and 9 at 1 and 5 minutes, respectively, a newborn was delivered with a birth weight of 6 pounds 5 ounces.
The physical examination was unremarkable, except for complete absence of the penis. The scrotum
appeared normal with bilateral palpable gonads of normal size. A voiding cystourethrogram demonstrated a
normal bladder without uretero-vesical reflux; the contrast study revealed that urine partially emptied into the
rectum and colon. The urethral meatus was positioned at the anterior anal verge. Karyotype was 46 XY. This
is the third child for this couple. They have a 4-year-old boy and a 6-year-old girl.
To which sex should this infant be assigned? Accompanying decisions concern disclosure of information to
patient and family (what should be disclosed about the condition and its treatment and when?); surgery to
have the genitalia match the sex assignment, or alternatively, female genital anatomy (what should be done
and when?); psychological support of the patient and family (who should provide it and what model of care
should be followed?); and involvement of other family members and friends (should they be told, and if so,
what should they be told and when?). J Dev Behav Pediatr 24:115 –119, 2003. Index terms: ambiguous
genitalia, sex differentiation, intersex, biomedical ethics, penile agenesis.
As all intersex situations, that also is a disgusting one.
This challenging case is a rare condition that will not be
encountered by most pediatricians. However, it represents a
dramatic example of other more common conditions
discovered in the newborn period associated with ambiguous
genitalia. Primary care pediatricians are often the first
to recognize the structural abnormalities in the external
genitalia and the first to speak to the parents about the
condition. A knowledge of genetic and endocrinological
principles that modulate fetal sex differentiation is essential
but insufficient to provide comprehensive information to
the parents. The influence of fetal sex hormones on gender
identity and the incorporation of principles of patient rights
and patient autonomy are additional areas of knowledge
required to guide therapeutic decision making.
That last phrase, for me, is the most important, perhaps, in that paper:
The influence of fetal sex hormones on gender identity…. the incorporation of principles of patient rights….. and patient autonomy.
Those 3 aspects, for me, are the most important in all gender dysphorias situations, intersex or any other: remember the hormone action during pregnancy….... respect the patient’s rights and respect the person autonomy.
Understand the first, and recognize the second and the third, that is the way, surely, to understand better all those situations.
But who is the patient? The child, the baby, the intersex or gender dysphoric, AND NOT its family.
A variety of new concepts about newborns with intersex
conditions have surfaced in the medical and bioethical
literature. They reflect recent knowledge about the complexity
of gender identity and gender role, bioethical considerations,
and the influence of patient advocacy groups.
Gender identity and gender role. And the influence of patient advocacy groups.
As you will see, I think the most part of our difficulties start when we mix up gender identity with gender role playing in society, as a point of principle. And all the time, we are mixing them up, in the next 50 years.
Another note is: why need the patients to have advocacy groups? Surely because they feel as victims of someone, or something. Only someone that thinks he has rights, fight with an advocacy group. And if he has rights, and need to fight, is because someone or something gave-up, in some situation, his rights (pardon me my English. Those things are complex to explain in Portuguese… for me in a foreign language is almost impossible! But I will try)
These recent considerations are of interest to developmentalbehavioral
pediatricians in that they focus on critical aspects
of subsequent developmental outcomes.
Drs. David Sandberg and Tom Mazur are pediatric
psychologists who specialize in the care of children and
adolescents with endocrine disorders. They are members of
a comprehensive clinical management team in pediatric
endocrinology at the Children’s Hospital of Buffalo and the
Departments of Psychiatry and Pediatrics, University at
Buffalo School of Medicine and Biomedical Sciences.
Drs. Sandberg and Mazur are involved in clinical research
on the psychological adaptation of individuals with a
variety of endocrine-related conditions and their families.
Dr. Erica Eugster is a clinical associate professor of
pediatrics in the section of pediatric endocrinology at
the Riley Hospital for Children in Indianapolis, Indiana.
Dr. Jorge Daaboul is an assistant professor of pediatrics in
the Division of Pediatric Endocrinology at the University
of Florida, College of Medicine. Dr. Daaboul has studied
ethical issues that impact the early decision making in
children with intersex conditions.
Martin T. Stein, M.D.
Professor of Pediatrics
University of California San Diego
Children’s Hospital San Diego
San Diego, California
I would like to thank Martin Stein, for that so interesting introduction. So correct, so perfect introduction of the problem.
Don’t be fooled—this rare case has more to teach than you
might think! The infant is born with the extremely rare
condition of penile agenesis (also known as aphallia).
Mortality is high, because of associated urinary and gastrointestinal
tract problems; however, complex forms of these
associations are absent in this particular infant. Although
rare, the case illustrates common challenges in the clinical
care of patients with disorders of sexual differentiation
(‘‘intersex’’), in whom there is discordance among sex
chromosomes, gonads, sex hormones, and phenotypic sex
(internal reproductive structure and external genital appearance).
