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(SUBTOPIC UNDER IDENTIFICATION CHAPTER-SEX DETERMINATION)
SREEHARSHA P
ROLL NO. 78
2nd Year M.B.B.S
- Is an intermingling of characters of both sexes
in one individual in varying degrees,including physical form,
reproductive organs,harmonal profile and sexual behaviour.
* INCIDENCE =1.7%
TYPES OF INTERSEX
• 1. Gonadal agenesis - gonads completely absent.
• 2. Gonadal dysgenesis - gonads of only 1 sex present, but fail to
develop at puberty.
• 3. True hermaphrodite - gonads of both sexes present.
• 4. Psuedohermaphrodite - gonads of one sex present , but external
sexual characteristics are of opposite sex.
1.GONADAL AGENESIS
• In gonadal agenesis, testes and ovaries are completely absent.
• sex chromatin is absent (46,XY).
2.GONADAL DYSGENESIS
* Testes and ovaries are present , but they fail to develop normally.
* Main features - Streak gonads(gonads composed of fibrous tissue)
* 2 TYPES - a) KLINEFELTER'S SYNDROME.
b) TURNER'S SYNDROME.
a)KLINEFELTER'S SYNDROME
2 X chromosomes and a Y chromosome.
• Genotype = 47,XXY
(48XXXY,49XXXXY,48XXYY- also seen)
• Phenotype = male.
• Incidence = 1:600 males.
 SIGNS & SYMPTOMS
*DIAGNOSIS - usually diagnosed when there is
delay in onset of puberty, behavioural disorders ,
mental retardation.
*BODY DIMENSION - increased height , narrow
shoulders , broad hips.
*SEX RELATED - microorchidism(small testicles),low testosterone
levels, normal to moderately reduced leydig cell function,Azospermia ,
sterility, Gynecomastia.
* HAIR - hair on chest and chin reduced, Axillary & pubic hair absent
*SERUM & URINARY GONADOTROPHINS - Increased.(primary
hypogonadism leads to decreased testosterone levels which causes
increase in levels of FSH and LH)
*OTHER - D.M ,Osteoporosis , thromboembolic disease , varicose
veins.
*HISTOLOGY - testicular atrophy with hyalinization of seminiferous
tubules.
b)TURNER'S SYNDROME
*Affected individual has only one X
chromosome & no Y chromosome.
*Phenotype - Female
*Genotype - 45,XO
*INCIDENCE = 1:2500 girls
>SIGNS & SYMPTOMS
*Diagnosis - at birth by low birth weight,
edema of dorsum of hands & feet, loose
skin folds in the nape of neck(webbed
neck/pterygium colli).
*Stature - short stature, slow growth,micro-
gnathia,shortened 4th metacarpal.
*Sex related - premature ovarian
failure,rudimentary ovaries gonadal
streak,sterility,lack of primary &
secondary sexual characteristics,
increased serum and urinary
gonadotrophins.
*Face - ptosis,visual & auditory
impairment,ear infections,high arch
palate, low set ears,low hairline.
*Chest - broad/shield chest,poor breast
development, widely placed nipples.
*Other - cubitus valgus(increased carrying angle),high waist hip ratio,
obesity,pigmented moles,Heart anomalies, renal defects,spina bifida,
D.M, cushings sydrome.
*Intelligence - most patients have normal intelligence.
*Histology - Ovaries donot contain primordial follicles.
COMPARISION
3.TRUE HERMAPHRODITISM
*condition in which the affected
individual has both ovarian and
testicular tissue.
*very rare condition
*commonly gonads are fused in the
form of ovotestis,but may also present
as ovary on one side and testis on the
other side.
*position-abdominal/inguinal/ing-
scrotal.
*Neither gonad is completely functional.
*Karyotype -46XX/46XY or
46XX/47XXY.
4.PSEUDOHERMAPHRODITISM
*Condition in which the affected individual has gonads of one sex , but
external genitalia of opposite sex.
*2 types - Male pseudohermaphroditism
-Female pseudohermaphroditism
*Male pseudohermaphroditism
-Nuclear sex is XY,but sexual character
and sex organs are female.
-Cause-Androgen insensitivity syndrome.
-5 alpha reductase deficiency.
*gonads are testes.(no ovaries or uterus).
*previous name for AIS- testicular feminization syndrome
*Female pseudohermaphroditism
-Nuclear sex is XX
-external sexual characteristics and internal sex organs are male.
-Causes-congenital adrenal hyperplasia.
MLI OF SEX
*Marriage , divorce , nullity of marriage ,
inheritance , rape, paternity,maternity,
employment and other civil rights.
• In 2014, supreme court directed that transgenders must be
recognized as 3rd gender.
• all documents must contain that category.
