Surgical procedurnnnnn es in CAH.pptx

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1. Surgical procedures in CAH Presenter; Dr. Daniel Tamirat (PSR 5 ) Moderator; Dr. Belachew Dejene (Associate professor of pediatric surgery)

2. Outline Introduction (DSD) CAH Basics Sex assignment Feminizing genioplasty Follow-up

3. Introduction Congenital condition Def Child development of chromosomal, gonadal and anatomic sex in atypical Controversy Gender assignment and timing of reconstruction

4. Introduction cont. Nomenclature

5. Introduction cont. Sex determination Chromosomal/genetic sex whether an X-bearing sperm or a Y-bearing sperm fertilizes the X-bearing oocyte Gonadal sex Indifferent gonad until week 7 Testes (SRY gene, SOX9 gene, WT gene, FTZ factor 1:SF1 gene) Ovary (absence of SRY gene, DAX1 gene) Phenotypic sex Hormones from gonads Internal ductal structures and external genital appearance

6. Introduction cont. Derivatives of urogenital sinus

7. Introduction cont. Differentiation of the internal and external genitalia

8. Aberrant genital development Variable occurrence; True ambiguous genitalia 1:4500 to 1:5000 Klienfelter sxx , Turner sxx , Hypospadia , UDT excluded ( 1:200/300 Included) Classification

9. 46 xx DSD Majority of neonates with ambiguous genitalia Karyotype: 46 xy (all) Exclusively ovarian tissue in non palpable gonad Cause Excess androgen 95% (CAH) 5% (Maternal androgen exposure)

10. Patients have Normal female Mullerian duct structures Normal regression of wolffian duct Variable degree of virilization Phenotype (mild clitoromegaly- normal male appearance) Prader scale Timing and magnitude of androgen exposure

11. Schematic illustration of the Prader classification

12. Congenital Adrenal Hyperplasia

13. Pathways of steroid biosynthesis

14. Virilization in CAH Inability of the adrenal gland to form cortisol No negative feedback inhibition of ACTH (androgen excess) All precursors above enzymatic defect are shunted into the mineralocorticoid or sex steroid pathway Products have albeit weak glucocorticoid function

15. CAH: 4 types Type 1 Virilized but no salt wasting Gene defect only Z.Fasiculata : cortisol production is blocked Type 2 Classic type,21 OH deficiency; effect on Zona Glomerulosa and Fasiculata Virilized plus salt wasting Type 3 11B hydroxylase deficiency; Less common Virilized plus synthetic block below DOC (Potent mineralocorticoid function) Type 4 Rare form (3B hydroxylase), severe salt wasting, survival is unusual Only type of CAH to occur in both sexes

16. CAH: Diagnosis P/Ex Non palpable gonad, DRE: palpable cervix, Bronzing of skin Lab Baseline Ixs , Karyotype, Elevated 17 hydroxylase, DOC level Imaging US: internal Mullerian structures Genitogram : Variable length of urogenital sinus Endoscopy

17. Treatment All forms of CAH: AR (Genetic counseling) Prenatally; families with hx of CAH Maternal rx with dexamethasone before 10 weeks of gestation can eliminate or improve the degree of fetal virilization Postnatally Cortisol replacement with hydrocortisone If salt wasting: Fludrocortisone Neonatal age; fluid and electrolyte management

18. Gender identity Sex assignment A critical decision with life long impact Preferably a MDT decision Goal Preservation of sextual and reproductive function Appropriate gender appearance with a stable gender identity Psychosexual wellbeing The John/Joan case.

19. Gender assignment 95% CAH: female assignment Why? Controversy Timing

20. Surgical reconstruction Feminizing genitoplasty Consists Management of clitoral enlargement Reconstruction of the UGS, and Labiaplasty Five main goals provide an adequate opening for the vagina into the perineum create a normal-looking, wet introitus fully separate the vagina from the urinary tract remove the phallic erectile tissue while preserving the glans with its innervation, sensation and blood supply avoid urinary tract complications such as infection or incontinence

21. Preop preparation Complete bowel preparation Adequate steroids supplement and biochemical stabilization. Intraop Pan endoscopy; Put Fogarty/foley catheter into the vagina and bladder

22. Management of clitoral enlargement Controversial Total clitorectomy recession of the clitoris, keeping the corpora Kogan’s reduction clitoroplasty removal of the corporal erectile tissue with preservation of the neurovascular bundle to the glans Glans reduction superficially excise the epithelium of the glanular groove, avoiding a scar in the glans tissue Some prefer not to excise the glans in any surface and but to hide it Recently, a nonablative and potentially reversible technique dismembers the corporal bodies while keeping them in the labia major

23. RECONSTRUCTION OF THE UGS UGS abnormalities are a spectrum (Labial fusion to an absent vagina depending on the location of the vaginal confluence in the UGS) Powell described four types: I, labial fusion; II, distal confluence; III, proximal confluence; and IV, absent vagina. Hendren location of the vaginal confluence in the UGS related to the external sphincter (low when distal and high when proximal to the sphincter). Each patient must be individualized

24. Rx Classic rx Low confluence was classically repaired by a flap vaginoplasty Mid to high by a pull-through vaginoplasty Even in the low type, a very aggressive dissection of the posterior vaginal wall, separating it from the rectal wall. Vagina is cut in the midline, rectal finger, bring the vagina out than the skin (prevents growing of hair and stenosis) 8/3/2022 CAH 28

25. High vagina; pull through vaginoplasty Place a Fogarty balloon catheter into the vagina cystoscopically UGS is approached like a bulbous urethra vagina is incised over the balloon and detached from its entry point in the UGS, and the anterior wall carefully dissected off the overlying urinary tract. vaginal walls to reach the perineum Inverted-U cutaneous flap ( Fortunoff ) Preputial flap (Gonzalez), and redundant tissue from the UGS ( Passerini flap). ASTRA is another way of exposure through the perineal approach.

26. Intermediate (IT) UGS TUM never amputate the sinus tissue until the end as it may be used to enlarge the introitus PUM Richard Rink. Regardless of the level of the confluence, he starts with PUM In summay combined principles (pull-through, TUM, and ASTRA) rather than using a single technique.

27. Labioplasty dividing the clitoral hood skin in the midline ( Byars ) sewing the flaps around the clitoris and along the central mucosal strip down to the lateral vaginal walls

28. Postoperative care Keep the perineum dry Urethral catheter for 1 day for low/intermediate UGS and 3 days for high confluence UGS Vaginal tampon for 48-72hrs and dilation after 2 weeks

29. Complications Scarring at the introitus necessitating repeated modification before sexual function Urinary incontinence Long term results Sextual function Psychological health Urinary continence

30. Reference