[Blog/Commentary] [USA] Nikki Araguz and an Androgen Insensitivity Syndrome Diagnosis

the trial of Nikki Araguz, USA

Thursday, September 9, 2010

Nikki Araguz and an Androgen Insensitivity Syndrome Diagnosis

Although many newspaper accounts have all but completely ignored the
fact that Nikki Araguz
was likely born with Androgen Insensitivity Syndrome (AIS), whether or
not she was born with this genetic intersex
condition could become an important, even essential, aspect of her
defensive response to the probate lawsuit filed against her by Heather
Delgado, her late husband's ex-wife, and Simona Longoria, her late
husband's biological mother. Ample supporting and contextual evidence
that Nikki Araguz was born with AIS has been presented in the media,
with the possibility that historical medical records will follow
later, along with DNA analysis to confirm what already seems apparent.

Some news articles have all but accused Nikki Araguz of faking or
lying about her claim that she was born with Androgen Insensitivity
Syndrome (AIS). Other news articles have simply ignored the topic, and
instead contain language that goes out of its way to refer to Nikki
Araguz in ways whose apparent intent is to negate and/or dismiss her
femaleness, femininity, and womanhood. Such news articles employ
specious characterizations such as "ex-man", "born a man", "born a
boy", and so on, when such statements may in fact be medically and
scientifically misleading, if not patently incorrect. Only during the
interview Nikki Araguz gave the Houston PBS television station, was
the topic of AIS considered in any detail, or given much legitimacy.

Unfortunately, few people seem to be aware of or understand what
Androgen Insensitivity Syndrome is, or the profound implications the
existence of such intersex conditions have on the very nature of
mammalian sex/gender determination and boundaries. Current genetic
science has revealed that sex/gender morphology involves far more than
the simple matter of an ostensibly immutable XX or XY sex chromosome
pair. Such inaccurate and misinformed notions form the flawed core of
general public knowledge all the way from incompetent high school
biology lesson plans to scientifically flawed appeals court rulings
such as Littleton v. Prange
, the appellate court ruling that may be central to the legal dispute
against Nikki Araguz. What follows is an examination of Androgen
Insensitivity Syndrome (AIS), why most people born with AIS are female
for nearly all practical purposes, and how AIS may be important in the
lawsuit against Nikki Araguz.

Briefly stated, Androgen Insensitivity Syndrome is a genetic condition
in which the people born with it don't respond to testosterone or any
other form of androgens. Many females with a 46XX sex chromosome
configuration have this congenital condition, but may never notice it
because the condition has little consequential impact on them.
However, when a person with a 46XY chromosome configuration is born
with this genetic immunity to the influence of testosterone and other
androgens, the consequences can be profound, biologically and
socially. In the most profound instances, such people are born with
female genitalia and develop within female norms during puberty, with
the exception that they cannot and do not menstruate because they do
not possess a uterus or ovaries. They truly are women, females with a
46XY sex chromosome pair, although they are infertile. Until the
mid-twentieth century, such women lived generally unremarkable female
lives, with the exception that they could not bear children, although
medical science did not understand why at the time. Only after
twentieth century medical science began to develop sophisticated
non-invasive diagnostic technologies, and the ability to analyze the
human genome, did geneticists discover that these women have a 46XY
sex chromosome pair. The medical literature documents that,
historically, very few of these women were ever told of the precise
cause for their inability to menstruate and procreate. It has only
been a few decades since most such patients have become better
informed about the true nature of their condition. In fact, DNA
analysis only became sophisticated enough in the late 1980s, to enable
genetic researchers to pinpoint the true genetic nature of AIS.