Thank you Tom for your words here. I like very much that concept of different tissues, different aspects discordance, that generates intersexuality and also all dysphorias. All dysphoria shows a discord, a lack of inner harmony.
Until the mid-1950s, medical management of individuals
with intersex conditions was guided by the belief that an
individual’s ‘‘true sex’’ could be revealed through examination
of internal anatomy. It was assumed that a person’s
identification as male or female would naturally conform to
That “True Sex” concept is very important. I think it is more important than we think today. Not as we considered in the past, thinking true was only genital anatomy. That idea to resume sex as genitals, saying that is true, is one of the most difficult concepts in humam mind, because is inside us for millions of years, or almost some cents of thousands of years. My MS sexology dissertation was about it, but unfortunately, it is only in Portuguese. But I think, we need really to find a “true sex”, because each of us has a true sex: male, female or androgynous, but surely, existentially for each of us, it is true.
Based on reports suggesting that this assumption
was incorrect, guidelines were changed, and sex assignment
decisions were based on the principle of ‘‘optimal gender,’’
which considered multiple aspects of outcome, most
prominently potential for complete sexual functioning.3
That “Optimal Gender”, in my philosophical point of view, is a way to non respect the autonomy and the right of each human being to exist, and exist as feels its life and its sex and reality. I prefer we continue looking for the “True sex”, not anymore as a genital condition, but as one existential condition.
I think that constructivist point of view, of social and anthropological construction of gender identity as gender role playing and gender dichotomy as only a cultural and ideological construction, is a very hard reduccionism, reducing the human being as an object (reification), and not recognizing the human rights of all humans as persons, as a whole, with its autonomy.
This approach, which stood largely uncontested until
Thank the Heavens, now it is changing!
is predicated on two assumptions:4 (a) ‘‘gender
identity’’ (i.e., identification of self as either girl/woman or
boy/man) is not firmly established at birth but rather is the
outcome of rearing sex; and (b) stable gender identity and
positive psychological adaptation require that genital
appearance match assigned sex, which often calls for
reconstructive genital surgery.
Tom, those two points of principle, are not “scientifical”, based in research and evidence, but ideological, based in pre-conceptions. Based in Freud’s & Fliess ideas, in XIX century! Based not in science, but in ideologic points of principle, too!
That is the first big problem of that old point of view: those two ideologic principles. See, all the time, we have philosophical and ideological principles in question, and never true science.
It is essential to distinguish
between gender identity and other aspects of gender-related
behavior, which may be influenced by prenatal hormones.
This includes ‘‘gender role,’’ which refers to behaviors that
differ in frequency or level between males and females in
this culture and time (such as toy play or maternal interest),
and ‘‘sexual orientation,’’ which refers to sexual arousal to
individuals of the same sex (homosexual), opposite sex
(heterosexual), or both sexes (bisexual).
Here there is a very interesting mistake, also an ideological mistake. And subreptitiously, the developers of those ideas, introduced more “points of principle”, without any scientifical evidences.
Money’s work, and later also Erhardt & Meyer-Bahlburg paper (1980-Science), defined as Points of Principle, that the patterns of playing are related to gender role playing, and not to gender identity. History and arqueology shows us, that is not true. In India and Pakistan, in Mohenjo –daro and Mergharth excavations of pre-Vedic cultures, probably Drawidian, they discovered a lot of typical female ornaments for ears etc.. with more than 8000 years. The same occurred in Egypt, in pre-dynastic Egypt, in Naqada culture, some 7000 years ago. Women, in all cultures, like to feel beautiful and desirable, etc… independent of culture, but dependent of gender identity.
And they established, as another point of principle, gender identity was not related to sexual hormones during gestation, but “gender roles”. That point of principle, is also not scientific, but ideological. That was their definition, but not the reality.And they based that conclusion, in the point of principle that any non human primate or mammal, had a core identity. Primatologists today show chimpanzees and bonobos have surely a core identity.
All gender dysphoric victim shows all the time, during first childhood, its inner tendencies, with its playing patterns. LATER, with not so small age, the family, the others start interfering in that playing patterns, and from gender identity expression, the child starts changing to a gender role expression. A lot of victims show it thru their anamnesis, and explain very well it. And good science is based on evidences, thru the external answer of the patient, and not based in our internal models and ideologies.
So, there are gender identity and gender roles. But surely, the hormones are important for gender identities, and never for gender roles. Gender roles are truly role playing… something socially constructed. Gender identity is inner feeling.
What feels in us?
Our selves are the virtual creation of our brains!
The hormones may act not in society, but in the children’s brains, so they may be important for gender identities and never in gender role playing.
Those papers in the 70’s and 80’s where very distorted ideological papers, and never were based in scientifical evidences, but in the inner ideas of the authors.
