Intersexuality By Dr ASAD

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Intersexuality By Dr ASAD

  1. 1. Dr ASADULLAH BHURT Assistant Professor Isra University Hospital . Hyderabad
  2. 2. What is Inter sex OR IntersexualityWhat is Inter sex OR Intersexuality Definition of Inter Sex : An individual in whom there is discordance between chromosomal, gonadal, internal genital, and phenotypic sex or the sex of rearing
  3. 3. INTERSEXUALITY:INTERSEXUALITY: .  Discordance between any two of the organic sex criteria TRANSSEXUALITY: Discordance between organic sex and psychological sex components
  4. 4. Components of IntersexualityComponents of Intersexuality Gender identity (Psychological sex) Inner sense of owns maleness / femaleness.  Sex of rearing  Gender role Sexual identity (Organic sex) The biologic sexual differentiation  Chromosomal sex  Gonadal sex  Internal genital sex  External genital sex  Hormonal sex
  5. 5. Human sexual differentiation Chromosomal sex Gonadal sex External genital sexInternal genital sex SEX ASSIGNMENT Gender identity and role Sex of rearing
  6. 6. Gonadal developmentGonadal development
  7. 7. Gonadal developmentGonadal development SRY-gene (TDF) Short arm of Y chromosome Bipotential Gonad 2 X chromosomesReceptors For H -Y antigen OVARYTESTES Present Absent
  8. 8. Internal genital organs development
  9. 9. FemaleMale Urogenital sinus External genital organs develomentExternal genital organs develoment
  10. 10. Leydig cells Sertoli cells Testosterone Mullerian inhibiting factor Wollfian duct 5a-reductase Urogenital sinus Regrsession of Muuleian ducts Male external genitalia Male internal Genital organs DHT TESTIS Male development
  11. 11. Urogenital sinus Female external genitalia . Lower part of vagina OVARY Mullerian ducts Female internal genital Organs . Most of upper vagina . Cervix and uterus . Fallopian tubes Neutral Development Absence of androgen exposure Female development
  12. 12. CLASSIFICATION OF INTERSEXUALITY 1. Virilization of genetically female fetus Female pseudohemaphroditism 2. Incomplete musculinization of genetically male fetus Male pseudohermaphroditism (XY-FEMALE) 3. The presence of both ovarian and testicular tissue in the same individual True hermaphroditism 4. Chromosomal abnormality. Mixed gonadal dysgenesis ( 45,X0 / 46,XY)
  13. 13. FEMALE PSEUDOHERMAPHRODITISM EXCESS FETAL ANDROGENS Congenital adrenal hyperplasia  21 -hydrxylase deficiency  11-hydroxylase deficiency  3ß-hydroxysteroid dehydrogenase deficiency EXCESS MATERNAL ANDROGENS  Maternal androgen secreting tumours (ovary, adrenal)  Maternal ingestion of androgenic drugs
  14. 14. 21-hydrxylase deficiency congenital adrenal hyperplasia Pituitary ACTH Adrenal cortex  AndrogensCortisol Cholesterol Pregnenolone Progesterone 17-OH progesterone 21-hydroxylase AndrogensCortisol
  15. 15. Congenital adrenal hyperplasia  The commonest cause of genital ambiguity at birth  21-Ohas deficiency is most common form  Autosomal reccessive  Salt wasting form may be lethal in neonates  SERUM 17OH-progesterone (21OHase)   SERUM deoxycorticosterone, 11-deoxycotisol (11- OHase)  Treatment : cortisol replacement and ? Surgery
  16. 16. Drugs with Androgenic side effectsDrugs with Androgenic side effects ingested during pregnancyingested during pregnancy - Testosterone - Synthetic progestins - Danocrine - Diazoxide - Minoxidil - Phenetoin sodium - Streptomycin - Penicillamine
  17. 17. Male pseudohermaphroditismMale pseudohermaphroditism (XY- FEMALE)(XY- FEMALE) Failure to produce testosterone  Pure XY gonadal dysgenesis (swyer’s syndrome)  Anatomical testicular failure (testicular regression syndrome)  Leydig-cell agenesis  Enzymatic testicular failur Failure to utelize testosterone  5-alpha-reductase deficiency  Androgen receptor deficiency * Complete androgen Insensitivity (TFS) * Incomplete androgen Insensitivity
