GU Embryology

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GU Embryology

  1. 1. Pediatric Urology <ul><li>Horseshoe Kidney </li></ul><ul><li>Duplication Anomalies </li></ul><ul><li>Ambiguous genitalia </li></ul><ul><li>Hydronephrosis </li></ul><ul><li>UPJ Obstruction </li></ul><ul><li>UTI’s </li></ul><ul><li>Tumors (Wilm’s) </li></ul><ul><li>Reflux </li></ul><ul><li>Bladder extrophy </li></ul><ul><li>Hypospadius </li></ul><ul><li>Patent Urachus </li></ul><ul><li>Painful Scrotum </li></ul><ul><li>Nocturnal Enuresis </li></ul><ul><li>Circumcision </li></ul><ul><li>Cryptorchidism </li></ul><ul><li>Hydrocoeles </li></ul>
  2. 2. GU Anomalies <ul><li>Abnormal renal/ureteric development </li></ul><ul><li>Abnormal bladder/urethral development </li></ul><ul><li>Abnormal testicular development </li></ul>
  3. 3. 28 days
  4. 4. Abnormalities of renal development <ul><li>Anomalies of volume and structure </li></ul><ul><li>Anomalies of number </li></ul><ul><li>Anomalies of form and fusion </li></ul><ul><li>Anomalies of ascent </li></ul><ul><li>Anomalies of rotation </li></ul>
  5. 5. Renal agenesis <ul><li>Bilateral </li></ul><ul><li>Unilateral </li></ul>
  6. 6. Renal agenesis <ul><li>Bilateral </li></ul><ul><ul><li>Pulmonary hypoplasia-oligohydramnios </li></ul></ul><ul><ul><li>Facial changes “Potter’s facies” </li></ul></ul><ul><ul><li>Limb anomalies </li></ul></ul><ul><li>Unilateral </li></ul><ul><ul><li>1 in 1100 births </li></ul></ul><ul><ul><li>Abnormality of ureteral bud rather than metanephros </li></ul></ul><ul><ul><li>Unilateral adrenal present, abnormality of other mesonephic duct structures (vas deferens) </li></ul></ul>
  7. 7. Anomalies of Form and Fusion <ul><li>Horseshoe kidney is most common fusion anomaly </li></ul><ul><li>4-6 th week gestation </li></ul><ul><li>1 in 400 </li></ul><ul><li>Ureter, kidney tend to be normal </li></ul>
  8. 8. Horseshoe Kidney <ul><li>Common to have other congenital anomalies </li></ul>
  9. 9. Horseshoe Kidney <ul><li>Common to have other congenital anomalies </li></ul><ul><ul><li>Skeletal, cardiovascular, neural tube defects, anorectal </li></ul></ul><ul><ul><li>UPJ obstruction, stones, UTI, hypospadius, cryptorchidism </li></ul></ul><ul><ul><li>? higher chance of renal cancer (Wilm’s) </li></ul></ul>
  10. 10. Multicystic Dysplastic Kidney <ul><li>Most common type of renal cystic disease </li></ul><ul><li>Most common cause of abdominal mass in an infant </li></ul><ul><li>Bunch of grapes </li></ul><ul><li>No functioning renal tissue </li></ul><ul><li>Atretic ureter </li></ul>
  11. 11. Multicystic Dysplastic Kidney <ul><li>Tend to involute through childhood </li></ul><ul><li>Higher rate of contralateral renal anomalies </li></ul><ul><ul><li>UPJO, vesico-ureteric reflux </li></ul></ul><ul><li>Slight but definite risk of Wilm’s tumor </li></ul>
  12. 12. Antenatal Hydronephrosis <ul><li>~ 0.5-1.0% of antenatal ultrasounds will detect a genitourinary anomaly </li></ul>
  13. 13. Antenatal Hydronephrosis <ul><li>Differential diagnosis </li></ul><ul><ul><li>UPJ obstruction </li></ul></ul><ul><ul><li>Vesico-ureteric reflux </li></ul></ul><ul><ul><li>MCDK </li></ul></ul><ul><ul><li>Posterior urethral valves </li></ul></ul><ul><ul><li>UVJ obstruction </li></ul></ul><ul><ul><li>Primary megaureter </li></ul></ul><ul><ul><li>Ectopic ureter </li></ul></ul><ul><ul><li>Transient hydronephrosis </li></ul></ul>
