this condition consider themselves men[9] but this has been
questioned in some more recent research).

In addition to CAH, CAIS, PAIS, and 5ARD there are several rarer types of DSDs, and in some
cases it is not possible to make a clear diagnosis of the underlying condition.

The Quigley scale is a method for describing genital development in AIS.

The penis and clitoris are essentially the same organ (differing only in size, and generically
called the phallus). In typical males, the urethra is located at the tip of the penis, while in typical
females the urethra is located below the base of the clitoris. When the phallus is of intermediate
size, it is possible also to have a urethral opening located along the shaft; this condition is known
as hypospadias.

Open-minded parenting, appropriate and conservative medical intervention, and age-appropriate

child involvement in the treatment plan contribute greatly to successful outcomes for the entire
range of DSDs.[10]

Conditions

47,XXY females - There are case reports of 47,XXY females; in some cases SRY or androgen
receptor abnormalities are detected.[11]
48, XXXX (also known as tetrasomy X, quadruple X, and XXXX syndrome) - A condition
that describes a female with two extra female chromosomes. It is considered a variation of Triple
X syndrome. Women with 48, XXXX may or may not have issues associated with the condition
though most are developmentally delayed and only about 50% undergo puberty normally.
48, XXYY (also known as XXYY syndrome) - A condition that describes a male with one extra
female chromosome and one extra male chromosome. It occurs in 1 in 18,000 to 40,000 male
births.[12] 48, XXYY may result in infertility, low testosterone, and neurodevelopmental disorders
like ADHD or autism but some men have no issues.
49, XXXXX (also known as pentasomy X and XXXXX syndrome) - A condition that describes
a female with three extra female chromosomes. It is considered a variant of Triple X syndrome.
Women with 49, XXXXX usually suffer from numerous health issues such as patent ductus
arteriosus, scoliosis, kidney hypoplasia, and abnormal lobulation of the lungs. Physical
deformities include microcephaly, micrognathia, and webbing of the neck.
49, XXXXY - A condition that describes a male with three extra female chromosomes. It is rare,
occurring in 1 in 85,000 to 100,000 males.[13][14] It is considered a variation of Klinefelter
syndrome. Men with 49, XXXXY syndrome often suffer from mental retardation.
5-reductase deficiency (also known as 5-ARD) - An autosomal recessive condition caused by a
mutation of the 5-alpha reductase type 2 gene. It only affects people with Y chromosomes,
namely genetic males. People with this condition are fertile, with the ability to father children, but
may be raised as females due to amibiguous or feminized genitalia.
 17-Hydroxysteroid dehydrogenase deficiency - A condition characterized by impaired
androgen and estrogen synthesis in males and females, respectively. Results in
pseudohermaphroditism/undervirilization in males and in excessive virilization of adult females.
Androgen insensitivity syndrome (also known as AIS) - A condition which affects a genetic
male's virilization. A person with androgen insensitivity syndrome produces androgens and
testosterone but their body does not recognize it, either partially or completely. Mild androgen
insensitivity syndrome generally causes no developmental issues and people with this form are
raised as males. Partial androgen insensitivity syndrome results in ambiguous genitalia and there
is no consensus regarding whether to raise a child with this form as male or female. Complete
androgen insensitivity syndrome causes a genetic male to have a vagina (often incompletely
developed, nearly always blind-ending), breasts, and a clitoris and people with this form are
raised as females.
Aphallia - A rare occurrence where a male is born without a penis or where a female is born
without a clitoris. As of 2005, only 75 cases of aphallia have been documented.[15] It should not
be confused with intentional or accidental amputation of the genitalia.
Aposthia - A congenital defect where a male is born without a foreskin.
Aromatase deficiency - A disorder in which, in females, is characterized by androgen excess and
estrogen deficiency, and can result in inappropriate virilization, though without
pseudohermaphroditism (i.e., genitals are phenotypically appropriate) (with the exception of the
possible incidence of clitoromegaly).
Aromatase excess syndrome (also known as familial hyperestrogenism) - A condition that
causes excessive estrogen production, resulting in feminization without pseudohermaphroditism
(i.e., male genitalia at birth and female secondary sexual characteristics at puberty) in males and