Before human genome analysis revealed the precise cause of AIS, the
medical terms used to describe it were extremely unflattering,
potentially misleading, downright insensitive, lacking in perspicuity,
and are not worth repeating. Even recently however, television
portrayals of AIS, have been strikingly insensitive, such as in the
February 20, 2006 episode of the FOX television network series House,
MD <http://en.wikipedia.org/wiki/Skin_Deep_%28House%29> , in which the
insensitive writers had the fictional protagonist Gregory House, MD,
an insensitive character anyway, state with completely inconsiderate
tactlessness and cruelty that, "the ultimate woman...is a man", in
reference to his teenage supermodel patient who they discover was born
with AIS, when in fact it is entirely misleading and unrepresentative
to refer to women born with complete AIS as "men" or "male".
Furthermore, the medical scenario presented in the television program
is highly improbable if not entirely unrealistic, perpetuating the
myth created decades ago that women with AIS get gonadal cancer, which
physicians routinely employed to persuade such patients to have gonad
removal surgery. The fictional story was inadequately researched by
its writers and the show's producers. The episode also included a sub
plot that revealed the patient's father had committed incest with his
AIS daughter. Even the wikipedia.org article about this fiction House,
MD episode repeats the deprecated, antiquated, and outmoded, use of
the term male pseudohermaphroditism to refer to the general category
of intersex conditions that involve people with some form of genetic
configuration which includes a Y sex chromosome. The sort of fictional
exploration of AIS presented by this television program all too often
has significant influence upon the factual impressions the general
public develops about such topics.

In a yet more recent fictional television episode, from an NBC
television series called Mercy
<http://en.wikipedia.org/wiki/List_of_Mercy_episodes> , which aired
November 18, 2009, an even greater disservice was done to public
education when that program incorrectly portrayed AIS as a condition
in which the character involved, a beautiful teenage girl cheerleader
hospitalized for a kidney infection, with an outwardly normal female
appearance, but with ambiguous genitalia that included a vagina, but
with an enlarged penis like clitoris the physicians predicted would
become more male over time without surgical intervention. The episode
was medically incorrect and misleading because people with AIS don't
respond to testosterone. In fact Nikki Araguz exhibits a more classic
representation of AIS, in which the opposite occurs. Her genitals
could not develop because her body doesn't respond to testosterone.
Consequently the rest of her body developed during puberty into an
otherwise normal looking female human being by the age of eighteen,
except for her undeveloped ambiguous genitalia. Consequently, it isn't
likely that the undescended and usually nondescript gonads in a woman
with AIS would descend completely to become a scrotum with testes, as
the above episode of Mercy incorrectly implied. It is no wonder that
the general public has developed hostile and antagonist attitudes
toward people with intersex traits, after such television programs use
negative social engineering techniques to instill bigotry in the minds
of average people. One redeeming aspect of this episode of Mercy, was
its portrayal of the AIS patient's ultimate medical treatment, which
was to leave her alone, so that she could take her own time to
consider the profound implications of her congenital condition, to
determine for herself how she wanted to deal with it.

Before getting any more deeply into the practical and sociological
consequences of Androgen Insensitivity Syndrome and other intersex
conditions, a more detailed explanation of AIS seems in order. As
stated previously, people born with AIS don't respond to androgens,
such as: testosterone <http://en.wikipedia.org/wiki/Testosterone> ,
dihydrotestosterone <http://en.wikipedia.org/wiki/Dihydrotestosterone>
(DHT), and other related hormones. In 1989 the precise gene that
provides this response, the androgen receptor gene (AR gene), was
discovered as part of the broad scientific effort to map and
understand the entire human genome. What may surprise the average
person is that the ability to respond to androgens is carried on the X
chromosome. In fact, a significant amount of the genetic information
that supports so called male features exist on the X chromosome, not
the Y chromosome. Women with AIS who are born with a 46XX sex
chromosome pair, generally don't notice that they have the condition.
In such women, the symptoms are often very minor, such as having only
sparse pubic hair and sparse axial hair development. However, they are
carriers who can pass on this genetic condition to their offspring who
have a 46XY sex chromosome pair. When the androgen insensitivity is
profound, and occurs in someone with a 46XY sex chromosome pair, the
resulting offspring most often appear to be normal females at birth.
Their genetic and hormonal condition usually isn't discovered until
their late teens, after they have failed to develop a menstrual cycle.
Other individuals with AIS may be born with what appear to be
underdeveloped male genitalia, but whose genitalia fail to grow and
develop during childhood, and who then feminize during puberty, often
profoundly, because they have little or no response to androgens.
Nikki Araguz appears to be a woman for whom AIS has exhibited this
second set of physiological and morphological characteristics. By age
nineteen, her outward appearance was that any other female her age,
although she apparently possessed rudimentary and underdeveloped male
seeming genitals. Specific medical details about the condition of her
reproductive organs at the time in here life have not yet been
publicly revealed.

