CMSRU Medical Education Grand Rounds – "Panel on Disorders of Sexual Differentiation"

a student or group of students and we were delighted when Susan Ptolemy nee a member of our charter class came forward about a year and a half ago and initiated this herself and said you know I'd like to organize the Grand Rounds so today's event has been organized by Susan so I'm going to ask her to come up and introduce our speakers so thank you all for coming this morning I appreciate the turnout and I'd like to thank dr. Rob Olli certainly for giving me the opportunity to to speak in front of you all and to organise this panel regarding a topic that I think is really interesting and I think you know has a lot a lot to be discussed and a lot to be debated so I think central to this discussion is audience participation so it's a little bit different than other Grand Rounds where I would really appreciate you people coming forward with their questions and what whatever they'd like to hear the panel to be so on our panel today is dr. Anthony Gannon pediatric endocrinology doctor Suneetha gorilla pediatric urology and dr. Emily Turner cough who specialized in psychology and specifically transgender psychology so these are our panel members today and then there's me fourth-year medical student so our talk today is centering on disorders of sexual differentiation and gender identity specifically there's been a lot of changes to surgical approaches to these patients particularly those who are very virile eyes patients with for example congenital adrenal hyperplasia and traditionally there was surgery that would intervene immediately and now our society is I think a little bit more open to talking about some of the more gray area surrounding this topic and that's kind of what we're presenting on today so when a child is born one of the first questions that you all know is asked is is it a boy or a girl so when a baby is born and that's not quite clear the baby has ambiguous genitalia that causes that's that's an emergency to the parents to the family to the physicians and not just social emergency but also a medical emergency for those patients who are born with severe congenital adrenal hyperplasia they may have metabolic abnormalities like hyponatremia that can be life-threatening in that moment obviously this causes a lot of stress for the family in that moment when the baby is born it's an immensely stressful moment so that necessitates a very well-rounded approach to these families into these patients so not only do you need pediatricians pediatric endocrinologist pediatric urologist psychologist you need a very multidisciplinary team to approach the families and to help guide them through what's a very very difficult time and surgical correction so as I mentioned traditionally this was something that may have been intervened on within a day two days pretty immediate and I think that that is still the case in in many institutions but I I think that like I mentioned society is a bit more willing to talk about this and change approaches or change approach based on individual patients based on what we know now regarding outcomes long-term so obviously our sexuality our gender our genitalia that's you know very core to who we are I think people really define a Maya boy am i a girl and when you were something that's maybe in the middle that's immensely challenging not just as you know for the families but for the children as they grow up how they define themselves so there's a very different approach or there's important approaches at each stage obviously neonatal the diagnosis is crucial because these some of these conditions can be life-threatening based on the metabolic abnormalities and also when the baby leaves the hospital it's important to consider a gender of rearing meaning that if you're not sure there's a highly virulent female are you going to raise this baby as a gender of male or a gender of female and that's important to discuss with the families before the family leaves the hospital so into childhood and adolescence some of these conditions may not actually be diagnosed into childhood for congenital adrenal hyperplasia some of the metabolic abnormalities may not appear until puberty comes around and so it's important to you know diagnosis at that point and also to provide endocrinology goal management and psychological support as the child is becoming an adolescent and young adult as well and also ongoing surgical management may be necessary and you know into adulthood I think it's you know very individually based depending on their their road to adulthood and how how they've you know the therapy that they've received up until adulthood so Nour regarding normal sexual development you all know that chromosomal sex is decided at fertilization so XX or XY and then you have the migration of the primordial germ cells from the yolk sac into the abdomen and the development of gonads either ovaries or testes and then based on unique endocrinology chol pathways you develop either male or female internal and external genitalia and then you have your phenotypic sex so that's you know if you look male or you look female so you may be chromosomal e-mail XY but actually appear to be female for example androgen insensitivity syndrome where these patients appear completely female and it's not until puberty that they've maybe just received a diagnosis so regarding terms and terminology many of you may be familiar with but traditionally in the past some of these patients were referred to as intersex hermaphrodites or pseudo Homer Aphrodite and in hermaphroditism is the term that's coming from the Greek for Hermes and Aphrodite and it really refers to a patient who has completely functional male and female genitalia which is scientifically and clinically inaccurate for these patients and very stigmatizing so there's a movement to no longer use these words leave them in the past and use more clinically and scientifically relevant terms so we overall term these conditions disorders of sexual differentiation and obviously this is this facilitates better communication between healthcare providers and patients so