  14. 14. Antenatal Hydronephrosis: UPJ Obstruction <ul><li>UPJO represents a relative narrowing of the proximal ureter impeding drainage </li></ul><ul><li>Pain, hematuria, UTI or a flank mass in a child or young adult </li></ul><ul><li>~ 1/3 kidneys deteriorate and/or develop complications which require surgery </li></ul>
  15. 16. UPJO Treatment <ul><li>Surgery if pain, infection or affecting function of the kidney </li></ul><ul><ul><li>Open, laparoscopic, percutaneous </li></ul></ul>
  16. 17. Primary Vesicoureteric Reflux <ul><li>A congenital, abnormal retrograde flow of urine from bladder to ureter +/‑ kidney </li></ul><ul><li>Results from inadequate length of submucosal ureteric tunnel </li></ul>
  17. 19. Pediatric Urinary Tract Infections <ul><li>3% girls, 1% boys UTI </li></ul><ul><li>30-40% of children with UTI's have vesicoureteric reflux (VUR) </li></ul><ul><li>~17% infection-related renal scarring </li></ul><ul><li>10-20% with scarring will become hypertensive </li></ul>
  18. 20. Duplication/Ectopic Anomalies
  19. 22. Ectopic ureter <ul><li>Can empty anywhere into Wolfian (mesonephric) duct </li></ul><ul><ul><li>Prostate, seminal vesical, posterior urethra </li></ul></ul><ul><ul><li>Epoophoron, Gartner’s duct, vagina, cervix </li></ul></ul><ul><li>Can cause obstruction of kidney, UTI </li></ul><ul><li>Incontinence in girls </li></ul>
  20. 23. Ureterocoele <ul><li>Cystic dilation of the terminal ureter </li></ul><ul><li>? Persistence of Chwalle’s membrane (37 days gestation) between ureteric bud and urogenital sinus </li></ul><ul><li>Often associated with a duplicated collecting system </li></ul>
  21. 24. Duplication <ul><li>1 in 125 </li></ul><ul><li>Bifid pelvis to complete duplication </li></ul>
  22. 25. Duplication <ul><li>Weigert Meyer law </li></ul>
  23. 26. Duplication <ul><li>Weigert Meyer law </li></ul><ul><ul><li>Lower pole ureter empties into the bladder superiorly and laterally </li></ul></ul><ul><ul><ul><li>Associated with reflux </li></ul></ul></ul><ul><ul><li>Upper pole ureter empties into the bladder inferiorly and medially </li></ul></ul><ul><ul><ul><li>Associated with obstruction </li></ul></ul></ul>
  24. 28. Anomalies of the bladder and urethra
  25. 29. Posterior urethral valves
  26. 30. Posterior urethral valves <ul><li>Variable presentation </li></ul><ul><li>Renal failure, reflux, bladder dysfunction, UTI </li></ul><ul><li>Treatment </li></ul><ul><ul><li>Incision of valves </li></ul></ul><ul><ul><li>Manage secondary problems </li></ul></ul>
  27. 31. Cryptorchidism <ul><li>3.5% of full-term boys </li></ul><ul><li>0.7% of one year olds </li></ul><ul><li>0.7% of adults </li></ul><ul><li>More common in pre-term babies </li></ul>
  28. 33. Multiple Possible Sites <ul><li>Emergent at external ring 70% </li></ul><ul><li>Intracanalicular 20% </li></ul><ul><li>Intraabdominal 5% </li></ul><ul><li>Absent 5% </li></ul>
  29. 34. Why Fix It? <ul><li>Histologic changes present by 1 year old </li></ul><ul><li>Allows surveillance for malignancy </li></ul><ul><li>Less prone to trauma </li></ul><ul><li>May enhance fertility potential </li></ul><ul><li>Fix associated hernia </li></ul><ul><li>Cosmesis </li></ul>
  30. 35. Cryptorchidism & Malignancy <ul><li>10x more frequent than in normal testes </li></ul><ul><li>Approximately 1% life time risk </li></ul><ul><li>The higher the testicle, the greater the risk </li></ul><ul><li>Seminoma most common tumor </li></ul><ul><li>Orchidopexy probably doesn't reduce risk but allows surveillance </li></ul>