[Image: <http://bit.ly/aEU2hO> androgen receptor gene on X sex chromosome (3) ]

Meanwhile, the genetic basis for Androgen Insensitivity Syndrome is
now well understood. With each passing year, additional details about
AIS have been discovered as new AIS patients present themselves to
medical professionals, and their genomes have been studied in detail.
The root cause of Androgen Insensitivity Syndrome was discovered in
1989, when geneticist Celeste J. Brown, Ph.D.
, and colleagues, discovered the androgen receptor gene (AR gene) and
subsequently described it in various medical journals (2). The AR gene
exists at the location Xq11-12 on the X sex chromosome. Its features
are encoded on eight exons <http://en.wikipedia.org/wiki/Exon> within
the AR gene (see illustration above). Androgen insensitivity appears
in various forms from profound to mild, based on whether defects occur
in all, or sometimes just one or more, of the exons within the AR
gene. The various types of AIS gene defects include: single location
mutations involving substitution of the wrong amino acid or insertion
of a genetic stop marker in the DNA sequence where the AR gene should
be; insertion or deletion of nucleotides
<http://en.wikipedia.org/wiki/Nucleotide> that cause a position shift
of one or more genes within the X chromosome; complete or partial
deletions of the AR gene; and mutations that involve various forms of
gene splices within the X chromosome. More than 400 different AR gene
mutations have been discovered thus far, and more are discovered as
genomes of newly discovered AIS patients are analyzed (3)
<http://hormones.gr/preview.php?c_id=227> . What these AR gene defects
demonstrate, is that development of a fully functional male phenotype
(physical body morphology) requires not just a functional Y chromosome
but also a functional AR gene on the X chromosome, other X chromosome
linked genetic features, and appropriate hormonal conditions during
gestation. When the AR gene on the X chromosome is completely
defective, called Complete Androgen Insensitivity Syndrome (cAIS), the
person with the AR gene defect is born with a female phenotype (female
physical body morphology), despite having a 46XY sex chromosome
genotype. Complete Androgen Insensitivity Syndrome is just one of many
examples which prove that physical sex/gender determination is far
more involved than a mere matter of having an XX or XY sex chromosome
pair, one of the faulty notions on which the Littleton v. Prange court
ruling, and similar rulings in other jurisdictions, are based.

[Image: <http://bit.ly/9Psxmm> [a] Untreated adult woman with pAIS and
ambiguous genitalia]

People born with what is characterized as complete Androgen
Insensitivity Syndrome (cAIS), have one of various genetic defect
types that affect the entire AR gene, rendering them profoundly
incapable of processing androgens. The cells throughout their bodies
simply do not contain working androgen receptors. For all practical
purposes, these people are females, with female body types, except for
the absence of functional ovaries and a uterus. They are invariably
declared female at birth and are given female birth certificates. If
they have a 46XY sex chromosome pair, that is usually only discovered
during puberty, and only because of recent advances in medical
diagnostic technology. It has only been possible for scientists to
make such genetic determinations since the advent of DNA analysis.
People born with less profound forms of AIS, called partial Androgen
Insensitivity Syndrome (pAIS), usually have one or more working exons
within the AR gene. Because there are multiple ways in which a gene
can become defective, and because the various ways in which the
defects are caused and may effect only some if not all of the exons,
the correlation between specific AR gene defects and their
morphological consequences in the people with them are still being
cataloged by geneticists, although many have already been enumerated.
The clinical photo [a] just above, illustrates an example of a woman
born with pAIS, an overall female body type, and ambiguous genitalia.

