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  1. 1. DR: Manal Behery INTERSEX
  2. 2. Definition of IntersexDefinition of Intersex It is incomplete (imperfect )sexual differentiation into either male or female (doubt on sex assignment).
  3. 3. Genotype of embryo 46XX or 46XY is established at fertilization  SRY (sex-determining region on Y) that encodes a protein called testis- determining factor (TDF) are responsible for male differentiation Sertoli cell AMH lydeig cell testosterone
  4. 4. Components which form female and male reproductive systems are: 1. Gonads Ovaries or testes 2. Genital Duct Systems Mesonephric and Paramesonephric ducts 3. External Genitalia Components which form female and male reproductive systems are:
  5. 5. Indifferent EmbryoIndifferent Embryo Weeks 1-6 sexually indifferent or undifferentiated stage Week 7 begins phenotypic sexual differentiation Week 12 female or male characteristics of external genitalia can be recognized and completed at 20 weeks.
  6. 6. At 4At 4THTH Week of gestationWeek of gestation Mesonephric Duct extending from the mesonephros (Wolff’s body) to the cloaca  (urogenital sinus)
  7. 7. At 5At 5THTH Week of gestationWeek of gestation A Swelling on either side of dorsal mesentry on medial side of mesonephric duct forms the urogenital ridge
  8. 8. Female Genital Duct FormationFemale Genital Duct Formation  In ovary the absence of testosterone inhibits the development of the mesonephric ducts.  In absence of AMH, paramesonephric ducts form the female internal genital tract.
  9. 9. At 6At 6THTH week gestationweek gestation Paramesonephric or Mullerian Duct develops lateral to the Mesonephric ”wolffian “ Duct
  10. 10. The middle and caudal parts of the Mullerian ducts undergoes medial migration and fusion.  The cranial 1/3 → tubes.  The middle 1/3 → uterus and cervix.  Caudal 1/3 → upper 3/4 of vagina.
  11. 11. Development of the vaginaDevelopment of the vagina
  12. 12. Seven points of sex identificationSeven points of sex identification 1. Genetic sex 2. Gonadal sex 3. Sex of the duct system 4. External genital sex 5. Phenotypic sex 6. Gender sex (cerebral one) 7. Sex of rearing
  13. 13. Normal sex differentiationNormal sex differentiation depends on.depends on. The delicate interplay of -Genetic, -Hormonal -And psychic factors.
  14. 14. Gentic abnormalitiesGentic abnormalities (Chromosomal Intersex)(Chromosomal Intersex)
  15. 15. Turner syndrome” ovarianTurner syndrome” ovarian dysgensis”dysgensis”
  16. 16. Klinefelter syndromeKlinefelter syndrome  A male with an extra X chromosome, so the karyotype is 47 ,XXY.  Some patients have more than 2 X chromosomes, and some have a mosaic karyotype (47 ,XXY -46,XY).
  17. 17. The extra X chromosomeThe extra X chromosome may lead to somaticmay lead to somatic abnormalitiesabnormalities 1) Gynaecomastia (90%). 2) Female distribution of pubic hair. 3) Mental retardation which increases with the increase in number of X Chromosomes
  18. 18. Mixed gonadal dysgenesisMixed gonadal dysgenesis  The individual is a female. The Karyotype is mosaic; 45X0/46XY. There is one testis on one side and a streak gonad or no gonad on the other side. The external genital organs may be ambiguous, and the patient virilizes at puberty.
  19. 19. Gonadal Intersex
  20. 20. Gonadal AbnormalitiesGonadal Abnormalities (Gonadal Intersex)(Gonadal Intersex)
  21. 21. The individual has both testicular and ovarian tissues in different combinations. An ovary on one side and a testis on the other side, or an ovary or testis on one side and an ovotestis on the other side, or an ovotestis on both sides. The true hermaphrodite
  22. 22. The true hermaphroditeThe true hermaphrodite The sex chromosomes may be male (XY) or female (XX) ormosaic, i.e. some cells are XX and others are XY. The external appearance (phenotype) may be male or female. The external genital organs may be male or female or ambiguous. Diagnosis is made by gonadal biopsy.