They fought against a lot of evidences, from Imperato McGuinley, from Dorner, from Gorsky, from Swaab, etc, using only ideological Points of Principles. Fortunately, now, we are not being so misled by those points of principles.
The clinical approach to disorders of sexual differentiation
(‘‘optimal gender policy’’) has recently been
criticized from several perspectives. First, the notion of
gender ‘‘neutrality’’ at birth has been challenged as a result
of a widely publicized case.5 The individual in this case
has a 46, XY karyotype and was born with normally
formed male genitalia. After a circumcision accident at the
age of 7 months left him without a penis, the child’s
gender was reassigned, but not until 17 months, and the
child was subsequently reared as a girl. This individual
(referred to as ‘‘John/Joan’’) has been studied extensively
as an adult.6 He reports having been uncomfortable as a
girl (‘‘gender dysphoric’’) and, starting at age 14 years,
began to live as a male. He received a mastectomy and
began testosterone replacement therapy in adolescence
followed shortly after by phallic reconstruction. At age 25,
he married and adopted the woman’s children. The gender
dysphoria and ultimate sex reassignment of this individual
is believed by some to have been predictable from
experimental studies in animals in which exposure to
androgens during sensitive periods of early brain development
is associated with male-typical brain and behavioral
That David Reimer history is very impressive. Surely, happened a scientific manipulation of the results. The patient was all the time disrespected, because the ideas, theories and ideologies were more important than reality. The Points of Principle, were only ideological but not scientifical ones.
Although animal experimental research has
shown a relation between prenatal androgen exposure and
sex-dimorphic behavior, such studies have not examined
‘‘gender identity’’ per se.8
That is a very important ideological point of principle: Animals don’t have any identity, so they cant have gender identity. That is a philosophical, ideological point of view. That is not science researching and evidence. On the contrary, today, Damasio’s works in neurobiology, and a lot of works in primatology from de Waal (see Bonobo, the forgotten ape, de Waal& Lanting, 1997, U California Press) and a lot of others (mainly Walraven et al,1995 ; Westergaard & Hyatt, 1994), show all animals, including man, have a “core identity”, and in that core identity, they show they feel male or female, they feel one gender identity. Obviously not as humans, but as someone.
Each animal, each organism, really each closure, organic closure, is a someone and not a something. And each one, in its own way, feels female or male. That is gender identity. That surely is gender identity in man and other primates, and other mammals.
When the “animal shows its sexual answers thru a lot of situations, as the little child, they are showing and expressing their gender identity, surely. Why not? So, all scientific evidences point that way, and don’t agree with those old ideological Points of Principle.
The impact of the John/Joan
case for clinical practice is also tempered by the report of
another child with a traumatic amputation of the penis with
considerably different outcome.9
The big difference is, all old idea was accepted as “science”, because David’s results reported by Money and his co workers (those two old books) gave the experimental background for those “points of principle”. During a lot of time, during the sixties, seventies and eighties……but now, when truth appeared, the castle dismantled.
Today what we may say?
Sometimes, perhaps, may be, sex of rearing may be important. But surely we may say, it is not the determining factor to generate gender identity.
All those ideological points of principle dismantled. We need now, to study hard, BASED IN SCIENCE AND EVIDENCES and never more in our ideological points of principle, what is truly important in gender identity determination.
As new “points of principle”, more scientifically based ones, we have now:
1st: Gender identity is the expression of our brains. We are the virtual construction of a self, from our brains and body. Descartes was not correct (See Damasio’s “Descartes Error” and posterior papers). There is no self, and no gender identity, without a neural brain behind. So, let’s understand our brains, and discover how and when gender identity is formed in the brain.
2nd: The gestational hormones circulation, action, and activation, mainly testosterone and its metabolites, play an essential role in that process. We are not sure how it works, but we have a lot of evidences among other animals (Gorsky, Dorner, Swaab, Pfaff, etc), non human primates ( Resko, Bonsall, Michael, Sholl, etc) human cadavers (Dorner, Swaab, Gorsky, McEwen, LeVay, etc) and alive humans (Kawamura, etc), that gestational hormones are very important in the human and other animal’s brains, in systems surely related to gender identity (Newman,2000).
3rd: As the genital tissues may have conformation problems, including cross gendered problems, as intersex conditions, why not the brains, as another part of the body, could not have the same kind of problems?
4th: We know, today, thru primates results (Bonsall, Michael, Resko, Roselli, etc), that in our brains and our genitals, the hormone action IS NOT THE SAME! We have a lot of results about that. So, if the processes involved are different, and the agents are also different, why not could have different results, sometimes? Why a very interesting study in that way never was developed? Why not?
