1. PLENARY DISCUSSION By : 26 D 1st SCENE Ambi Didn’t Want To Go To School

2. Members : Yulia Efni Melly Anggriani Lubis Akbar Benitya Hanifah Arani Aiwi Japanesa Septriana Putri Riri Agsari Fauzul Nurul Azmi Ade Satria Apriadi

3. SCENE When implementing guidance to medical students, the doctor on duty at Dr. M. Djamil hospital examines and discusses Ambi who was referred from the clinic with undescended left testicle and ambiguous genitalial. The current seven-year-old patient, the parents are confused about their gender when they will make a birth certificate. At new birth, doctor clinic recommends not to determine the sex before clear. Historically, Ambi born spontaneously with 3500 grams, no other problems since born. Currently, mother nurturing ambi as a boy and his son did not want to, feel ashamed to squat when pissing. On physical examination, Ambi looked healthy, no other dysmorphic looked, same body size with children the same age, vital signs within normal limits.

4. In the urogenital region seen the scrotum bifidum, mikrofalus, chordae, and hipospadia. Palpable right scrotal gonad with 2 mL volume, and empty in left scrotal. As an initial measure, the doctor explained to the mother about the plans for chromosome analysis, genitography, the possibility of sex rearing and reconstruction surgery. Once finished serving patients, physicians also a precept that asks students: as a primary care doctor how they explain to the parents about the possible diagnose and management will be done to Ambi. How do you explain what happened to Ambi?

5. TERMINOLOGY 1.Ambigous genitalial : external genitalial couldn’t be determined yet soon after birth. 2.Undescended testicle sinistra : Left testicle didn’t down to scrotum 3.Scrotum bifidum : Scrotum has separated into two parts because right and left scrotum didn’t fuse. 4.Microphalus : Penis size smaller 2,5 cm SD. It’s due to decrease of androgen.

6. Terminology...... 5.Chordae : Bending of the penis toward the ventral position because the connective tissue on the dorsal is too much. 6.Hipospadia : External urethral meatus isn’t in the end of the penis gland. 7.Genitografi : Radiological examination to see the internal genitalial. 8.Sex rearing : Directing process to a specific sex by the doctors

7. Indentify the Problem 1.Why did the confusion of Ambi’s parents just happened when their child has been 7 years old? 2.Why did undescended testicle happen? 3.Why didn’t the doctor determine the sex of Ambi when this kid just born? 4.Why did ambigous genitalial happen? 5.How’s the interpretation of the physical examination 6.Why didn’t ambigous genitalial affect to the loabor and Ambi still born spontaneously?

8. Indentify the problem.... 7.Why did scrotum bifidum, microphalus, chordae and hipospadia happen? 8.How’s the interpretation of Ambi’s scrotum examination 9.Why do the chromosomal analysis and genitography needs to be done? And how to do it? 10.How to do sex rearing? 11.Why do the reconstruction surgery needs to be done?

9. Indentify the problem.... 12.What happen if Ambi doesn’t treated? 13.What are the other congenital genitalial disorders that you know?

10. Analyze the Problem 1.Because it needs to make the identity and Ambi started to be shame to his friends. 2.Theories: a.Abnormality of testicle gubernaculum b.Abnormality of cremaster muscle c.Unsensitivity of testicle to the gonadotrophin stimulus 3.Because in common cases, testicle will be coming down in 1 year. 4.Hormonal imbalance when Ambi’s mother pregnant. It’s also do to genetical mutation of autosomal and gonosomal chromosom.

11. Analyze the problem.... 5.Physical examination result was normal but in the urogenital region. 6.Ambigous genitalil didn’t affect to development of another organ and the labor. 7.Embriological problem when the mother prenant. 8.Microphalus : maybe the development and deferentiation of the penis is not good Chaodae : Connective tissue in dorsum penis is abnormal

12. Analyze the problem.... 9.Chomosom analysis : to determine the exact chromosom of Ambi Genitography : To identify internal genitalial of Ambi 10.Sex rearing : Directing process to a specific sex by the doctors 11.To give the exact external genitalial for Abi based on chromosomal analysis, internal genitalial and other consideration

13. Analyze the problem.... 12. He’ll be shame of his condition and the undescended testicle has high possibility to be malignancy 13.Torsio testicle : sexual dysfunction Infertility : psychological problem

14. Scheme RefferalTreatmentComplication Diagnose Additional Examination Physical Examination Pathophysiology Anamnesis Classification Etiology Ambi

15. Learning Objective Students can explain about : 1.Embriology of genitourinary system 2.Clasification and epidemiology of genitourinary disorders 3.Etiology and risk factors of genitourinary disorders 4.Pathophysiology of genitourinary disorders 5.Clinical features of genitourinary disorders

