46 XX DSD- CAH - Surgical corrections- what & when?

Dear All,

This child was born before 3 months by normal vaginal delivery. 
On 10th day of birth diagnosed with salt loosing CAH.
Karyotype: 46XX
USG/ MRI: All female internal genitalia identified and normal. 
Patient receiving medical management under pediatrician. 
Child was referred to pediatric surgeon,  surgeon 's advice is to do phallus reduction and vaginoplsty at the early possible. Child is 3 months at present. 
Now child is referred to me for second opinion on surgical corrections and timing!
I would like to request experts to opine on issues of surgical corrections and timing in severely virilized CAH(Prader 4/5) patient. 
10th day and 3rd month images of external genitalia are posted in 5his thread for review. 
Thanks 

46 XX DSD- CAH - Surgical corrections- what & when?46 XX DSD- CAH - Surgical corrections- what & when?46 XX DSD- CAH - Surgical corrections- what & when?

Comments(12)

  • Dr. Anil Takvani
    Dr. Anil Takvani
    03 Mar 2021 01:26:01 PM

    I am posting discussion on indications of surgery, surgical procedure and timing take from

    Congenital Adrenal Hyperplasia

    , MD, , MD, , DO., , MD, , M.D., , PhD, and , MD.

    The aim of surgical repair in females with ambiguous genitalia caused by CAH, when the decision is made by parents or patients themselves, is generally to remove the redundant erectile tissue, preserve the sexually sensitive glans clitoris, and provide a normal vaginal orifice that functions adequately for menstruation, intromission, and delivery. A medical indication for early surgery other than for sex assignment is recurrent urinary tract infections as a result of pooling of urine in the vagina or urogenital sinus. In the past, it was routine to recommend early corrective surgery for neonates born with ambiguous genitalia. However, in recent years, the implementation of early corrective surgery has become increasingly controversial due to lack of data on long-term functional outcome. Recent data shows that genital sensitivity is impaired in areas where feminizing genital surgery had been done, leading to difficulties in sexual function [1]. Another recent study showed that patients with more severe mutations in the 
    CYP21A2 gene, i.e. those with the null genotype and thus those more severely virilized, had more surgical complications that those less severely virilized and were less satisfied with their sexual life [2]. Because of the scarcity of this data, the role of the parents in sex assignment becomes crucial in all aspects of the decision making process, and should include full discussion of the controversy and all possible therapeutic options for the intersex child, particularly early versus delayed surgery. Further, a multidisciplinary case-by-case approach, involving pediatric endocrinology, urology, genetics, and psychoendrocrinology, is imperative when considering sex assignment and possible surgical repair.
    References:

    1.Crouch NS, Liao LM, Woodhouse CR, Conway GS, Creighton SM. Sexual function and genital sensitivity following feminizing genitoplasty for congenital adrenal hyperplasia. J Urol. 2008 Feb;179(2):634-8. Epub 2007 Dec 21

    2.

    Nordenstrom A, Frisen L, Falhammar H et al. Sexual function and surgical outcome in women with congenital adrenal hyperplasia due to CYP21A2 deficiency : clinical perspective and the patients perception. J Clin Endocrinol Metab 95: 3633-3640, 2010.

  • aditya gupta
    aditya gupta
    03 Mar 2021 09:00:06 PM

    Early vaginoplasty often requires later corrective surgery during puberty or adulthood. In this case as from the photos i would like to think that there is an improvement so i would suggest a later surgical course at or before puberty.. early surgery if recurrent uti, parents wish. 

  • Mallikarjuna Reddy N
    Mallikarjuna Reddy N
    03 Mar 2021 09:04:20 PM

    The timing of surgery is a very debatable topic. It is also controversial that can parents consent now or the child needs to grow up and consent on her own. In India the stigma of ambiguous genitals is much more. it is best to do it in the first month where the tissue planes would be better. The incidence of vaginal stenosis is also higher when done pre pubertal. Post pubertal surgery would be easier as the the tissues would be tougher due to estrogenisation. I would prefer to do a single stage surgery. But the option of doing reduction clitoroplasty and later correction of the urogenital sinus can be planned. 

  • Amilal Bhat
    Amilal Bhat
    04 Mar 2021 08:38:48 AM

    I prefer to do the genitoplasty in same age as for Hypospadias repair 6-18 months with the consent and concelling of parents. Chances of vaginal stenosis is there  that can be dealt in adolescence age.

    Amilal Bhat

  • Luis H. Braga
    Luis H. Braga
    05 Mar 2021 09:16:44 PM

    First of all, it is difficult to make a comment on just 3 photos.

    It is essential to have an evaluation of the internal anatomy and the level of confluence between the urethra and the vagina, especially the distance between the confluence the the bladder neck.