those are some of the terms that historically were used to describe these patients and they've been abandoned for more clinically and scientifically accurate terms describing chromosomal chromosomal conditions and those are some of the terms that are being used more now okay so now we're gonna present our case and discuss so a third year pho is called to the post delivery area to evaluate this newborn child so they're healthy robust voronet term no prenatal abnormalities were detected and the exam is completely normal except for the genitalia and this is the appearance of the genitalia so it's kind of unclear what your you're seeing is there a scrotum is there a phallus it's it's unclear where this child is you know typically right so so are you seeing hypo speediest are you seeing you know a urogenital sinus opening it's it's not it's not quite clear and as you can imagine that would be very very distressing to a parent to see this especially considering prenatally there was no inkling or a notion that this was going to be happening so in our patients case there were no palpable testes and no palpable masses and hyperpigmentation Fults so in the evaluation of this patient you'd want to immediately get a carry type you'd want to get a hormonal evaluation which I'll let our panelists discuss a little bit more and consider any imaging studies that you might like so our karyotype was 46 X X so chromosome ly this is female the patient had an elevated 17 hydroxy progesterone and the ultrasound revealed ovaries in the pelvis and a janitor gram revealed urogenital sinus and vagina with a cervical impression so consider your diagnosis and your best management so that's the case that scares I think every third-year resident or every new attending when they go to the nursery to go check on a delivery the first question the family asks Lex as I mentioned is well what is it is it a boy is it a girl and the answer is I don't know and that's a scary thing um we nice to think of ambiguous genitalia I think of it as as she said a medical emergency and for several reasons for medical dangers there could be adrenal crisis consider the idea of this being torn alone hydroxylase deficiency certainly at in the newborn stage adrenal crisis is not calm and that usually comes in a week or two after but what if this child has stress what if this child is otherwise and Kamra by an infection they could go into a dystonia crisis they could have hypoglycemia with severe with increased risk for brain damage due to very low blood sugars they can have hypopituitarism when I see a case like that the question I have is is that is this a virile eyes female is this a male with hypopituitarism and so there are a lot of things that should be going through my head it's important to emphasize the medical dangers but also psychological dangers this family has been waiting for this baby for around eight or nine months or so you know whether you see it or feel it or not their whole world is it's basically waiting for the words to come out of your mouth and they're looking for peace they're looking for comfort they're looking for reassurance and sometimes I don't know is not the thing that actually I would say almost every time I don't know it's not what they're looking for looking for how to help this family cope while you're trying to get an answer is hard telling them how to be vague to family members because grandma's gonna ask you know why aren't you telling me why are you being evasive how can you help them deal with a very psychologically challenging scenario and wait for the answer to come through it impairs bonding with a new child so for instance if this was a very traumatic delivery or even if it wasn't the idea of this is my baby but my baby's not normal how do you help them come together as a family during that this is a tremendous source of suffering for and so while we are dealing with the medical perspective we're also charged to help them deal with it psychologically to develop a sustainable system for this child a my response to the family in this time is congratulations you have a beautiful baby there are a lot of disorders that may happen during development because the child development is very complicated we're gonna get to the source of this as quickly as possible for you your baby is beautiful now as as Susan was mentioning there are three components of sexual development and they kind of build on each other says I'm a person this from the biological perspective I'm first considering chromosomal sex so chromosomal sex is assigned at fertilization and depends on which sex chromosomes are come together in this child but there are mistakes that can happen so you can have gain or loss or chromosomes during development you can lose an X chromosome you can gain an X chromosome you can have nondisjunction you can have gain or loss of genetic information that can impact the subsequent steps and there may be mosaicism with us chromosomal sex builds on to go nate'll sex gonadal sex is really the identity of the gonad and what type of hormones it's going to make is it going to differentiate into at Estus or is it going to differentiate an ovary this usually occurs around six weeks post conception and it's most heavily influenced by chromosomal sex but it's complicated right if you want to see variable alphabet-soup just look through the development of the gonads there are numerous identified transcription factor mutations which can alter the development of the ovary or the test is into the functioning gonad and really what we what will the net result of this is a different hormonal expression pattern and the hormonal expression pattern of this gonad defines the phenotypic sex assuming all receptors aren't taxed or intact so differentiation and time frame varies between boys and girls again it's largely determined by kernel sex and the pattern of phenotypic sex is determined by dominant hormone actions in the body so in this case we know it's a 46 xx and we know that it has an appearance of a virile eyes female so the question is how do we get there and there are a couple of ways this if you remember this from medical school