hyperfeminization in females.
Clitoromegaly - A clitoris that is considered larger than average. While clitoromegaly may be a
symptom of an intersex condition, it may also be considered a normal variation in clitoris size.
Clitoromegaly causes no health issues. Surgical reduction of the clitoris or its complete removal
may be performed to normalize the appearance of the genitalia. While female genital mutilation is
outlawed in many countries, reduction or the removal of the clitoris in cases of clitoromegaly are
generally exempt, despite the fact that it is a nontherapeutic and sexually damaging surgery.
Clitoromegaly may also be caused by females using testosterone or anabolic steroids for purposes
related to female to male gender transition or bodybuilding.
Combined 17-hydroxylase/17,20-lyase deficiency - A condition in which presents as a
combination of the symptoms of congenital adrenal hyperplasia and isolated 17,20-lyase
deficiency. See those two conditions for more information.
Complete androgen insensitivity syndrome (also known as CAIS) - A condition which
completely affects a genetic male's ability to recognize androgens. It is considered a form of
androgen insensitivity syndrome and is the most severe form. People with complete androgen
insensitivity are raised as females and usually do not discover they are genetic males until they
experience amenorrhoea in their late teens or they need medical intervention due to a hernia
caused by their undescended testes. Complete androgen insensitivity syndrome results in a
genetic male having a vagina, clitoris, and breasts which are capable of breastfeeding. However,
they will not have ovaries or a uterus. Because they do not have ovaries or sufficiently developed
testicles, people with complete androgen insensitivity syndrome are infertile.
Congenital adrenal hyperplasia (also known as CAH) - A condition that causes excessive
androgen production, which causes excessive virilization. It is most problematic in genetic
females, where severe virilization can result in her having vaginal agenesis (absence of vagina)
and a functional penis which is capable of penetrative intercourse. Females with this condition are
usually fertile, with the ability to become pregnant and give birth. The salt-wasting variety of this
condition is fatal in infants if left untreated.
 Diphallia (also known as penile duplication, diphallic terata, and diphallasparatus) - A
condition where a male is born with two penises. It's extremely rare, with only 100 cases being
recorded since 1609 and an occurrence rate of 1 in 5,500,000 in the United States. The penises
may be side by side or one on top of the other, being of equal size or with one penis being
distinctively larger than the other, and both penises may be suitable for urination and intercourse.
Men with diphallia may be sterile.
Estrogen insensitivity syndrome (EIS) - The estrogen counterpart to androgen insensitivity
syndrome. Extremely rare, with only one verified case having been reported; a biological male
presented with tall stature, a heightened risk of osteoporosis, and sterility.
Gonadal Dysgenesis - is any congenital developmental disorder of the reproductive system
characterized by a progressive loss of primordial germ cells on the developing gonads of an
embryo.
Isolated 17,20-lyase deficiency - A condition that is characterized by an either partial or
complete inability to produce androgens and estrogens. Results in partial or complete
feminization and undervirilization in males and in a delayed, reduced, or absent puberty in both
sexes, in turn causing sexual infantilism and infertility, among other symptoms.
Klinefelter syndrome (also known as 47, XXY and XXY syndrome) - A condition that
describes a male born with at least one extra female chromosome. Though the most common
variation is 47, XXY, a man may also be 48, XXXY or 49, XXXXY. It is a common occurrence,
affecting 1 in 500 to 1,000 men.[16] While some men may have no issues related to the syndrome,
some may experience gynecomastia, micropenis, cognitive difficulties, hypogonadism, reduced
fertility/infertility, and/or little or no facial hair. Testosterone therapy may be pursued by men
who desire a more masculine appearance and those with gynecomastia may opt to undergo a
reduction mammoplasty. Men who wish to father children may be able to do so with the help of
IVF.[17]
Leydig cell hypoplasia - A condition solely affecting biological males which is characterized by
a partial or complete inactivation of the luteinizing hormone receptor, resulting in stymied
androgen production. Patients may present at birth with a fully female phenotype, ambiguous