[Image: <http://bit.ly/cYLyrZ> [b] newborn with ambiguous genitalia]

It should be clarified that a direct correlation between defects in
all eight exons within the AR gene and development of female genitalia
does not appear to have been established. Nor has the reverse
condition, where someone with a completely defective AR gene may have
developed rudimentary male genitalia during gestation, despite having
a complete inability to respond to androgens. However, most people
with partial AIS and a 46XY sex chromosome pair appear to develop male
genitalia at least to some degree, while most people with complete AIS
seem to develop female genitalia in nearly all cases. In other words,
it is possible that Nikki Araguz could have a completely inoperable AR
gene, where none of the eight exons are functional, and yet she still
developed some level of male genitalia during gestation. Such a
combination seems likely to also account for her profound level female
secondary development during puberty, with regard to pelvic widening
and breast development during puberty, lack of facial bone bossing,
lack of body hair other than head hair, and so on. There is every
possibility that by the time Nikki Araguz reached adulthood, her body
looked similar to the example in the clinical photograph [a] above.

It should also be noted that the scientific, social, and political,
dynamics that AIS and similar genetic conditions represent have been
largely kept underground by the medical and scientific professions
until recent decades. It has taken significant pressure from people
born with intersex conditions, including AIS, to change the practices,
behaviors, and apparent beliefs, of many medical professionals about
how to manage intersex patients. A significant portion of the medical
profession continues to be resistant to fully informing and involving
many intersex patients in their own treatment. The medical profession
also continues to under report the prevalence of intersex conditions,
including AIS, while independent sources have developed prevalence
statistics that may be as high as 1:5,000 (5). The history of the
medical profession's treatment of intersex patients has been dominated
by their lying to such patients, performing surgeries on them without
any reasonable level of informed consent, treating them and studying
them like lab rats, and making profound decisions about the lives of
intersex infants, many of whom experience extreme indignation and
humiliation when they discover the truth later in their lives.
Throughout the 1960s, 1970s, and 1980s, there are hundreds of
documented cases in which surgeons lied to their AIS patients, telling
them that their gonads could become cancerous, in order to persuade
them that they should be removed, with the physician's hope that doing
so would help such patients confirm their female identities. The
perpetuation of this mythology has become so prevalent that many
recent generation physicians continue to believe it, without any
reasonable statistics to support the incidence of such malignancies!
These are cases of what may have seemed like good intentions many
decades ago, but intentions many people now believe had gone extremely
ethically and medically wrong. Such surgeries are the intersex
equivalent of prophylactic mastectomy for women who have the BRCA1
breast cancer gene, although performed without informed consent or
adequate evidence of actual risk.

If Nikki Araguz and her attorneys believe it helps their case to prove
that she was born with AIS, they can have a medical specialist perform
appropriate DNA analysis, including a detailed mapping of her X sex
chromosomes(s) and specifically the AR gene within it or them. Such
DNA analysis can irrefutably determine what mutations if any exist
within Nikki's AR gene, and the likely physiological and morphological
consequences associated with those genetic mutations. Such a
diagnostic confirmation would clearly differentiate the nature of her
case from the arguments made by justice Phil Hardberger in his
Littleon v. Prange ruling. The attorneys representing Nikki Araguz
would have a strong basis for claiming that Nikki's original birth
certificate was a medical error, and that there is a reasonable
medical basis for both the mistake and for changing it to provide a
female classification on her birth certificate, notwithstanding
California law regarding provision of a new, changed, birth
certificate after genital reconstruction surgery.

Although genetic analysis can irrefutably determine whether or not
Nikki Araguz was born with Androgen Insensitivity Syndrome, secondary
evidence has already appeared in media reports that support her claim.
As a first example, Nikki's mother, Sheri Bockelman, has reported that
two of her five sisters were born with a genetic abnormality
<http://www.houstonpress.com/content/printVersion/1935902/> that
causes uterus didelphys. According to Sheri Bockelman, her sisters who
have uterus didelphys <http://en.wikipedia.org/wiki/Uterus_didelphys>
, were each born with a double uterus and only one kidney (6). This
could be evidence of a correlation between the X chromosome gene
defect that causes uterus didelphys, and the X chromosome gene defect
that damages the X sex chromosome and causes Androgen Insensitivity
Syndrome. If such a correlation exists, Sheri Bockelman may also be an
AIS carrier and not know it, which would be further supporting
evidence that could be confirmed with DNA analysis of Sheri
Bockelman's sex chromosomes to determine if she is an AIS carrier.