may give you PTSD but these are the busy the pathway by which we make hormones steroids through both the gonads and the adrenal glands I'd like to emphasize there are three primary products that come from this pathway and you'll see the mineralocorticoids glucocorticoids and androgens well so if we think about the gonad you're going to make sex hormones and the feedback for stimulation of the gonad is going to be the sex hormone and inhibin and other elements that come from the gonad so if you're looking at from the perspective of a virile eyes female um the the real problem we run into here is the adrenal glands when we know that some teen hydroxy progesterone levels elevated are over stimulated and that's because glucocorticoids give negative feedback to the brain if you have no negative feedback from the production of cortisol then what you're going to run into is over stimulation in this entire cascade and if you were to impart a block right here then all you're gonna you're going to get a some cortisol which gonna be humongous production of androgens so in a female who's going as are completely normal you're still gonna have a dominant androgen tone because of the excessive production of hormone from the adrenal gland now the severity of the phenotype depends on the severity of the mutation so 21 hydrolysis mutations are the most common mutations of all because of the fact that 21 hydroxyl Isis is a gigantic gene that's located right next to a pseudo gene it looks exactly the same so crossing over during cell division is common and so you may have a mutation at one site that gives you almost no troubles or you may have salt wasting your lives female as Susan was mentioning if you have a more mild mutation you may see no problems at all until puberty comes along and then you have someone who has the appearance of polycystic ovarian syndrome with mild hirsutism and menstrual irregularity but you may see premature outer narky you may see severe virile eyes realization and a female it all depends on where the mutation is and we don't have a good way of predicting that beforehand um in this case it's a 46 X X so we expect the 46 X X to result in differentiation of the gonad and two of the by potential going out into an ovary that result in loss of Wolfie instructors so that you have fallopian tubes you should have ovaries you should have normal uterus um so how do we get here so in this case we know there's we have every reason to this child should have realization I'm sorry should have a normal estrogen production should not have realization but clear that we have it the possibilities could be an issue of congenital adrenal hyperplasia you also worry about receptor defects where perhaps there's some other dysfunction in the way that the enzymes are produced and broken down but the questions I see when I think of when I see this child firstly I'm not gonna know the karyotype unless there was a Sofia vanyo synthesis or CVS or some type of genetic sampling done on the child beforehand so I don't know if this is an under V relized male this is a hypo gonna double with with hypopituitarism I don't know if it's someone with some other dysfunction and the activation of testosterone and I also don't know if they'd realize female because 17 hydroxy progesterone won't come back for multiple days so I have to treat it when I think of the diagnostic workup I'm gonna consider getting LH I'm gonna consider getting testosterone might consider getting five tht I'm getting at chromosomes for sure thankfully already know that here I can ask for a stat 17 hydroxy progesterone which esoterics will run in just a few days if we identify it's a medical emergency otherwise that may take up to a week sometimes and that's really too long for families that they're wondering in this case I'm gonna monitor the child clinically I'm gonna invite the team to check blood sugars so that we don't miss a cold hypoglycemia and we'll watch electrolytes until we know what the chemistry shows in the child all the while my message to the family is you have a beautiful baby and something seems to have gone wrong we're gonna do everything we can to sort this out for you as quickly as possible the newborn findings just to quickly go through this and biggest genitalia in the newborn we can think about if you're less female versus the hypocotyl male and we don't really know that until the lab results come back is that clitoral megalitres at micro penis it's not always evident and then we wanna watch our original crisis later findings can be premature adren are key so if you see premature after our key and a four year old that's kind of weird that's gonna heighten my concern that there could be some type of abnormality in adrenal hormone production in this case if you know there's cream four out of narky and if there any of those in his age groups you'll get a bone age and you'll consider getting 17 hydroxy progesterone to understand and further explore it they could show up in adolescence again with hirsutism and Illumina RIA for kids who have premature outturn Archy and that is the finding which identifies CAH you also want think about the fact they could have secondary central precocious puberty because any exposure to sex hormones may unmask precocious puberty and that may cause the whole LH FSH cascade to begin at a younger age these kids might need suppression of puberty with Lupron or supremum and then as adolescence goes on we think about hirsutism we think about minstrel regularity because of excessive androgen in the system clitoral megali we think about that as a problem for a newborn but if you have CAH that's not just a newborn problem if you don't control that it recurs and that can interfere with sexual function with the excess of antigen you can think of fertility troubles you think of growth issues for kids who have central precocious puberty or excessive antigen production at a young age you're gonna close the growth plates faster so you may have short stature on top of that and again that will be impacted by how well controlled it is and then psychologically this is a continuing problem again there's not a surgery