16. Learning Objective... 6.Diagnose, physical examination, additional examination, and diffrential diagnose of genitourinary disorders 7.Treatment of genitourinary disorders 8.Complication and prognose of genitourinary disorders 9.Refferal case

17. Development of Male and Female Genitalial System

18. Development of genital system Genetic sex is established at fertilization by the kind of sperm that fertilizes the ovum The gonads begin to attain sexual characteristics from 7th week. Early genital systems in two sexes are similar; this initial period is called indifferent state of sexual development

19. Genital System Gonads (primitive sex glands) Genital ducts External genitalia İndifferent stage

20. Development of gonads (testes and ovaries) The mesothelium (mesodermal epithelium) lining the posterior abdominal wall The underlying mesenchyme (embryonic connective tissue) The primordial germ cells

21. Indifferent gonads During the 5th week a thickened area of mesothelium develops on the medial side of the mesonephros: a pair of gonadal(genital) ridges Finger-like epithelial cords (gonadal cords) grow into the underlying mesenchyme The indifferent gonad now consists of an external cortex and an internal medulla. If the embryo is XX: cortex will differentiate into an ovary, medulla regress If the embryo is XY medulla differentiates into a testis, cortex regress except for vestigial remnants

22. Primordial germ cells Large spherical sex cells are visible early in the 4th week among the endodermal cells of the yolk sac near the origin of the allantois During folding of the embryo dorsal part of the yolksac is incorporated into embryo Thus the primordial germ cells migrate along the dorsal mesentery of the hindgut to the gonadal ridges During 6th week primordial germ cells enter the underlying mesenchyme and are incorporated in the gonadal cords.

23. Sex determination Chromosomal and genetic sex is established at fertilization The type of gonads that develop is determined by the sex chromosome complex of the embryo (XX or XY) Before 7th week gonads of 2 sexes are identical (indifferent gonads) Male phenotype requires Y chromosome (SRY-sex determining region on Y gene) for a testis determining factor-TDF. Female phenotype requires two X chromosomes with a number of genes The Y chromosome has a testis determining effect on the medulla of indifferent cords. TDF (regulated by Y chrom) differentiate the gonadal cords into primordia of seminiferous tubules Absence of a Y chromosome (XX sex chrom) results in the formation of the ovary Types of present gonads determines the type of sexual differentiation of the genital ducts and external genitalia. Testosterone produced by the fetal testes determines maleness. Primary female sexual differentiation does not depend on hormones; occurs even if the ovaries are absent (depending possibly on an autosomal gene)

24. Development of testes TDF induces the gonadal cords (seminiferous cords) to condense and extend into the medulla of the indifferent gonad; where they branch and anastamose to form the rete testis. A dense layer of fibrous CT (tunica albuginea) separates the testis cords from the surface epithelium In the 4th month testis cords become horseshoe shaped; their extremities are continous with those of the rete testis Testis cords are now composed of primitive germ cells and sustentacular cells of Sertoli derived from the surface epithelium of the gland

25. Development of ovaries Gonadal development occurs slowly in female In XX embryo primitive sex cords dissociate into irregular cell clusters containing groups of primitive germ cells in the medullary part of ovary Later they disappear and are replaced by a vascular stroma thet forms the ovarian medulla

28. CONGENITAL – KIDNEY  more frequently than in any other organ  many cause impairment of renal function  association with other renal and extrarenal congenital anomalies AGENESIS  bilateral – extremely rare; children do not survive; prenatal suspicion – oligohydramnios (US)  unilateral – no symptoms; cystoscopy – ureteral ridge absent, no orifice visualized; definitive diagnosis – isotope studies, US, CT HYPOPLASIA  small kidney, smtm dysplastic; the other maybe larger than normal  observed in infants with fetal alcohol syndrome or in utero cocaine exposure

29. CONGENITAL – KIDNEY  differentiation – acquired atrophy (atrophic pyelonephritis, VUR, stenosis of the renal artery)  associated with hypertension  nephrectomy ADULT POLYCYSTIC KIDNEY DISEASE  autosomal dominant hereditary condition; almost always bilateral (95%)  in infants – autosomal recessive disease; short life expectancy  cysts of the liver, spleen and pancreas Etiology & Pathogenesis  defects in the development of the collecting and uriniferous tubules and in the mechanism of their joining  blind secretory tubules connected to functioning glomeruli  cysts enlarge & compress adjacent parenchyma  destroy it by ischemia and occlude normal tubules  progressive functional impairment

30. CONGENITAL – KIDNEY Symptoms  pain (drag on the vascular pedicles by the heavy kidneys, obstruction, infection, hemorrhage into a cyst)  gross or microscopic total hematuria  colic (blood clots or stones)  abdominal mass  infection (chills, fever, renal pain)  renal insufficiency (headache, nausea, vomiting, weakness, loss of weight) Signs  palpable kidneys (nodular, tender if infected)  hypertension ( 60-70%)  fever (pyelonephritis or infected cysts)