[Image: <http://bit.ly/9ErPUm> Nikki Araguz - at age nineteen]

A second example of evidence supporting Nikki Araguz's claim that she
has AIS, is the video documentary made of Nikki Araguz when she was
about age nineteen, during her college years. The video provides
dramatic evidence that her body had already developed into an
outwardly normal appearing female one by then, apparently without
exogenous hormonal intervention. In support of the AIS diagnosis,
Nikki Araguz's facial features then, and now, do not show any evidence
of being affected by testosterone. When working androgen receptors in
the facial bones are stimulated with testosterone, they produce the
classic square male jaw, taller chin, forehead bossing, nasal
cartilage growth, and other features associated with male faces,
featured that are the product primarily of hormonal stimulation,
rather than purely genetic encoding. Since androgen receptors in the
cells throughout the bodies of people with AIS do not respond to
androgens, they can never develop such male facial characteristics.
Parenthetically, such hormonal responses are not dependent on the
existence of a Y sex chromosome. In all humans with a normal AR gene,
cells throughout the human body are capable of responding to both
estrogens and androgens, which is what makes hormone therapy for
transsexual people possible, causing masculinization in transsexual
men and feminization in transsexual women.

Medical records should certainly provide a third source of evidence to
support Nikki Araguz's claim of being born with AIS. Even if
historical medical records from Nikki Araguz's childhood have long
since been lost, it seems likely that the surgeon who performed
genital reconstruction surgery on Nikki Araguz, Marci Bowers, MD, took
photographs of Nikki's external genitalia before surgery, and
documented the contents of Nikki's abdominal cavity in her surgical
notes. In addition, if Nikki's congenital genitalia were indeed
underdeveloped, she would likely have needed a full-thickness skin
graft as part of the vaginoplasty surgery she received, which is
usually taken from the location where a tummy tuck procedure would be
performed, would have been documented by Dr. Bowers in her surgery
notes, and Nikki Araguz would have the resulting horizontal scar
across her lower abdomen left behind as proof. It seems likely that
Dr. Bowers might be called upon to testify, about her direct
observations during her surgery on Nikki Araguz, and as an expert
witness about intersex conditions and surgery for them.

[Image: <http://bit.ly/cbLNFi> Nikki Araguz when the lawsuit began]

It seems predictable that both sides of the lawsuit against Nikki
Araguz will seek to obtain DNA evidence to confirm whether or not
Nikki has Androgen Insensitivity Syndrome and to determine the
configuration of her sex chromosomes generally. There is a small
chance that Nikki Araguz may have a sex chromosome configuration other
than 46XY. It is even possible that she could have some form of sex
chromosome mosaic, such as 47XXY. It would seem irresponsible for a
competent Texas court of law to make a ruling based on Littleton v.
Prange, without having DNA evidence about the sex chromosome
configuration of both Thomas and Nikki Araguz before it. If the
attorneys representing Nikki Araguz obtain DNA evidence that confirms
her Androgen Insensitivity Syndrome diagnosis, observers should expect
Nikki's attorneys to try to also obtain expert testimony from a
geneticist like Celeste J. Brown, Ph.D, who is surely an expert in
Androgen Insensitivity Syndrome, to testify about the condition, about
its manifestation in Nikki Araguz, and about its implications with
regard to a pragmatic sex designation for Nikki Araguz. Armed with
appropriate evidence, the attorneys representing Nikki Araguz should
be expected to argue that issuance of a second, female, California
birth certificate to Nikki Araguz was correction of a genetically
supported medical sex designation error at the time of her birth,
rather than a modification as a consequence of the surgical gender
reassignment of a transsexual woman. Such an argument would
differentiate it from the conclusions reached in the Littleton v.
Prange case, and possibly render Littleton v. Prange irrelevant to
Nikki's case.

Only detailed DNA analysis can determine whether some or any of the
eight exons within Nikki Araguz's AR gene are functional. However,
both Nikki Araguz and her mother, Sheri Bockelman, have described the
genitalia she had at birth as underdeveloped. Both of them have also
reported that her genitalia failed to develop further, as male
genitalia would during childhood and puberty, in response to
endogenous, systemic androgens. In addition, Nikki Araguz's apparent
inability to respond to androgens seems readily apparent in both
historical and contemporaneous photographs and video of her.