surgery may help at a certain point but if they don't take care of the medical condition then the realization may recur and this obviously can feed into a lot of troubles that are Mike lights will touch on as we have mentioned this is a combined effort and just as dr. Guinan indicated that he's waiting for laboratory results waiting for additional information at that time as part of evaluation of these children a the possibilities for surgical intervention must be considering in certainly the history physical examination imaging and labs are all important when I started my training one of the predominant findings or sources of decision was the size of the phallus I think that the currently the the way that I approach these children is first of all to determine if there are palpable gonads the palpable gonna it's invariably is a testes and that can give us some information if the Garnett's are not palpable that can put us into a different pathways we routinely obtain ultrasounds looking for malaria structures specifically the uterus and of course as taki Gannon mentioned we wait for the chromosomes a fish test can be can yield some results rather quickly a confirmatory karyotype does cause some delay and of course during this time the family waits and we tend to refer to the patient as the baby not as him or her at this point this is an ultrasound showing the presence of a uterus behind the bladder and a genital gram showing the cervical impression and a vagina and a urogenital sinus this is an interesting pathway that has been promoted by David diamond from Boston showing how you can use the presence of gonna see their palpable or not palpable the presence of Eulerian structures the value of the 17 hydroxy progesterone and finally the karyotype to come up with a number of possibilities in the pathway guide us to a certain diagnosis but the diagnosis has to be confirmed individually so when we get involved in this children with this children we consider a number of possible surgical intervention cystoscopy to assess the urogenital sinus the assessment of the gonads is critically important if because that may help decide how are we going to move forward and finally genital reconstruction as Susan mentioned initially many years ago there was say a sense of emergency that the diagnosis had to be given firmly quickly so that the genital reconstruction would follow and many of these children under one genital reconstruction within the first few days of life so that the parents would take a baby home with a the expected genital appearance we have moved away from that and that's something that I don't encourage at all I think that we need to take our time we need to get to know the family in the process we get to know cultural preferences and then we make the right decisions and sometimes the surgery's immediate only for gonadal tissue but usually the genital reconstruction takes more time the gentle reconstruction involves either at some point if there are testes to bring the tests down to the scrotum if they're straight gonads or non concordant go nuts then remove those go nuts to do a hypospadias repair and that's usually done at around six months of age and then finally what is referred to as a feminized Ingenico plasti which traditionally has involved a clitoral plasti and labiaplasty and imagine of plasti one of the things that we all have learned is that in the days when we used to do this operation very early on we had a very small neonate with a very large phallic structure which was a large clitoris due to the excessive androgen production and once that dr. Gannon starts to manage that and the baby starts to gain weight the proportion of the clitoris to the rest of the genitalia becomes less so oftentimes if we wait some time for six months to proceed with our intervention the need to do something more aggressive to the clitoris is less and what we have learned is that the less we do to the clitoris is better we have moved from the times when these children were approached by doing a clitoral rectum to a clitoral reduction and now is referred to as a clitoral recession the goals for surgical reconstruction are three we want to maximize the cosmetic and functional potential of the genitalia and that's urinary sexual and fertility potential the challenge in order to make those decisions is that there's no good control studies to guide us as to which approach is best we want to preserve go nuts that have the potential for fertility if that's possible in this case this is an X X and has full fertility potential so certainly we want to preserve that we also want to preserve those gonads that will of her ganado correction hormonal support to the individual and lastly I think that it's important to recognize that some of these go nuts have malignant potential so on the diagnosis particularly the the patient who has partial androgen insensitivity who has on the senate testes or straight gonna those patients have a very high rate of malignancy and removing those go nuts that may have a malignant potential is important for those of you that are interested in this topic this is an excellent review of the topic by Lee and others on a consensus on what is called intersex conditions published in Pediatrics in 2006 and in that consensus they listed some of the conditions that carry a higher risk of malignant in the gonadal tissue and disorders of the sexual differentiation and as you can see those patients that have cuñado this Genesis with an intra-abdominal tissue scary a very high risk partial androgen insensitivity with non croteau testes also very large syndromic abnormalities Frasier syndrome and Dennis trash also carry very high risk of ganado malignancy and Ghana DECT amis should be offered to those patients regarding a patient here which is a very interesting it's a patient with complete androgen insensitivity and that's a patient who is born with a completely normal female genitalia and it's an XY and it's a androgen and end receptor insensitivity and those patients traditionally have presented at puberty do – I mean area however in those patients who are diagnosed early the point of argument