5th: Another interesting scientifical evidence: who masculinizes the genitals is DHT. Who masculinizes the brain IS NOT DHT, but testosterone. And there may happen a differential activation of the androgen receptor, by DHT and T (Pinsky& Kaufman, Gottliebe, etc). So it is possible (only possible), that sometimes, in some transsexual situations (not necessarily all), could happen a good action of DHT in the genital tissue, but a not so good of T in the brain! No one, up until now, studied that possibility, seriously. I tried to study it in Brazil, but the universities here denied that possibility to me.
Tom I don’t know how is formed the gender identity. Surely, a lot of inputs contribute in that existential formation. But what I am sure is, that formation happens in the brain, mainly during pregnancy (Clark,et al, 1988). After birth…society, families, etc, modulate and limit gender identity expression and living. And all that problem generates a lot of existential problems, for all intersex, transsexuals and all gender dysphorics, that live that kind of discord as its inner reality.
As an adult, the individual
maintains a female gender identity, although she
exhibits masculine occupational and recreational interests
and a bisexual orientation.
A second challenge to the ‘‘optimal gender’’ policy
comes from intersex individuals themselves, who are angry
about their treatment.10
Here I think it is important to split between the dysphoric or intersexual, and its family and parents. The victim here, the patient here, for me, is the child, never the family. So, what the intersex say? Wait please! Because if you make a mistake, for you will be only statistics, books and papers…. for the family will happens something disgusting and boring…. but for us,the gender dysphorics, intersexual or transsexual, we will live a hell!
A lot of assigned at childhood intersex remain insensible, anorgasmic….truly destroyed. They remain as gender dysphorics (MtF or FtM), and sometimes, even without a gender dysphoria, they have a sexual dysphoria, because they feel assexed people, without pleasure, without possibilities.
They hide themselves. Here in Brazil, a TV channel asked me to show some intersex and hermaphrodites, to interview them in a talking show. I said them, NO! It is impossible, it would be very aggressive against them! They exist, I have a lot of patients that suffer that kind of sufferings, but they may never be socially exposed that way.
Because all they need, is respect, and the right to be themselves, in their way of living and suffering. What we may do for them? We may do, what Money don’t did: respect their feelings. Their feelings are more important than their families, than their schools and neighbors, then their relatives, I say, even, for me their feelings are more important than Law. Because our laws, sometimes are very stupid and ignorant, because we are stupid and ignorant. But they may not pay the price of our stupidity and ignorance.
They object to the fact that they
were either not informed or misinformed about their
condition, they are still unable to obtain accurate information
about their condition and treatment, and they feel
stigmatized and shamed by the secrecy surrounding their
condition and its management. Many also attribute poor
sexual function to damaging genital surgery and repeated
and insensitive genital examinations, both of which were
performed without their consent.
Those are a mix up of feelings, between the victims and their families.
Finally, social constructionists have challenged the entire
enterprise of medical management of intersex cases by
arguing that medical practices are rooted in history,
language, politics, and culture, and therefore are not
universal scientific facts.10 Thus, the ‘‘correction’’ of an
intersexed infant’s genitals is less a medical emergency than
it is the adoption of medical technology to support a cultural
imperative to view the sexes as dichotomous. Supporters of
this point of view contend that such beliefs result in
unnecessary and damaging surgery.
I don’t agree with their ideologic points of view, but I agree with the results. Wait the child manifestation. Assign a “preliminary” sex, a social rearing in one sex, in a very androgynous and light way… the child need to show who he/she is, and if we respect and love and permit it, it will happen…. Because the brain is there…. And it will show the inner reality. Only after a free and express solicitation of the child, I think , a “final sex” may be defined, including genitally. And improve your surgeries, please! To live without erotic and sensual possibilities, surely is too hard! Respect the autonomy of the victims!
How should a decision regarding sex assignment be
reached in the present case? Until recently, most children
with aphallia would receive a female sex assignment.
That surely is the worse decision possible. Why? Because possibly the brain had not the same genital problems, we are not sure.
What I suggest to do today in that aphallia situation?
Possibly the brain is male. Start rearing, in a light way, as a male. And wait. One day, if we know how to observe the child really, not in front of others, but when alone (the gender dysphoric lives all the time hiding from others – based in that characteristic I propose the development of Gendercare Game-Tests for diagnosis of dysphoria in little children). Playing our game, the child feel alone, and show itself…and we receive electronically the results, thru the web. So, after time or our test (to gain some years), we may decide who he/she is. And ask them, what they would like to be…etc..
Only after that process, until we have a better brain diagnostic, if we will have one one day, we could, respecting the child as a person, with a life and a future, see if we will adapt a surgery or not (good quality surgeries, please!)
Accordingly, the testicles would be removed and genital
surgery performed to create the outward appearance of
female genitalia, that is, labia and clitoris. Surgical
construction of a vagina might be performed at this time
or be postponed until adolescence. A feminizing puberty
(development of breasts and feminine body) would be
achieved through the administration of estrogen therapy
beginning in the early teenage years. It has been thought that
this approach would maximize the individual’s psychological
adaptation, including gender identity, body image, and
That would be a very dangerous situation for the child. And a lot of times, as a lot of other gender dysphorics, with shame and fear, they never will openly admit their sufferings. I am sure, the most part of the “good” feminization solutions that way, are not real, but is an inner torture for the victim. Ashamed, fearing life, parents, and all, they close in themselves, as the gender dysphorics most part of the time do.