  23. 23. pseudo hermaphroditepseudo hermaphrodite gonads belong to one sex and the external genital organs belong to the other sex. If the gonads are ovaries the individual is a female pseudohermaphrodite, e.g. congenital adrenal hyperplasia. If the gonads are testes the individual is a male pseudohermaphrodite, e.g. testicular feminization syndrome.
  24. 24. Testicular feminizationTesticular feminization syndromesyndrome Phenotype:female Genotype46xy male Internal gentilia:no mullerin ducts(AMH ) Male androgen level 7.8ngl ml Testicular feminization syndrome (Male pseudo hermaphrodite)
  25. 25. Testicular feminizationTesticular feminization syndromesyndrome Phenotype:female Genotype46xy male Internal gentilia:no mullerin ducts(AMH ) Male androgen level 7.8ngl ml Congenital Adrenal Hyperplasia(female pseudo hermaphrodite)
  26. 26. What is Congenital Adrenal HyperplasiaWhat is Congenital Adrenal Hyperplasia (CAH)?(CAH)? (CAH) is a family of inherited disorders affecting the adrenal glands. Autosomal recessive (mutation of chromosome 6 21- hydroxylase enzyme impairment) Commoner in consanguineous marriage
  27. 27. Enzyme pathwayEnzyme pathway 
  28. 28. Etiology:Etiology: It is due to failure of synthesis of cortisol from 17a- hydroxyprogesterone due to deficiency of certain enzymes mostly 21-hydroxylase enzyme (95%) and occasionally 11 beta-hydroxylase.
  29. 29. Adrenal Cortex Hormone SynthesisAdrenal Cortex Hormone Synthesis In CAH??? There is enzyme deficiency
  30. 30. Types of CAHTypes of CAH 1. 21-hydroxylase deficiency (>90%)  Classical - salt wasting(75%; 1 in 15,000) - simple virilizing (25%; 1 in 60,000)  Nonclassic (1 in 1,000)  Others :  11B-hydroxylase deficiency(3-5 %, 1 in 100,000)  17α-hydroxylase deficiency / C 17 lyase deficiency (1%)  3B-hydroxysteroid dehydrogenase deficiency(1%)
  31. 31. Failure to produce cortisol leads to increased production of ACTH, which leads to hyperplasia of the adrenal cortex and increased production of androgens from 17a- hydroxyprogesterone.
  32. 32. Congenital Adrenal Hyperplasia
  33. 33. C/PC/P There is virilization of the female fetus with enlargement of the clitoris, fusion of labia minora, and hirsutism. The fallopian tubes, uterus, and vagina are present but remain infantile.
  34. 34. Clinical ManifestationClinical Manifestation Cortisol deficiency – hypoglycemia, inability to withstand stress, vasomotor collapse, hyperpigmentation,, muscle weakness & fatigue.  Aldosterone deficiency – About 75% of infants have hyponatraemia and hyperkalaemia (salt-losing), due to decreased synthesis of aldosterone  Androgen excess – ambiguous genitalia, virilization of external genitalia , hirsutism, *Late onset CAH – normal genitalia, have acne, hirsutism, irregular menses/amenorrhea.
  35. 35. InvestigationInvestigation Karyotyping (determine sex chromosome) Abdominal Ultrasound – to detect presence of uterus, cervix and vagina. Serum 17-hydroxyprogesterone
  36. 36. ManagementManagement  Dexamethasone for life to suppress fetal ACTH- induced androgen production can reduce/eliminate ambiguity of external genitalia in affected female fetuses  Surgical correction of the external genitalia is carried out, preferably during the first 2 years of life to avoid psychological injury of the child.  CYP21 genotyping can be performed in a family with history of CAH
  37. 37. THANK YOU