  18. 18. SwyerSwyer’’ss syndromesyndrome 46, XY No SRY OR its receptors STREAK GONADS - NO MIF (Uterus +) - NO SEX STEROIDS Female Internal Genitalia Female external Genitalia
  19. 19. Testicular regression syndromeTesticular regression syndrome 46-XY/SRY Testis  MIF (self destruction) ± testosterone ± DHT ± Male Internal genitalia Female or ambiguous External genitalia
  20. 20. Leydig-cell agenesisLeydig-cell agenesis 46-XY/SRY TESTIS  MIF ( partial/ complete absence Of leydig-cells) No or  testosterone No or  DHT ± Male Internal Genitalia Female or ambiguous external Genitalia
  21. 21. Testicular enzymaticTesticular enzymatic failurefailure46-XY/SRY Testis  MIF (defects in testosterone Synthesis)  testosterone precursors DHT Male Internal Genitalia Ambiguous External Genitalia Autosomal recessive enzyme deficiency : -20-22 desmolase -3-ß-ol- dehydrogenase -17- ∝ -hydroxylase -17,20-desmolase -17-ß –hydroxysteroid oxyreductase
  22. 22. 5-alpha-reductase5-alpha-reductase deficiencydeficiency 46-XY/SRY Testis  MIF Testosterone 5-∝-rductase Male Internal Genitalia Female or Ambiguous external Genitalia DHT
  23. 23. Testicular feminizationTesticular feminization syndromesyndrome 46-XY/SRY TESTIS  MIF Testosterone 5-∝-reductase DHT Absent androgen receptors Male Internal Genitalia Female External Genitalia Incomplete form  Ambigious genitalia
  24. 24. Diagnosis of XY Female Testosterone concentration Normal Male level DHT NormalLow Testicular Feminization Syndrome 5 ∝-reductase Deficiency Low Concentration of Testosterone precurcers LowHigh Absent testes or Absent leydig- cell Testicular enzyme Failure Surgical exploration
  25. 25. MIXED GONADAL DYSGENESISMIXED GONADAL DYSGENESIS  Combined features of Turner’s syndrome and male pseudohermaphroditism  Short stature  Streak gonad on one side with a testis on the other  Unicornuate uterus & fallopian tube- side of streak gonad  Karyotype 46XY / 45X0  Considrable variation in the sexual phenotype
  26. 26. TRUE HERMAPHRODITISM • Gonads : - ovary one side and testis on the other or - bilateral ovotestis • Karyotype : 46,XX most common(57%); XY(13%) and XX/XY(30%) • Internal genitalia : Both mullerian and wolffian derivates • Phenotype is variable • Gonadal biopsy is required for confirming diagnosis
  27. 27. TRUE HERMAPHRODITISMTRUE HERMAPHRODITISM
  28. 28. CLINICAL PRESENTATIONCLINICAL PRESENTATION OF INTERSEXUALITYOF INTERSEXUALITY AT BIRTH Ambiguous genitalia DURING CHILDHOOD Heterosexual features AT ADOLESSCENCE Delayed or Heterosexual Puberty
  29. 29. MANAGEMENT OF NEWBORN WITH AMBIGUOUS GENITALIA DIAGNOSIS  History : pregnancy; family  Detailed examination : abdomen; pelvis; external genitalia; urethral and anal openings. Federman’s rule: a palpable gonad below the inguinal ligament is testes until proven otherwise
  30. 30. SURGICAL CONSIDERATIONSSURGICAL CONSIDERATIONS Phallic / clitoral reduction if the assigned sex is female, before 3 years of age Removal of intra-abdominal gonads / streaks in newborns carrying Y chromosome Vaginal construction / repair is better performed around puberty
  31. 31. Before surgery After surgery
  32. 32. INTERSEXUALITY PRESENTING AT ADOLESCENCE Primary amenorrhea - Complete androgen insesitivity (TFS) - Congenital anorchia ( early testicular regression syndrome) - Complete leydig-cell agenesis - Some forms of enzymatic testicular failure Ambiguous genitalia - Neglected congenital adrenal hyperplasia - Mixed gonadal dysgenesis - Partial androgen resistance - Congenital anorchia ( Late ) - Testicular enzymatic failure - Leydig cell agenesis ( incomplete) - True hermaphrotidism
  33. 33. INTERSEXUALITY PRESENTING AT ADOLESCENCE Surgical aspects of manegementClitoral reduction Removal of gonads in the presence of Y chromosome Vaginal repair and construction
  34. 34. Before surgery After surgery

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