Conversely, delaying or avoiding surgical
construction of female external genitalia would potentially
jeopardize the formation of an unambiguous gender identity
because of the incongruence between gender rearing and
That is not true. That is a Myth. A myth that now need to be reviewed, as soon as possible.
An alternative decision might be to rear
this infant as a male (consistent with his gonadal sex)
because prenatal testosterone has presumably ‘‘organized’’
the brain, foreclosing identification as a female. Phalloplasty
might then be considered, although the challenges of
this option are daunting and it has only rarely been
attempted. The option of not attempting to provide the
child with a phallic structure would potentially jeopardize
stable gender identity formation.
A lot od FtM transsexuals live that reality. They are men, they feel they are men, and live as men, and play male gender roles in society. But don’t have male genitals, because the surgeries are not so surely good, and the good ones are so expensive. BUT SURELY THEY ARE MUCH MORE HAPPY LIVING AS MALES WITH PROBLEMS, THAN AS FEMALES. Because they are males, they always were males.
Given the dearth of systematic information on long-term
outcome in individuals with aphallia and other forms
of intersexuality, how should this clinical problem be
resolved? How are the parents to be involved in the
decision? What information do they need to make informed
First we were too impressed by our points of principle, ideological ones. Then we are impressed by medicine principles. Then, by society, and now respecting too much the families. Surely, dialectically we are improving a little. But THE MOST IMPORTANT WE ARE IGNORING: THE CHILD’S RIGHTS. The child as one whole human being, not the part of a family. That is the main idea: respect the human being, as a child. It is not important what is good for our ideas. Or the Law, or society. Nor the family and parents. What is important is the human being, and the baby is a whole, an human being. Let’s start respecting it. How?
We have a lot to do:
1st: scientifical research of the brains and gender identity, thru fMRI, molecular biology, hormone action and expression, etc.
2nd: start changing social and law principles: Genitals don’t define sex, nor society and role learning. No one learns to be a boy or a girl, but what someone may learn is to play the female or male gender role, society suggest you would live. So we need to start establishing “preliminary sex assignment”, that later, in intersex and transsexual cases, could be reviewed and corrected.
(some decades ago, I was a horse farmer, also. As a hobby, I had Arab horses, very good champions in Brazil, from Egypt lineage. When a foul had birth, we send to the Stud Book, the “preliminary registration”. Here, obviously the problem is not sex, but lineage. More or less 2 to 3 years later, an expert from the Stud Book analyses the stallion or mare, to see if it is a true Arab or not. The horse shows who he is , by his characteristics, measures, etc.. If all is ok, we have the final registration document, if not, that animal is not considered a pure breed Arab. And the preliminary registration is changed, and the animal is a “mixed arab”, or even nothing.)
If the arab horses, as the throughbreed and Andaluzian horses have that right, why not could have that possibility our law to protect our children?
decisions on behalf of their child? Rare as this case is, it has
much to teach us. Questions emerge regardless of whether
the infant is assigned a gender and reared as a boy or as a
girl. (We acknowledge Dr. Sheri Berenbaum’s constructive
comments on a draft of this commentary.)
David E. Sandberg, PH.D.
Pediatric Psychiatry and Psychology
Children’s Hospital of Buffalo
Tom Mazur, Psy.D.
Children’s Hospital of Buffalo
Buffalo, New York
1. Grumbach M, Conte FA. Disorders of sex differentiation. In: Wilson
JD, Foster D, eds. Williams Textbook of Endocrinology. 9th ed.
Philadelphia, PA: WB Saunders; 1998:1303– 1425.
2. Melton L. New perspectives on the management of intersex. Lancet.
3. Money J. Sex Errors of the Body and Related Syndromes. Baltimore,
MD: Paul H. Brookes Publishing Co.; 1994.
4. Zucker K. Intersexuality and gender identity differentiation. Annu
Rev Sex Res. 1999;10:1– 69.
5. Colapinto J. As Nature Made Him. New York, NY: HarperCollins
6. Diamond M, Sigmundson HK. Sex reassignment at birth. Long-term
review and clinical implications. Arch Pediatr Adolesc Med. 1997;
7. Goy RW, McEwen BS. Sexual Differentiation of the Brain.
Cambridge, MA: MIT Press; 1980.
8. Collaer MA, Hines M. Human behavioral sex differences: a role for
gonadal hormones during early development? Psychol Bull. 1995;
9. Bradley SJ, Oliver GD, Chernick AB, Zucker KJ. Experiment of
nurture: ablatio penis at 2 months, sex reassignment at 7 months, and
a psychosexual follow-up in young adulthood. Pediatrics.