    I always scope these patients prior to surgery to help me delineate the anatomy. We have a very dedicated imaging service and we also do a genitogram, as it allows visualization of the anatomy. You are able to show parents and endocrinologists what needs to be done. Experience radiologists should be there to ensure a proper test is done, preferably with the surgeon present as well. I am always present for those.

    We never recommend any repair on the clitoris in babies with PRADER 1 or 2. Only those 3 or higher are candidates for clitoroplasty. In regards to the vaginoplasty, it will depend on the location of the confluence. In cases where the vagina is very very short and its insertion is close to the bladder neck, postponing the repair is wise. 
    Otherwise, we recommend surgical correction after multidisciplinary discussion and informed consent is obtained from the family.

    We perform feminizing genitoplasty in the first 6 months, if necessary and ASTRA approach can be used to deal with a higher confluence. If the confluence is low (up to 2 cm), we always approach it through the perineum  (lithotomy position).

    advantages of doing this procedure in the young infant are: pelvis is very shallow, no need for extensive dissection to get to the confluence, minimal blood loss, easy of mobilization of the tissues, which are soft and pliable, quick postop recovery, minimal pain. Our patients are discharged within 48 hours with a Foley catheter that we leave in place for 48 hours, as we do not want to have urine leaking in our incision and stitches. 

  • Luis H. Braga
    Luis H. Braga
    05 Mar 2021 09:25:14 PM

    One final remark regarding vaginoplasty.

    Once one finds the vaginal opening, further spatulation of the vagina towards to cervix is necessary to encounter a healthy and wide vaginal canal. Usually 1.5 to 2 cm of an atretic vagina are seen and this segment should not be brought down to the perineum or be anastomosed to a Fortunoff skin flap because it will lead to future vaginal stenosis. This step is key to avoid these long term strictures described in the literature.

    In terms of the technique, we have used PUM to low confluence, and vaginal pull through keeping the UGS as urethra in the cases of high confluence. It has worked well in our hands, we published that in the J Urol in 2006 where we did a prospective study with 24 children that we took to the OR afterwards for a quick sedation and examination of the genitalia to confirm the presence of 2 separate orifices and calibrate the vagina as well, to have it as future reference.

  • Thomas Kolon
    Thomas Kolon
    06 Mar 2021 01:46:13 AM

    All pts with congenital adrenal hyperplasia are first seen by our multispecialty team (urology, endocrinology, genetics, psychology) in conjunction with the family. All pts/parents must meet with the psychologist prior to any reconstruction (and continue afterward). We generally perform reconstruction between 6-18 mos (if stable on steroid replacement) and perform cystoscopy separately in order to better define anatomy and plan repair. For a low confluence we would perform a partial urogenital mobilization (lithotomy) and for a high confluence we use a modified ASTRA approach (prone). Clitoriplasty for Prader 3-5 is performed in lithotomy position. Most pts stay 24 (or perhaps 48) hours. We follow all patients through adolescence.

  • Dr. Anil Takvani
    Dr. Anil Takvani
    06 Mar 2021 01:30:54 PM

    Dear Dr. Amilal, Dr. Luis and Dr. Kolon, 

    Thanks for extremely valuable inputs. 
    I have few questions,  please respond;
    1. What about androgen exposure of brain? Have you seen issues of gender dysphoria in long term follow up in cases operated at very early age?
    2. In patients with high virilization, do you think we need to allow child to grow and allow them to participate in decision making?
    3. Incidence of sexual disatisfaction in long run in patients with clitoroplasty and vaginoplsty done at early age?
    4. Against it if we delay procedures, how bad is social & behavioural issues for parents/patients?
    Thanks 

  • Dr Prashant Mulawkar
    Dr Prashant Mulawkar
    07 Mar 2021 05:41:45 PM

    Dear Anil,

    It is better to involve an endocrinologist in decision making. We have a team of urologist, plastic surgeon, endocrinologist, paediatric surgeon and psychiatrist who sit together, have a meeting , discuss the plan and then involve family in decision making

    Salt losing variant is better managed by endocrinologist than by paediatrician. They do genetic tests to find out where is the enzymatic defect.

    I usually do genitogram in all such cases.

    The issue of androgen exposure of brain and gender dysphoria is not yet resolved completely. There are many factors playing part apart from androgens.

    Same is the issue of allowing the child to grow and take part in decision making.  The last word in this regard is not yet written. But most of us plan surgery around 1 year age.

    Glans preserving clitoroplasty has less chance of sexual dissatisfaction

    An understanding family plays much important role than all caregivers. 