31. CONGENITAL – KIDNEY  uremia (anemia, loss of weight) Laboratory  anemia (chronic loss of blood or hematopoietic depression of uremia)  proteinuria and hematuria; pyuria and bacteriuria  progressive  creatinine clearance US – multiple transsonic images, large renal size CT – extremely accurate (95%) for diagnosis – multiple thin-walled cysts filled with fluid, large renal size

32. CONGENITAL – KIDNEY Differential Diagnosis  bilateral hydronephrosis  bilateral renal tumor  von Hippel-Lindau disease (angiomatous cerebellar cyst, angiomatosis of the retina, tumors or cysts of the pancreas, multiple bilateral cysts or adenocarcinomas of both kidneys)  tuberous sclerosis (convulsive seizures, mental retardation, adenoma sebaceum, hamartomatous tumors of the skin, brain, retinas, bones, liver, heart, and kidneys)  simple cyst Complications  pyelonephritis  infection of cysts  severe gross hematuria

33. CONGENITAL – KIDNEY Treatment  General Measures: low-protein diet (0.5-0.75 g/kg/d), fluids (≥ 3 L/d), reasonable physical activity, treatment of uremia (hemodialysis), control of hypertension  Surgery: a large cyst compressing the upper ureter (obstruction and impairment of renal function)  resected or aspirated; renal insufficiency  chronic dialysis or renal transplantation  Treatment of Complications: pyelonephritis; infection of cysts  surgical or percutaneous drainage; severe bleeding  nephrectomy or selective embolization Prognosis  children – very poor  clinical signs and symptoms after age 35-40 – more favorable

35. Failure of one or both of the testes to descend from abdominal cavity to the scrotum

36. Etiology and Pathophysiology Testes usually descend into the scrotal sac during the 7-9 month gestation They may descend anytime up to 6 weeks after birth. Rarely descend after that time. Cause unknown Theories –Inadequate length of spermatic vessels –Lowered testosterone levels

38. Answer: The higher temperatures in the abdomen than in the scrotum results in morphologic changes to the testis – mainly concerned with lower sperm counts at sexual maturity.

39. Assessment Palpate the testes separately between thumb and forefinger, with thumb and forefinger of other hand over the inguinal canal.

40. Therapeutic Interventions Treatment  early (8-12 months)   risk of infertility, malignancy (10-46  ) and testicular torsion  hormonal treatment  induction of testicular descent and stimulation of germ cell maturation and proliferation  hCG  GnRH (Kryptokur) nasal spray 1.2 mg/d,28 d, followed by hCG 1,500 IU/wk, 3 wks  LHRH analog (Buserelin) – nasal spray  early orchidopexy (≤ 1 year)  postpubertal – orchiectomy

42. Hypospadias –Congenital urethral defect in which the uretheral opening is on the lower aspect of the penis and not on the tip.

43. Epispadias –Congenital urethral defect in which the uretheral opening is on the upper aspect of the penis and not on the end

44. Etiology and Pathophysiology Epispadias – rare and often associated with extrophy of bladder. Hypospadias –Occurs from incomplete development of urethra in utero. –Occurs in 1 of 100 male children. Increased risk if father or siblings have defect. –Defect ranges from mild (meatus is just below tip); to meatus on the perineum between scrotum, ventral foreskin lacking –May have accompanying chordee (a fibrous band that causes the penis to curve downward), –Undescended testes – found in conjunction with hypospadias –Might interfere with fertility in the mature male if not corrected.

45. Assessment Usually discovered during Newborn Physical Assessment

46. Why would the nurse question an order to prepare the infant for a circumcision? Ask Yourself?

47. Answer: The nurse would question the order for a circumcision because the foreskin is used in reconstruction and repair of the defect.

48. What is the relation of epispadius or hypospadius to infertility?

49. Answer: If the urethral opening is not at the end of the penis, then the male will not be able to deposit his sperm at the opening of the os of the cervix.

50. Interventions Medical Treatment: –Surgery Reconstructive – repositions uretheral opening at tip of penis Stent placed in urethra to maintain patency Chordee – released and urethra lengthened.