has been when do we remove the go nuts this is going to be raised as a female there shouldn't be any question that this patient should be raised as a female they have normal female external genitalia but they have testes and there's pros and cons to each argument however there is at least one report of a seminoma in a 14 year old patient so the the concept of waiting until puberty has to be taken into account knowing that malignancy is possible this is a patient with partial androgen sensitivity with two palpable gonads this decision was made to proceed with a female sex of rearing in in this situation we have normal-looking testes but they are not concordant with the desired sex appearance of this patient underwent orchiectomy x' a couple of words about feminizing genital plasti again there has been debate as to the early repair or continued observation I think it's important at one at some point if the family selects to proceed with the female role that we do something to normalize the external genitalia delaying formal reconstruction into the pre-pubertal years carries a significant burden I think for the patient and for the family in at least started process where the child appears to be normal from an external genitalia is important for gender role adaptation the disadvantages that have been encountered with this type of surgery have been the potential for damage or loss of clitoral tissue loss of sensation and vaginal stenosis we all accept that every patient who has a vaginoplasty in infancy will need subsequent vaginal surgery in adolescence but sometimes that's just a dilation and hopefully not much more and as dr. ganan well indicated this is a spectrum disorder some patients may need a substantial degree of surgery if the degree of V realization is excessive some patients may not need very much and it's an individual decision and all this has to be presented to the family this diagram shows the desire to preserve the neurovascular structure of the clitoris in all of these patients when I started my career there were reports of having of removing the entire clitoris this fortunately has been abandoned now the many times we don't do any surgery to the clitoris but when the clitoris a successive the approach is mostly to remove the spongy tissue and leave all of the additional tissue surrounding the nerves intact and the concept of a vaginoplasty had been as has been advanced by the rink and others who have proposed mobilizing the urethra and vagina together through the urogenital sinus and that has given a much better symmetrical appearance of the introitus in the female perhaps the most important part of the whole thing is this and doctor Shirokov is going to tell us about it I'm not sure it's the most important part but it is the most sensitive part because you are going to feel what our presenters have talked about that you're dealing you're working with parents who are devastated they've lost their imagined child and you're delivering very difficult information so you have to manage your own anxiety as well as theirs I think the greatest advances we've made is everything that's been presented because in the 60s we know that there was a young man named Ivan David Reimer who was a twin and John money was very excited to be able to do a twin study on a child that was intersexed thinking that it was a very well controlled study and later on John Kohler Pinto wrote a book in tandem with this person who was raised as a girl and ultimately lived a life as a young man and because the surgery was premature and decisions were made without really consulting with the family the physician made the decision and we know now to wait to to address the medical issues the the possibilities of malignancies but then to help the parents accept the child as an or normal healthy baby and to follow them through early childhood and then through adolescence the parents are in shock and you need to be aware of how you deal with your own anxieties because you're delivering very specific medical information as much as you can give them in simple language will make it simpler and easier for them there is a lot of empirical literature that does suggest that waiting is most helpful that the child will tell you by the age of four which direction they're going in because of their own particular preferences in their gender expression and it's a very difficult play to deal with the parent who is struggling with the fact that their baby boy is not the baby boy that they had anticipated or the daughter that they had anticipated they go through the grief cycle which doesn't happen in an orderly fashion and you will in turn be dealing with all of their changing attitudes and feelings and be the recipient of their anger of their grief it's wonderful to have a team like we have here and have somebody on board to help them accept and digest the information I think what we want to remember is that the child's best interest is what we hold first the chair the parents may have a preference and the doctors will inform them you will inform them as to what to do medically in terms of their health but the more we can help them be comfortable with their child as a normal healthy baby the better the outcome will be for the youth as he or she is growing up you also want to think about whether this is the firstborn because it will be hardest for the parents of a firstborn and then there will be questions about how to explain this to family how to explain this to siblings and how to present the child later on in life you're going to need a team who's going to talk with the parents about how to talk with a child about how to speak with the preschool people the first-grade teacher how the child is going to adjust to his or her own genital situation and the movement now is when a child is aware that we sometimes do not wait till after adolescence to help the child identify their gender and make decisions we may choose for androgen blocking procedures to delay adolescence so that there is more time for the child to be clear and have counseling there are psychological standards of care that we all follow that you can make yourself aware