Even if DNA tests confirm that Nikki Araguz was born with Androgen
Insensitivity Syndrome, her attorneys seem likely to have an uphill
legal battle, especially because of the judicial composition of Texas
courts. Nikki Araguz's attorneys also seem likely to have an uphill
battle because the fact pattern supporting Nikki's defense case
includes facts which her adversaries seem likely to argue against as
vulnerabilities pursuant to Littleton v. Prange
. However, the attorneys representing Nikki Araguz could argue that
her case should be distinguished from the Littleton v. Prange ruling
if the diagnosis that she was born with AIS is confirmed. It also
seems likely that the attorneys who represent Nikki Araguz will need
to attack various aspects of Littleton v. Prange directly anyway,
using scientific expert witness testimony and supporting medical
evidence to make a case that the Littleton ruling should not and does
not apply to Nikki, even if it might apply to other people. Surely,
having a woman with a medical history of AIS before the courts in
Texas presents cogent and convincing evidence that Littleton v. Prange
is an unworkable and illogical ruling. If successful though, such an
approach could also lead to a judicial ruling that might possibly make
the result of the case inapplicable to the Texas transsexual
population generally as well.

In addition, if the courts in Texas are asked by Nikki Araguz's
attorneys to consider the 2009 statutory change to Texas marriage law
<http://www.statutes.legis.state.tx.us/Docs/FA/htm/FA.2.htm> (6) in
order to make a determination about her case, even when considered in
a most favorable light, that statutory change may be considered
ambiguous by the court, and open to multiple interpretations. Given
the language of the 2009 Texas marriage statute modification, it isn't
clear how a diagnosis of AIS might help Nikki Araguz in any regard,
since the statutory change regards court documentation of "change of
sex" as valid identification for a marriage license, while an AIS
diagnosis would provide the basis for an argument that Nikki Araguz
was not "changing sex", but was instead being surgically assigned a
sex from a state of congenital, genetic, and morphological sex/gender
ambiguity. It doesn't seem likely that a court of law would accept
such contradictory arguments. Despite this, attorney Darrell Steidley,
who represents Nikki Araguz, has filed a Motion to Dismiss
, on the basis that the 2009 marriage statute renders Nikki's marriage
to Thomas Araguz legal and valid as of September 2, 2009, as an
informal marriage. Given the foregoing, if DNA analysis confirms Nikki
Araguz's Androgen Insensitivity Syndrome diagnosis, such a diagnosis
adds complexities to her case that may enable she and her attorneys to
succeed, but which could also make the related sociopolitical crusade
desired by some segments of the transsexual and intersex populations
less then relevant to it.


(1) Dihydrotestosterone

(2) Brown CJ, Goss SJ, Lubahn DB, et al, 1989 Androgen receptor locus
on the human X chromosome: regional localization to Xq11-12 and
description of a DNA polymorphism. Am J Hum Genet 44: 264-269.

(3) Androgen insensitivity syndrome: clinical features and molecular
defects; Angeliki Galani, Sophia Kitsiou-Tzeli, Christalena
Sofokleous, Emmanuel Kanavakis, Ariadni Kalpini-Mavrou


An additional article about Androgen Insensitivity Syndrome but with
extremely low prevalence statistics:


(4) An extended survey of numerous intersex conditions involving
people with a 46XY sex chromosome pair


(5) ... data suggest an androgen insensitivity syndrome incidence of
approximately 1 case per 20,400. This statistic is based on analysis
of a Danish patient registry that included only hospitalized cases;
thus, the true incidence of androgen insensitivity syndrome may be


(6) Texas Family Law Code: Title 1, Subtitle A, Chapter 2, Subchapter
A, Section 2.005, Paragraph (b)(8)

Texas Family Law Code: Title 1, Subtitle A, Chapter 2, Subchapter A,
Section 2.005, Paragraph (b)(8)

Posted by this site at Thursday, September 09, 2010


You received this message because you are subscribed to the Google
Groups "Transgender News" group.
To unsubscribe from this group, send email to
For more options, visit this group at

No response to “[Blog/Commentary] [USA] Nikki Araguz and an Androgen Insensitivity Syndrome Diagnosis”

Post a Comment