51. The reason for surgery at about 1 year of age is because: a. children will experience less pain b. chordee may be reabsorbed c. the child has not developed body image and castration anxiety d. the repair is easier before toilet training C= answer

53. 1. MULLERIAN AGENISIS Mayer –Rokitansky-Kuster-Huser syndrome Etiology ? Failure of mullerian duct development  absence of the upper vagina, cx & uterus (uterine reminants may be found) The ovaries & fallopian tubes are present Normal 46XX ♀ with normal exrenal genitalia Pt present with 1ry amenorroea 47% have asociared urinary tract anomalies 12% skeletal anomalies Rx  psychological counseling  - vaginoplasty surgical  - vaginoplasty - excision of utrine reminant (if it has functioning endometrium) -vaginal dilators

54. 2. DISORDERS OF LATERAL FUSION OF THE MULL DUCTS Incidence ? 0.1-2% 4% of infertile pt 6-10% recurrent abortion pt Most pt can conceive without difficulty  Incidence of : ◊ recurrent abortions ◊ premature birth ◊ premature birth ◊ fetal loss ◊ fetal loss ◊ fetal malpresentation ◊ fetal malpresentation ◊ C S ◊ C S ◊ cx incompetence ◊ cx incompetence

55. CLINICAL PRESENTATION ♣  ♣ Shortly after menarche  if there is obstruction to uterine blood flow ♣  longitudinal vaginal septum ♣ Difficulty in intercorse  longitudinal vaginal septum ♣ Dysmenorrhea or menorrhagia ♣ Dysmenorrhea or menorrhagia ♣ Abnormality detected on D&C ♣ Abnormality detected on D&C ♣ U/S, laparoscopy or laparotomy ♣ U/S, laparoscopy or laparotomy ♣ Palpable mass ♣ Palpable mass ♣ Complications of pregnancy ♣ Complications of pregnancy ♣ HSG  during infertility or RFL investigations ♣ HSG  during infertility or RFL investigations

56. NON OBSTRUCTIVE MALFORMATIONS OF THE MULLERIANE DUCTS

57. A-Uterus didelphus Complete duplication of uterus, cx & vagina (due to failure of fusion of the two Mull ducts) ?  pregnancy wastage?  pregnancy wastage  HSG or at laparoscopy / laparotomyDx  HSG or at laparoscopy / laparotomy  If affecting pregnancy outcome  surgical correction (metroplasty)Rx  If affecting pregnancy outcome  surgical correction (metroplasty) B-Bicornuate uterus Incomplete fusion of the two Mull ducts  pregnancy wastage  pregnancy wastage  HSG or at laparoscopy / laparotomyDx  HSG or at laparoscopy / laparotomy  If affecting pregnancy outcome  surgical correction (metroplasty)Rx  If affecting pregnancy outcome  surgical correction (metroplasty)

58. C-Septate uterus External contour of the uterus is normal but there is intrauterine septum of varying length & thickness Worst pregnancy outcome  Dx  both HSG & laparoscopy  Hystroscopic excision of the septum Rx  Hystroscopic excision of the septum D-Unicornuate uterus Due to development of only one Mull duct Almost all pt have associated single kidney  similar to pt with didelphic uteri Pregnancy outcome  similar to pt with didelphic uteri Dx  HSG or surgery Dx  HSG or surgery  NO corrective surgery Rx  NO corrective surgery  if pt has associated cx incompetence  cx cerclage cerclage

59. E-Unicurnuate with rudimentary horn Noncommunicating horn 90% Present with cyclic pelvic pain, mass, ectopic pregnancy in the rud horn or endometriosis Rx  surgical excision Communicating horn Present with ectopic pregnancy in the rud horn or  pregnancy wastage

60. 3. DISORDERS OF VERTICALE FUSION OF THE MULLERIAN DUCTS A- VAGINAL SEPTUM Faults in the junction between the Mull. Tubercle & the urogenital sinus  could be very thick or thin 85% in upper two third of the vagina Pt present 1ry amenorrhea, hematocolpus, mass or cyclic abdominal pain  incidence of endometriosis Rx  surgical exision B-Cx AGENISIS / DYSGENISIS V rare Difficult, unsuccessful surgical correction Rx  hysterectomy

62. 4. UNUSUAL CONFIGRATION OF VERTICAL/LATERAL FUSION DEFECTS Combined lateral & verticle defects Do not fit in other categories EXAMPLE, double uterus with obstructed hemivagina

63. Double uterus with vaginal obstruction A-Complete vaginal obstruction B-Incomp vag obst C-Comp obst with comm double uterus

64. 5. DEFECTS OF THE EXTERNAL GENITALIA  congenital adrenal hyperplasiaAmbigious genitalia  congenital adrenal hyperplasia hermaphrodites hermaphrodites Defects of the clitoris  uncommon  bifid clitoris hypertrophied  androgen effectDefects of the clitoris  uncommon  bifid clitoris hypertrophied  androgen effect IMPERFORATE HYMENIMPERFORATE HYMEN Hymen is formed at the junction of the urogenital sinus & sinovaginal bulbs Hymen is formed at the junction of the urogenital sinus & sinovaginal bulbs Pt presents with 1ry amenorrhea with cyclic abdominal pain or hematocolpus /hematometra Pt presents with 1ry amenorrhea with cyclic abdominal pain or hematocolpus /hematometra Rx  cruciate incision Rx  cruciate incision