10. Kessler SJ. Lessons from the Intersexed. New Brunswick, NJ:
Rutgers University Press; 1998.
This case represents one of the most difficult situations
faced by parents and health care professionals involved in
the care of infants born with an intersex condition.
See, all expectation is over health care professionals and family….AND THE VICTIM? The child is not a human being, but only a parent’s property, or a family’s part?
many other conditions that result in undervirilization of a
genetic male, the 46, XY infant with isolated aphallia was
presumably exposed to normal levels of male testosterone
during intrauterine life. A major concern revolves around
the effect of prenatal androgen exposure on ‘‘masculinization’’
of the brain and ultimate gender identity.
If all our body parts and tissues may be female or male, and not only the genitals: why not the brain? The brain masculinization, or not, is a reality for all other primates and all mammals studied…. Are we not mammals? Not animals? Not primates? Are we Jupiter’s idea, or created by the Jewish and Christian God? Or by Allah? Or by the African Yoruba Gods? Or by Brahma, Vishnu and Shiva?
What can we learn from the literature regarding sexassignment
and outcomes in similar cases? Congenital
absence of the penis is extremely rare, with fewer than 100
cases reported. Although female sex-reassignment and early
bilateral orchiectomy historically have been considered
standard-of-care for these patients, follow-up studies focus
primarily on success of surgical procedures rather than
psychosexual development and function.1 In the few case
reports of aphallia in which a male gender was assigned,2
limited information is available regarding psychological
adaptation and long-term satisfaction.
I fear those “long term satisfaction surveys”. Money manipulated all the time the “long term satisfaction” of David Reimer. That tendency was not Money’s but is human, our tendency. Our ideas ant theories absorb us in a way, that at the minimun possibility we say, it is confirmed! She is a very helpful female!
But a lot of times, men think their women were also very happy, until the day they flew with the neighbor, or ask for divorce. And vice versa.
So, I don’t believe really in those “studies”, mainly because I know how a gender dysphoric may hide the reality, for dozens of years, and sometimes for life.
Another strategy is to
attempt to extrapolate from similar populations of 46, XY
patients with apparently normal early prenatal testicular
function, such as those with micropenis or traumatic penile
loss. Although there are reports of normal male gender
identity and fulfilling heterosexual activity in such patients,3
female gender role and satisfaction with sex-of-rearing have
also been reported in a small number of individuals.4
Truly, very small amount….and please, remember Imperato MacGinleys data from Costa Rica!
A few sensationalized cases of extreme gender dysphoria
and patient groups advocating a moratorium on early
genital surgery have encouraged the medical community to
recognize the critical need for long-term outcome data on
For her they were sensationalized, because she was not among them. That sort of disrespect, today, is no more acceptable, please!
However, the few existing studies of
the claims made by intersex support groups have been
limited by small sample size and selection bias.5
Here she shows her ideological bias.
we find ourselves currently in a situation with far more
questions than answers. How, then, should we begin to
address this challenging case?
Once the medical diagnosis has been established, parents
of an infant with intersex should be given a comprehensive
and explicit explanation of normal and abnormal sexual
differentiation. Considering the paucity of scientifically
validated outcome data in the management of intersex, all
available information should be shared, including that which
has been highly publicized and is arguably biased. A
consistent source of dissatisfaction among adult intersexuals,
even among those for whom the psychosexual outcome
appears favorable, has been the lack of disclosure by
medical professionals (and often parents) regarding their
diagnosis and treatment. The perceived secrecy can be
experienced as shame. The ideal time at which to establish a
culture of full disclosure is in the initial discussions with
parents. At that time, information should be provided about
the diagnosis and options regarding sex assignment and
surgery. Surgical options for this challenging case include
the technically difficult phalloplasty6 or the easier vaginoplasty.
7–8 Each procedure is associated with short- and longterm
complications. All options should be considered in the
case of the infant with aphallia. If the child is reared male,
there is the potential for endogenous steroidogenesis and
fertility, whereas if the child is reared female, hypogonadism
and infertility are guaranteed.
A third option promoted by patient advocacy groups
would be to rear the child as either a boy or as a girl, but
defer gonadectomy and genital surgery until the child can
independently provide informed consent.9 However, early
gonadectomy should be considered in cases of a female sex
assignment in light of the postnatal rise of testicular
testosterone that may further masculinize sex-dimorphic
regions of the brain. Gender-validating surgery has long
been considered crucial to the development of uncomplicated
gender identity. However, a widely publicized case
report of a boy with traumatic amputation of the penis
reared as a girl after feminizing genital surgery10 and the
example of physically normal transsexuals who request sex
reassignment illustrate that genital appearance consistent
All her preoccupations are with society and family. For her, the child is more one thing than one person. Truly she is living in the xxth or even the xIxth century, ideologically and ethically.
with rearing gender is not a guarantee against the development
of gender dysphoria later in life.