of and help the parents understand but it is a dilemma and it is life changing and I am NOT going to speak to more than that but rather field your questions along with the team who has so beautifully presented the medical situation so I know it's early and early for some and not you may not want to ask questions and that's okay because we also have our own questions for the panelists if you do come up with something we'd like to ask there are microphones centrally located and also perfectly located for you but I'll just feel the question to the panel regarding patient autonomy so despite the lack of long-term data to follow these patients and follow outcomes there is increasing data suggesting that some of these patients may have higher prevalence or incidence of gender identity is sort of than than the total population and so some of the most severe alized patients require some of the most aggressive surgical interventions and have some of the most poor outcomes and highest rates of gender identity disorder so in that context how do you approach patient autonomy and how do you manage that with obviously very traumatic situation for the parents and and for the physicians how do you approach trying to share with the family is we know that there was something that went wrong with you have ilysm there's there's more sex form and exposure and that's why we're seeing this phenotype and that's a challenge there are different impacts of that one thing is if you have a genetic female and you expose them to testosterone that may impact brain development your degrees whether there's data to show that girls who works who ever lies maybe more what they call tomboyish maybe I actually follow adults as well and I have some adult CH patients who very much take on more masculine roles and identify themselves as kind of mixed I have a 36 year old woman who was excited to try and get back on treatment for percocet ISM and such but was also saddened because she was no longer as strong as the men around her um so I think that involving the patient in this discussion is very important as time goes on if you look at a lot of the major centers right now there's actually a plan to delay decision making until the more the adolescent phase and even if there's if there's any uncertainty using pew recent medication lexapro Eleanor lupron to try and help them reach a point until they are completely convinced of where they need to be so I think one of the worst things we can do is set them up for a permanent surgical intervention that it can't fix obviously this is a mess we mean at some point what I think we have the luxury of giving them time I work with a lot of adolescents and adults who are transitioning who are on that gender spectrum and trans and making the decision of whether to transition or not it's a very long period of time it's usually a year of therapy before they are here if they are here and there are a lot of anxieties about it I know that we mentioned that even in childhood there's some dilation that we can do to help to follow the directives that you have present with depression and anxiety patients I've seen have had psychiatric hospitalizations what I do find is that there is no therapy experience and that I would say 85% of the patients that I work with prior to surgery there is rarely rarely do I see regret more often than not I feel why did I wait so long and the reason they insurance does not cover this unless you are working for a wonderful institution like Apple so I don't rule out patients who are depressed and and estrogen enters their system and they feel alive for the first time which is a whole other intervention and it's not what we're addressing huge today but it is a lifelong proposition individuals who pass transitioning across the gender divide and live their lives as a man and man or a woman there's a whole younger generation now who identify as we're who prefer not to say whether they are men or women the transition from female to male is much easier there are more petite man but I will share a story with you that I went my accountant passed away and Counting I went to him he was a portly guy with a full blog beard and the tie assumes we talked for 20 minutes and he said Emily you don't know me do you I said yes of course your Wally and he said I am Amy you knew me 20 years ago we went fishing together so the transition from male to female is a much smoother verse because if we allow males to go through there the process of secondary characteristic sexual characteristics their bone structure their facial structure has evolved to the point where they need a lot more surgery and a lot more intervention and they don't pass as easily so it's something to consider we're talking about tiny little babies who are going to become adults and wonderful lives so as long as we're taking care of their health and preventing against malignancies I'm not aware of data to compare before and after but I'll tell you that even with the high quality what are some work we have in the last year there's been several very surprising cases even people who had a lot of maternal-fetal medicine involvement I think of one boy who was they already picked out the female name for the only who they had anything wrong was a prenatal genetic study where they were looking at mom serum and they found some strange Y chromosomes mixed in there but they were convinced that this little baby was a girl it was a micropenis and it was a DSD child it was a child of X X X Y mosaic so I think that from my perspective I think it's always helpful and we may find some cases that are in between I don't know being able confirm that that's good like my name is Mike Chan scam chair of emergency medicine here Emily I really appreciate your comments that gender identity in the emergency department is a much more profound topic than ambiguous genitalia in the nursery and the obvious multidisciplinary approach of endocrine and urology what we really struggle with is the lack of family support depression the education of our residents and faculty and the approach to patients who want to be gender or identified in a specific manner there's