Intersex - Forensic medicine

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Intersex - Forensic medicine

  • 1. (SUBTOPIC UNDER IDENTIFICATION CHAPTER-SEX DETERMINATION) SREEHARSHA P ROLL NO. 78 2nd Year M.B.B.S
  • 2. - Is an intermingling of characters of both sexes in one individual in varying degrees,including physical form, reproductive organs,harmonal profile and sexual behaviour. * INCIDENCE =1.7%
  • 3. TYPES OF INTERSEX • 1. Gonadal agenesis - gonads completely absent. • 2. Gonadal dysgenesis - gonads of only 1 sex present, but fail to develop at puberty. • 3. True hermaphrodite - gonads of both sexes present. • 4. Psuedohermaphrodite - gonads of one sex present , but external sexual characteristics are of opposite sex.
  • 4. 1.GONADAL AGENESIS • In gonadal agenesis, testes and ovaries are completely absent. • sex chromatin is absent (46,XY). 2.GONADAL DYSGENESIS * Testes and ovaries are present , but they fail to develop normally. * Main features - Streak gonads(gonads composed of fibrous tissue) * 2 TYPES - a) KLINEFELTER'S SYNDROME. b) TURNER'S SYNDROME.
  • 5. a)KLINEFELTER'S SYNDROME 2 X chromosomes and a Y chromosome. • Genotype = 47,XXY (48XXXY,49XXXXY,48XXYY- also seen) • Phenotype = male. • Incidence = 1:600 males.  SIGNS & SYMPTOMS *DIAGNOSIS - usually diagnosed when there is delay in onset of puberty, behavioural disorders , mental retardation. *BODY DIMENSION - increased height , narrow shoulders , broad hips.
  • 6. *SEX RELATED - microorchidism(small testicles),low testosterone levels, normal to moderately reduced leydig cell function,Azospermia , sterility, Gynecomastia. * HAIR - hair on chest and chin reduced, Axillary & pubic hair absent *SERUM & URINARY GONADOTROPHINS - Increased.(primary hypogonadism leads to decreased testosterone levels which causes increase in levels of FSH and LH) *OTHER - D.M ,Osteoporosis , thromboembolic disease , varicose veins. *HISTOLOGY - testicular atrophy with hyalinization of seminiferous tubules.
  • 7.
  • 8. b)TURNER'S SYNDROME *Affected individual has only one X chromosome & no Y chromosome. *Phenotype - Female *Genotype - 45,XO *INCIDENCE = 1:2500 girls >SIGNS & SYMPTOMS *Diagnosis - at birth by low birth weight, edema of dorsum of hands & feet, loose skin folds in the nape of neck(webbed neck/pterygium colli). *Stature - short stature, slow growth,micro- gnathia,shortened 4th metacarpal.
  • 9. *Sex related - premature ovarian failure,rudimentary ovaries gonadal streak,sterility,lack of primary & secondary sexual characteristics, increased serum and urinary gonadotrophins. *Face - ptosis,visual & auditory impairment,ear infections,high arch palate, low set ears,low hairline. *Chest - broad/shield chest,poor breast development, widely placed nipples. *Other - cubitus valgus(increased carrying angle),high waist hip ratio, obesity,pigmented moles,Heart anomalies, renal defects,spina bifida, D.M, cushings sydrome.
  • 10. *Intelligence - most patients have normal intelligence. *Histology - Ovaries donot contain primordial follicles. COMPARISION
  • 11. 3.TRUE HERMAPHRODITISM *condition in which the affected individual has both ovarian and testicular tissue. *very rare condition *commonly gonads are fused in the form of ovotestis,but may also present as ovary on one side and testis on the other side. *position-abdominal/inguinal/ing- scrotal. *Neither gonad is completely functional. *Karyotype -46XX/46XY or 46XX/47XXY.
  • 12.
  • 13. 4.PSEUDOHERMAPHRODITISM *Condition in which the affected individual has gonads of one sex , but external genitalia of opposite sex. *2 types - Male pseudohermaphroditism -Female pseudohermaphroditism *Male pseudohermaphroditism -Nuclear sex is XY,but sexual character and sex organs are female. -Cause-Androgen insensitivity syndrome. -5 alpha reductase deficiency. *gonads are testes.(no ovaries or uterus). *previous name for AIS- testicular feminization syndrome
  • 14. *Female pseudohermaphroditism -Nuclear sex is XX -external sexual characteristics and internal sex organs are male. -Causes-congenital adrenal hyperplasia.
  • 15. MLI OF SEX *Marriage , divorce , nullity of marriage , inheritance , rape, paternity,maternity, employment and other civil rights. • In 2014, supreme court directed that transgenders must be recognized as 3rd gender. • all documents must contain that category.