In light of contemporary controversy, few would hazard
the assertion that there is an absolute ‘‘right’’ or ‘‘wrong’’
answer regarding optimal sex assignment in this case.
Nonetheless, honesty and empathy go far in establishing an
atmosphere of trust within which the parents may become
full participants in the decision-making process. This goal
can be facilitated by the inclusion of a mental health
professional in the clinical care team. Necessary qualifications
of such a team member would be knowledge regarding
the process of physical sexual differentiation and its
disorders, psychosexual development, and the potential
contributions of the social environment and biology to
individual variability. In addition, this team member would
have more general knowledge and experience in caring
for children with congenital health problems and their
immediate and extended families. This behavioral specialist
can provide psychoeducational counseling at the time of
diagnosis to support the objective of fully informed consent
for medical management, including surgical decisions. The
mental health specialist would be available to parents and to
the child to provide on-going support to address inevitable
concerns regarding the correctness of the sex assignment
decision and to provide the parents with the skills to deliver
developmentally appropriate education to the child regarding
his/her condition and treatment. Although not yet
supported by controlled studies, such a comprehensive
clinical care model holds the promise of enhanced quality of
life for the affected individual and his/her family.
Erica Eugster, M.D.
Clinical Associate Professor of Pediatrics
Riley Hospital for Children
1. Hendren WH. The genetic male with absent penis and urethrorectal
communication: experience with 5 patients. J Urol. 1997;157:
2. Ciftci AO, Senocak ME, Buyukpamukcu N. Male gender assignment
in penile agenesis: a case report and review of the literature. J Pediatr
Surg. 1995;30:1358– 1360.
3. Reilly JM, Woodhouse CRJ. Small penis and the male sexual role.
J Urol. 1989;142:569– 572.
4. Wisniewski AB, Migeon CJ, Gearhart JP, Rock JA, Berkovitz GD,
Plotnick LP, Meyer-Bahlburg HF, Money J. Congenital micropenis:
long-term medical, surgical and psychosexual follow-up of individuals
raised male or female. Horm Res. 2001;56:3–11.
5. Dayner J, Witchel SF, Lee PA. Assessing care of intersex patients:
initial survey results. Pediatr Res. 2002;51(pt 2):119A. Abstract.
6. Ochoa B. Trauma of the external genitalia in children: amputation of
the penis and emasculation. J Urol. 1998;160:1116–1119.
7. Creatsas G, Deligeoroglou E, Makrakis E, Kontoravdis A,
Papadimitriou L. Creation of a neovagina following Williams
vaginoplasty and the Creatsas modification in 111 patients with
Mayer-Rokitansky-Kuster-Hauser syndrome. Fertil Steril. 2001;76:
8. Krege S, Walz KH, Hauffa BP, Korner I, Rubben H. Long-term
follow-up of female patients with congenital adrenal hyperplasia from
21-hydroxylase deficiency, with special emphasis on the results of
vaginoplasty. BJU Int. 2000;86:253– 258.
9. Diamond M, Sigmundson HK. Management of intersexuality.
Guidelines for dealing with persons with ambiguous genitalia. Arch
Pediatr Adolesc Med. 1997;151:1046 –1050.
10. Colapinto J. As Nature Made Him. New York, NY: HarperCollins
This case serves as a model for the current debate on the
management of the child with ‘‘ambiguous genitalia’’ or, to
use the term that has acquired wide currency in the last five
years, with intersex. In the 1950s, a management strategy
for children with intersex was formulated that included early
sex assignment with early surgical correction to assure
consonance between the assigned gender and the physical
appearance of the child. To assure gender-appropriate
parenting, parents were often not fully informed of the
child’s condition because it was felt that if the parents had
any doubts about the child’s gender, they might send the
child mixed signals, resulting in an insecure gender
identity.1 With small modifications, this management
strategy remained in place until the mid 1990s and is still
accepted in many centers in the United States and around
In the mid 1990s, social scientists, a number of intersex
activists, and some physicians called for a revision of this
management strategy. The debate focused on management
strategy continues to this date. It has led physicians to be
more open and share more information with patients about
their condition and about the consequences of medical
and/or surgical therapy. However, the focus of management
has remained fixed on determining which medical and/or
surgical interventions will yield an optimal outcome for
each intersex condition. The general feeling is that the
current debate on intersex will be resolved when the
appropriate outcome studies are done and that, when these
data are generated, physicians will, in effect, be able to use
an algorithm to determine a child’s sex of rearing and the
appropriate medical and surgical interventions that the child
will require to make her/him a well-adjusted individual with
a secure gender identity and adequate sexual function.