  31. 36. Hypospadius and Epispadius <ul><li>Hypospadius </li></ul><ul><ul><li>1:300 boys </li></ul></ul><ul><ul><li>Abnormally proximal ventral urethral meatus </li></ul></ul><ul><ul><li>Deficient foreskin ventrally </li></ul></ul><ul><ul><li>Ventral bend to penis (chordee) </li></ul></ul><ul><ul><li>Otherwise normally virilized male babies </li></ul></ul><ul><ul><li>Vast majority not associated with some other endocrinopathy or GU anomaly </li></ul></ul>
  32. 38. Hypospadius Repair <ul><li>Usually at 1 year of age + </li></ul><ul><li>Many techniques </li></ul><ul><li>Flaps…tubularized foreskin flaps, local skin </li></ul><ul><li>Grafts…bladder mucosal, buccal mucosal, skin grafts </li></ul>
  33. 39. Abnormalities of sexual differentiation <ul><li>Establishment of chromosomal sex at fertilization </li></ul><ul><li>Development of gonads into testes or ovary </li></ul><ul><li>Differentiation of internal ducts/external genitalia </li></ul><ul><ul><li>~ 6 weeks bi-potential of gonadal ridge, gonads, internal ducts and external genitalia </li></ul></ul>
  34. 41. Ambiguous Genitalia <ul><li>Male pseudohermaphroditism </li></ul><ul><li>Female pseudohermaphroditism </li></ul><ul><li>True hermaphroditism </li></ul><ul><li>Mixed gonadal dysgenesis </li></ul>
  35. 42. Ambiguous Genitalia <ul><li>Male pseudohermaphroditism </li></ul><ul><ul><li>XY, various degrees of feminization </li></ul></ul><ul><ul><li>Disorders of testosterone synthesis </li></ul></ul><ul><ul><li>Deficiency of 5-alpha reductase (low DHT) </li></ul></ul><ul><ul><li>Androgen receptor insensitivity </li></ul></ul><ul><ul><ul><li>Partial </li></ul></ul></ul><ul><ul><ul><li>Complete (testicular feminization) </li></ul></ul></ul>
  36. 43. Ambiguous Genitalia <ul><li>Female Pseudohermaphroditism </li></ul><ul><ul><li>Exogenous androgens in pregnancy </li></ul></ul><ul><ul><li>Congenital adrenal hyperplasia </li></ul></ul><ul><ul><ul><li>21 hydroxylase deficiency (most common) </li></ul></ul></ul><ul><ul><ul><li>Virilization </li></ul></ul></ul><ul><ul><ul><li>Salt wasting (low steroid hormones) </li></ul></ul></ul>
  37. 45. True hermaphroditism <ul><li>Have both testicular tissue with seminiferous tubules and ovarian tissue with follicles </li></ul><ul><li>Often 2 ovotestes </li></ul><ul><li>Variable internal ducts and external genitalia </li></ul>
  38. 46. Mixed Gonadal Dysgenesis <ul><li>45XO, 46XY mosaic </li></ul><ul><li>Undescended testicle </li></ul><ul><li>Streak gonad contralaterally </li></ul><ul><li>Some Mullerian duct remnants </li></ul><ul><li>Incomplete virilization </li></ul>
  39. 47. Wilms' Tumour <ul><li>A malignant childhood renal tumor arising from renal blastema containing various stages of normal renal development histologically. </li></ul><ul><li>Most common solid abdominal tumor of childhood. </li></ul>
  40. 48. Wilms' Tumour <ul><li>Peak incidence between 2-5 years of age </li></ul><ul><li>Incidence 8/million </li></ul><ul><ul><li>~ 40 cases per year in Canada </li></ul></ul>
  41. 50. Wilms' Tumour <ul><li>Heritable (15‑20%) and non-heritable forms </li></ul><ul><li>Unique association with other anomalies: </li></ul><ul><ul><li>Cryptorchidism 30/1000 </li></ul></ul><ul><ul><li>Renal anomalies 26/1000 </li></ul></ul><ul><ul><li>Hemi‑hypertrophy 25/1000 </li></ul></ul><ul><ul><li>Aniridia 8/1000 </li></ul></ul><ul><ul><li>Hypospadias, 18/1000 </li></ul></ul>
  42. 51. Treatment <ul><li>General approach is surgical excision (nephrectomy) followed by multi-agent chemotherapy +/- radiotherapy </li></ul><ul><li>Prognosis based on stage and pathological subtype </li></ul><ul><li>More than 85% cure rate with current multi-modal therapy </li></ul>

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