obviously a profound increase in suicide in these patients and there seems to be really an epidemic more of patients who are identifying themselves gender was different than they're trying to tell you this first really hit me about 25 years ago and I took care of a very well-known employee at Cooper who was a very attractive woman who had severe back pain and medically needed a rectal exam and she said to me doc I gotta warn you you're gonna find something that you're not expecting and I had no idea how to deal with that and I think what I'd really like to ask the panel suggestions or you know this is a medical school how we educate our frontline providers regarding gender and how we educate ourselves and making these patients comfortable the diseases there at high risk for providing them obviously the support they need if they don't have family support and referring them to avenues of addressing their their psychological needs and also their perhaps surgical needs in the future many of these patients that parents have you know disbanded them they're living with friends I just took care of someone just last week and a self-identified male whose complaint was really tons of psychosomatic stuff related mother in jail and father abandoned and drug abuse and I mean it was it was really gut-wrenching was a really lovely young person but we as emergency physician certainly as pediatricians as internists you know we need a lot of education and in dealing with with these patients and I wonder if you could comment on that or what what your you've seen in the medical community to reorganize there to find to develop relationships and understand their relation but in terms of being sensitive don't go always is my first intervention would be to have your intake papers not have any question as to whether it's a male or a female just have a line with gender and let them write in what their gender is that's the first welcome they are just as we've we've changed and takes forms to who is your partner as opposed to spouse's it's as simple as that but reassure people when they come in when they tell you I have a surprise for you that many of these people also promise sexual abuse histories so we need to be very very sensitive with internals any kind of genital examination because it's going to trigger the trauma the answer your question it will be a shock for everybody the first time I have found that my patients have a great experience with the doctors very often the nurses are taken aback because they haven't been educated by this and more education as the um if I should have a freak with more thing I would not consider this very different for inversely preparing ourselves for our patients the meaning that they cut themselves or admitting that they take there's drugs and we don't say oh my good you don't jump back when they say well I did cocaine last night and that's one of these things together in that way but just say emotionally we should get prepared whatever they bring in to show compassion to them I think these people are used to being judged I think people who have disorders with sex hormones there's a lot of concern for depression there's a lot of negative experiences they've had before and I think that if we our job is to be ambassadors of peace to them to be empathic to them and this is an opportunity to do that too so I think that the way that we guard ourselves when they share information that might be otherwise shocking in other avenues we should emotionally prepare ourselves to just acknowledge whatever they gonna tell us with compassion so actual numbers I think we need good studies I know in San Francisco and other places they're putting together big centers where all the patients who have transgender concerns are being put together and they can actually study them more appropriately as far as giving you actual percentages from how well we did you know how many 46 xx paralyzed females went on to go on for each pathway I don't have great data to pop my head to share with you I think would be valid what was the second question again guys you know one of the one of the areas that we had talked about prior to the presentation this morning was that same issue about imprinting and I think that Emily had you know this concept nurture versus nature in the study by money and others what we know is that the patient with co-equal extra food that are converted to the female role many of those struggles and they seem to struggle more than the patients that had congenital adrenal hyperplasia that are converted that are maintained as a female so the presence of testosterone in that situation seems to be a bigger problem what else is the problem is hard to tell we I think that is one factor what we learned from the information from money and others is that just putting the patient was exposed to this dosterone in a pink room is not sufficient there are other elements and I think that conversations evaluation of that patient allowing for variants is very very important Emily I'm sure you have other thoughts no nation is keeping no country is keeping track in the same way nobody's divining happiness well-being success post-transition in the same place nature versus nurture you can raise somebody in print in any way you choose I truly believe that something happens in the bathing of the brain in utero that determines what the gender is separate and aside from all that we're talking about and that was not encouraged to later straightness you

1 comment

  1. This was a great panel — thank you. @ 00:52:00 — One comment that a family doctor / emergency doctor / surgeon should NEVER take on the role of Psychologist. It is disrespectful to the entire field of Psychology to assume that the doctors listed previously would be able to take a few classes and understand how to handle the psychology of patients. Yes, have compassion, but above all — refer to a counsellor / psychologist as well as advocate they be included in the medical care system: all patients' psychology needs to be respected and not attended to by doctors undereducated in psychology. Thank you.

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