genitalia, or only mild genital defects such as micropenis and hypospadias. Upon puberty, sexual
development is either impaired or fully absent.
Micropenis (also known as microphallus) - A penis that measures 3 inches (7.62 centimeters) or
less in length when erect. It is a common condition, occurring in 1 in 200 men.[18] Micropenis
may be the result of undervirilization during fetal development or may be caused by an
underlying intersex condition, such as mild androgen insensitivity syndrome, partial androgen
insensitivity syndrome, or Klinefelter syndrome. It may also be considered a natural variation of
penis size. While the majority of men have no issues with having a micropenis, some may opt to
use a prosthetic penis or undergo penile enlargement to increase the size of their penis.
Lipoid congenital adrenal hyperplasia - An endocrine disorder that arises from defects in the
earliest stages of steroid hormone synthesis: the transport of cholesterol into the mitochondria and
the conversion of cholesterol to pregnenolonethe first step in the synthesis of all steroid
hormones.
Mild androgen insensitivity syndrome (also known as MAIS) - A condition which mildly
affects a genetic male's ability to recognize androgens. It is considered a form of androgen
insensitivity syndrome and is considered the least severe form. While men generally do not need
any specialized medical care related to this form, mild androgen insensitivity syndrome may
result in gynecomastia and hypospadias. Neither gynecomastia nor hypospadias require surgerical
intervention or adversely affect a man's health though some men may opt to undergo surgery to
remove their breasts and/or repair their hypospadias. Men with mild androgen insensitivity
syndrome may have reduced fertility.
 Mixed gonadal dysgenesis - is a condition of unusual and asymmetrical gonadal development
leading to an unassigned sex differentiation. A number of differences have been reported in the
karyotype, most commonly a mosaicism 45,X/ 46, XY.
Partial androgen insensitivity syndrome (also known as PAIS) - A condition which partially
affects a genetic male's ability to recognize androgens. It is considered a form of androgen
insensitivity syndrome and while it is not as severe as complete androgen insensitivity syndrome,
it is more severe than mild androgen insensitivity syndrome. Partial androgen insensitivity
syndrome causes major problems with gender assignment because it causes ambiguous genitalia
such as a micropenis or clitoromegaly in addition to breast development. People with partial
androgen insensitivity syndrome who are assigned as males may undergo testosterone therapy to
virilize their body while those who are assigned as females may undergo surgical reduction of the
clitoris and/ or estrogen therapy.
Pseudovaginal perineoscrotal hypospadias (also known as PPSH) - A form of ambiguous
genitalia which results in a phallic structure that is smaller than a penis but larger than a clitoris, a
chordee, hypospadias, and a shallow vagina.
Swyer Syndrome (Also known as Pure Gonadal Dysgenesis or XY gonadal dysgenesis) is a
type of hypogonadism in a person whose karyotype is 46,XY. The person is externally female
with streak gonads, and left untreated, will not experience puberty. Such gonads are typically
surgically removed (as they have a significant risk of developing tumors) and a typical medical
treatment would include hormone replacement therapy with female hormones.
Triple X syndrome - A condition that describes a female born with an extra female chromosome,
making her karotype 47, XXX. It is a common occurrence, affecting 1 in 1,000 females.[19] It
generally causes no health issues or abnormal development.
Turner syndrome (also known as Ullrich-Turner syndrome and gonadal dysgenesis) - A
condition that describes a female born without a female chromosome or with an abnormal female
chromosome, making her karotype 45, XO. It occurs in 1 in 2,000 to 5,000 females. Turner
syndrome causes numerous health and development problems, including but not limited to short
stature, lymphedema, infertility, webbed neck, coarctation of the aorta, ADHD, amenorrhoea, and
obesity.
Uterus didelphys (also known as double uterus) - A condition where a female is born with two
uteri. It is often accompanied by two vaginas. It is generally not considered a health issue and
women with uterus didelphys usually have normal sex lives and pregnancies.[20]
Mllerian agenesis (also known as MRKH or Vaginal Agenesis) - A condition that causes the
uterus and other reproductive organs in a 46,XX female to be small or absent, as well as the
vaginal canal itself. It affects 1 out of 4,500 to 5,000 females and can also come with skeletal or
endocrine system issues at conception.