Although I believe that studies are important and
necessary to establish the efficacy of the various medical,
surgical, and psychological interventions that are used in
the management of the child with intersex, I believe that the
data will yield results that confirm an enormous variability
in how individuals with identical intersex conditions
develop psychologically. Even the limited studies available
(e.g., behavioral characteristics of girls with congenital
adrenal hyperplasia4) point to widely divergent outcomes.
There are conditions, such as complete androgen insensitivity
syndrome, where outcomes are almost universally
predictable. But for most intersex conditions, the psychological
outcome will be so variable that, for each specific
case, the outcome will be unpredictable.
Therefore, the current medical model with its focus on
diagnosis and medical-surgical treatment does not assure the
best possible outcome for children with intersex conditions.
The appropriate care model is one in which the focus is
shifted away from the precise medical diagnosis and towards
the parents’ conception of what their child has, what they
believe their child’s gender to be, and how they see their
child’s future in the context of their family and of society.
Each set of parents, with their unique sociocultural beliefs
and backgrounds, would then make all decisions regarding
the care of their child. These decisions will be unique to each
family and will reflect each family’s unique perspective on
the incredibly complex issues of sex and gender. This task
should be facilitated by health care professionals expert in
the field of family counseling and child development who
are, in addition, familiar with intersex conditions.5
To apply this reasoning to the challenging case, there is
no ‘‘right’’ medical-surgical procedure for the infant with
aphallia. Rather, after informing the family of what is
known and not known about the outcomes of this condition,
the caregiver should explore with the family members their
feelings about what they believe is best for their child and
respect their decision.
In summary, it is my opinion that when all the outcome
data on intersex are collected and analyzed we will discover
that there will be no one answer or management protocol
per intersex condition, but rather many answers, each
unique to a given family.
Dr.Jorge really understand
only ethics for the parent's and family point of view, and never the child's.
I can't agree, in that, with him.
Sorry, Tom, but I am too tired. To write in a foreign language for me is hard, and I am really not so young (to don’t say I am feeling really old!)
Thank you , dear friend.
Let’s believe in science and evidences?
Let’s respect the victims?
Let’s change our philosophical and ideological points of principle?
I wrote two books about that subject, but unfortunately, only in Portuguese. “Domage”!
About that particular aphallia case, as I said, what I would suggest would be:
2. Start preliminary, rearing in a light way, as a boy.
4. Do the Gendercare Game-test with 3-4-5 years old.
6. With 6,7 we hope we could be sure who the child is, and start maintaining the sex of rearing, or not.
7. After necessarily corrections, reassign legally the child.
Jorge Daaboul, M.D.
Assistant Professor of Pediatrics
Division of Pediatric Endocrinology
Department of Pediatrics
University of Florida, College of Medicine
1. Money J. Sex Errors of the Body and Related Syndromes. Baltimore,
MD: Paul Brookes Publishing Co; 1994.
2. Lifshitz F. Pediatric Endocrinology. New York, NY: Marcel Dekker,
3. Sperling M. Pediatric Endocrinology. Philadelphia, PA: W.B.
Saunders Co; 1996:449–450.
4. Meyer-Bahlburg HF. Gender and sexuality in classic congenital
adrenal hyperplasia. Endocrinol Metab Clin North Am. 2001;30:
5. Daaboul J, Frader J. Ethics and the management of the patient
with intersex: a middle way. J Pediatr Endocrinol Metab. 2001;14:
Dr. Martin T. Stein
Children who are born with intersex conditions bring
enormous challenges to the fields of developmental
endocrinology and child development. The commentaries
that accompany this case emphasize contemporary social
and ethical issues that have not always been considered in
the early medical decision-making process. In addition,
cultural differences with regard to the acceptance of intersex
conditions may not conform to those of Western society and
should be taken into consideration.1
The contemporary dialogue on an approach to the child
with an intersex condition is a credit to our colleagues in
pediatric endocrinology who have responded to recent
scientific discoveries (both biological and psychological)
and the concerns of patients and their families. Dr. Robert
Blizzard, in a recent commentary in Pediatrics, wrote:
‘‘There exists a series of conundrums regarding gender
assignment, gender identity, gender role, and sexual
preference that need solving before we can be comfortable
in providing reasonable answers to the questions posed by
parents of intersexed patients and those of the patients
This is an area in which a developmental-behavioral
pediatrician can contribute in significant ways. With an
emphasis on the interactions between biological and
psychosocial aspects of child development, the issues
raised by the birth of a child with an intersex condition
are particularly suitable to the clinical perspectives of a
developmental-behavioral pediatrician. The commentaries
invite an interdisciplinary approach that should be seen as
an opportunity for participation.
1. Kuhnle U, Krohl W. The impact of culture on sex assignment and
gender development in intersex patients. Perspect Biol Med. 2002;
2. Blizzard RM. Intersex issues: a series of continuing conundrums.
Pediatrics. 2002;110:616– 621. Commentary.
Challenging Case 119
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