  • Sanjay Pandey
    Sanjay Pandey
    07 Mar 2021 07:47:35 PM

    Good evening , Apologies to have joined the the wonderful new look and robust group so late today eve;                                                Dr Anil, Thanks for this wonderful discussion generated that has grey areas in both teaching and practice But surely is Empowering us  on the eve before International Women's day.

    !. This till now looks  stabilised case  of the severe form of CAH & needs long term support and care.
    2.Managing with correct doses of hormones towards preventing adrenal crisis and progressive visilisation cud be the larger aim of the multidisciplinary team esp the endocrinology colleague
    3. Surgery to correct urethro-vaginal outlet obstruction cud require early intervention if needed for Obstruction /Severe infections after a Genitogram ( Internal imaging being otherwise normal as in this case)
    4.Surgery for the present visible pictures of musculanisation with clitoromegaly could easy wait at an opportune time , which is as ambiguous as the entity( Imprinting on the brain of conditioned actions do happen in early years at thus authorities have proposed early glans-nerve preserving in toddler years or earlier- I have done few recently in toddlers who have had erections as young school girls at all times ... on the same  lines of Brain imprinting and sensitisation; Kids developing feel to touch and proceed.. )
    5.Adolescent and Adult " Treatment seeking " Gender dysphoria have roots of innate , perhaps different lineage of mechanisms and may not be this Intersex/Ambiguous genitalia group cluster as a participant of that pathway. The reviews on Childhood Gender dysphoria  in cases of DSD that was presented at the EPATH 2 years ago in Rome did not yet speak a correlation.
    6.Cosmetic -Genital surgeries towards removing ambiguity by corrections of the kind "Vaginoplasty" at early age !! has had early proponents but has  needs of recorrection and adolsecence and adulthood - only because scars of lumen have not grown to accomodate adulthood, from stenosis  of these short segments created to strictures of few segments at adolescence when the baton is passed to adulthood , the entire vagina in subset of childhood vaginoplasties will need completly new organ creation .Justice Swaminathan's words in the landmark judgement in 2017 in Tamil nadu did ring " the parents need to be made feel that a child born with ambiguous genitalia is not a reason for embarrasment or shame" to handhold them in a complete multidisciplinary care approach where non life threatening surg , could be handholding to combined decision making and taking  corrections of reconstruction to a proper date if possible, with consent and understanding .Brilliant case moves sir. I get to see the adolescent and adult , half done and half redo then only attempting to match the expectations of the needy . Best .

  • Ramesh Babu
    Ramesh Babu
    08 Mar 2021 08:57:22 AM

    Dear Anil


    Thanks for bringing out this discussion on timing of genital surgery in CAH which is the most controversial aspect. Also your pointed questions on gender dysphoria (GID) are valid; Let me add on the second point first.

    1. Please see this metaanalysis https://www.jpurol.com/article/S1477-5131(20)30641-0/fulltext?dgcid=raven_jbs_etoc_email by us. CAH reared females had 4% GID while CAH reared males had significantly higher GID at 15% (p = 0.0056). 
    2. Regarding timing of surgery; there was a judgement and GO in TN which advised all to defer clitoral surgery until they grow up and decide later. (most of the times a proper suppressive steriod does the job of stopping clitoral enlargment). 
    3. Reg vaginoplasty it was permissible if there was a retention (hydro/hematocolpos) - this is in line with latest western concerns and Indian activists concern.

    Thanks again.

    Ramesh Babu


  • Paul Merguerian
    Paul Merguerian
    08 Mar 2021 11:13:39 PM

    At Seattle Children's we follow the same approach that Dr Kolon has mentioned. It is of utmost important to have a multidisciplinary approach to this situation including Urology, Gynecology, Genetics, Psychiatry(psychology), and nursing. We these these patients in our CAH clinic together and have multiple discussions with the family prior to surgery. 

    We too would recommend repair at around 6 months of age and perform clitoroplasty for the higher prader group. Also as other mentioned would recommend cystoscopy and /or genitogram to evaluate confluence and management. Recently we have started to perform genitograms with 3D reconstruction and 3D printing both for parent counselling but also for surgical planning.
    Also, most families should aware that many of these children may require vaginoplasty or vaginal dilation later.
    Finally, this group of patients are different that the other DSD patients. In the US the CAH Cares group view themselves not as DSD patients and therefore in center of excellence this group is seen separately that in our multi disciplinary DSD clinic.
    Unfortunately the literature with adverse outcomes and therefore recommending delayed repair describes patients that have undergone flap vaginoplasties even for high confluence with stricture formation and needing redo vaginoplasties. The more modern techniques creating a wide distal vagina and tension free repairs including the ASTRA approach will improve long term outcomes but we will have to wait several years to evaluate.

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