Controversy
Further information: Intersex human rights and Intersex medical interventions

The term DSD (and particularly its association with medical disorders) has been controversial.
The argument over terminology reflects a deeper disagreement over the extent to which intersex
conditions require medical intervention, the appropriateness of certain interventions, and whether
physicians and parents should make irreversible treatment decisions on behalf of young children
if the condition is not life-threatening.

Use of the term disorder of sex development (DSD) is controversial among many activists and
community organizations due to the label "disorders".[21][22][23][24] Many governments and
 international institutions use the term 'intersex' in preference to 'DSD', or have called for the
review of medical classifications.[5][6]
In the past the term "hermaphrodite" was sometimes erroneously used to describe people with
intersex/DSD conditions. This term is no longer used to describe humans (or any other
mammals). The correct technical definition of a hermaphrodite is a single organism that has
complete sets of both male and female sexual organs, as is the case with most trees and flowering
plants.
Lee et al. in a 2006 Consensus statement on management of intersex disorders proposed a system
of nomenclature based on "disorders of sex development" for clinical use, suggesting that "terms
such as intersex, pseudohermaphroditism, hermaphroditism, sex reversal, and gender based
diagnostic labels are particularly controversial," may be perceived as pejorative, and are
confusing to practitioners and parents alike.[2] However, research by the Lurie Children's
Hospital, Chicago, and the AIS-DSD Support Group published in 2017 found that affected
persons, and care givers, object to the term, and that this may impact choice, access, and
utilization of health care providers.[3] Australian sociological research on people born with
atypical sex characteristics, published in 2016, found that 3% of respondents choose the term
"disorders of sex development" or "DSD" to define their sex characteristics, while 21% use the
term when accessing medical services. In contrast, 60% used the term "intersex" in some form to
self-describe their sex characteristics.[25]
In "We Used to Call Them Hermaphrodites," Eric Vilain states that "DSD" is not a synonym for
intersex; he states that it replaces medical terms based on "hermaphrodite".[26]
A committee of the Senate of Australia found that labelling intersex as "pejorative" appeared to
be a post-hoc rationalisation in the 2006 Consensus statement. It recommended a review of
clinical use of the term.[27]
Academics like Georgiann Davis[28] and Morgan Holmes, and clinical psychologists like Tiger
Devore[21] argue that the term DSD was designed to "reinstitutionalise" medical authority over
intersex bodies, making intersex bodies more treatable and more of a stigma" (Holmes).[29] or
place intersex "neatly into medical turf and safely away from critics of its medicalisation"
(Davis).[28]
In a 2013 paper on Preimplantation genetic diagnosis and "intersex conditions" Professor Jeff
Nisker describes how, "Once a difference becomes a medical disorder to which the medical
profession is dedicating time and resources to prevent, procedures to this end become endowed
with appropriateness"[30] In the same journal, Georgiann Davis references "intersex traits".[31]
Alternative terms have been offered: Milton Diamond has suggested the use of "variation"[32][33]
or of "difference",[34] Elizabeth Reis has suggested "divergence";[35] Liao and Simmonds suggest
"diverse sex development".[36] The latter suggestions would retain the initial D in DSD.

The 2006 Consensus statement on management of intersex disorders stated that evidence for
early surgery for cosmetic reasons is lacking, outcomes include "decreased sexual sensitivity"
and long term outcome data is absent.[2] A 2016 Global Disorders of Sex Development Update
since 2006 states that there is "still no consensual attitude regarding indications, timing,
procedure and evaluation of outcome of DSD surgery" and "no evidence regarding the impact of
surgically treated or non-treated DSDs during childhood for the individual, the parents, society
or the risk of stigmatization".[37]

In 2013, Juan E. Mndez, the United Nations Special Rapporteur on torture and other cruel,
inhuman or degrading treatment or punishment, condemned "irreversible sex assignment,
involuntary sterilization, involuntary genital normalizing surgery, performed without their
informed consent, or that of their parents, in an attempt to fix their sex" stating that "members
of sexual minorities are disproportionately subjected to torture and other forms of ill-treatment
because they fail to conform to socially constructed gender expectations".[38]

In May 2014, the World Health Organization issued a joint statement on Eliminating forced,
coercive and otherwise involuntary sterilization, An interagency statement with the OHCHR,
UN Women, UNAIDS, UNDP, UNFPA and UNICEF. Referencing the involuntary surgical
"sex-normalising or other procedures" on "intersex persons", the report recommends a range of
guiding principles for medical treatment, including ensuring patient autonomy in decision-
making, ensuring non-discrimination, accountability and access to remedies.[39]

During 2015, the Council of Europe,[5] and Inter-American Commission on Human Rights[6]
called for a review of medical classifications that unnecessarily medicalize intersex traits[5][6][7]
an end to medical interventions without consent, and improved disclosure. The Council of
Europe's Human Rights Commissioner recommended:

National and international medical classifications which pathologise variations in sex

characteristics should be reviewed with a view to eliminating obstacles to the effective
enjoyment, by intersex persons, of human rights, including the right to the highest attainable
standard of health.[5]

The European Union Agency for Fundamental Rights[7] and UN Treaty Bodies have called for
informed consent by individuals subjected to medical treatment, improved disclosure, and access
to redress.[40][41]