Sex Determination-Nuclear Sexing

Sex Determination-Nuclear Sexing


Most Certain Evidences
  • Presence of testis in males & ovaries in females.
  • Shown by ejaculation & menstruation respectively after puberty in males & females.
Highly probable evidence
  • Females: Presence of breast, vagina, appropriate muscular development, absence of moustache, beard, chest hair.
  • Males: Absence of breast tissue, appropriate muscular development,
  •   Presence of penis, moustache, beard, chest hair
Presumptive evidence 
  • Face
  • Dress
  • Costume
  • Hair
  • Voice
Nuclear Sexing
  • The sex can be determined by studying the presence of:
  1. Barr bodies
  2. Davidson’s bodies and
  3. ‘Y’ chromosomes.
Barr bodies (Sex Chromatin
  • It is plano-convex nuclear condensation seen at the inner surface of the nuclear membrane.
  • First detected in brain.
  • In females more than 40% of nuclei of buccal mucosa contain chromatin body (chromatin positive),
  • In males only less than 10% of nuclei contain chromatin body (chromatin negative).
  • The ideal tissues to study Barr bodies are buccal mucosa, skin, smooth muscle and cartilage.
  • Medico-Legal Importance: To differentiate between males & females 
 
Davidson Bodies
  • In females,upto6% of polymorphic W.B.C’s (i.e. neutrophils and eosinophils) show a thin stalked drumstick like projection at the periphery of the nucleus.
  • This is absent in males
Y- Chromosomes
  • The ‘Y’ Chromosomes present in males are fluroscent for the dye Quinacrine dihydrochloride.
  • Blood stains, cartilage, bone marrow, teeth pulp and hair root pulp can be used as specimens.
Intersex States
  • These are the conditions wherein both male and female characters coexist in varying degrees in the same individual.
  1. Gonadal agenesis – gonads (either ovaries or testes) fail to develop. The nuclear sex is chromatin negative.
  2. Gonadal dysgenesis – External genital organs are present, but the testes or ovaries fail to develop at puberty.
Gonadal dysgenesis
a. Klinefelter’s  syndrome 
  • Anatomical structure in male, but the nuclear sexing is female (chromatin positive).
  • Barr bodies present
  • The chromosomal pattern is 47XXY
  • Usually undiagnosed till puberty.
  • Testes are small & firm in consistency, aspermia, No semen, Hyalinised testis (histologically).
  • Gynaecomastia is usual finding.
  • Sexual Euinacioidism (long arm& legs, scanty public hair growth. may not have hair growth over face)
  • Person is usually tall with long slender arm’s & legs, scanty or absent facial hair, axillary hair and pubic hair, thin voice (Sexual Euinacioidism).
 
b.Turner’s syndrome 
  • Anatomical structure is female nuclear sexing is male (chromatin negative).
  • Barr bodies absent
  • The chromosomal pattern is 45 XO
  • The person is usually of short stature.
  • There is lack of development of secondary sexual characteristics associated with primary amenorrhoea, grossly undeveloped breast with widely spaced nipples, scanty public & axillary hair, infantile tubes and streak ovaries (no ovarian follicle, contains fibrous tissue).
  • Congenital anomalies like Web neck, cubitus valgus, coarctation of aorta, osteoporosis, renal abnormalities, red-green colour blindness. 
True hermaphroditism
  • A rare condition,wherein external genitalia may be of both sexes, but internally there is presence of both testes & ovaries and ovotestes
Pseudohermaphroditism
  • External characteristics of one sex, with gonads of opposite sex
a.Male pseudohermaphroditism:
  • Nuclear sex XY, sex organs & sexual characteristic of female form
b.Female pseudohermaphroditism:
  •  Nuclear sex XX, sex organs & sexual characteristic of male form

Medico-Legal Importance of sex

  • Marriage, divorce, Nullity of marriage, inheritance, rape, maternity, paternity, employment, contesting for election & other civil rights.

Exam Important

Nuclear Sexing
  • The sex can be determined by studying the presence of:
  1. Barr bodies
  2. Davidson’s bodies and
  3. ‘Y’ chromosomes.
Barr bodies (Sex Chromatin) 
  • First detected in brain.
  • In females more than 40% of nuclei of buccal mucosa contain chromatin body (chromatin positive),
  • In males only less than 10% of nuclei contain chromatin body (chromatin negative).
 
Davidson Bodies
  • This is absent in males
Y- Chromosomes
  • The ‘Y’ Chromosomes present in males are fluroscent for the dye Quinacrine dihydrochloride.
Intersex States
Gonadal dysgenesis
a. Klinefelter’s  syndrome 
  • Anatomical structure in male, but the nuclear sexing is female (chromatin positive).
  • Barr bodies present
  • The chromosomal pattern is 47XXY
  • Testes are small & firm in consistency, aspermia, No semen, Hyalinised testis (histologically).
 
b.Turner’s syndrome 
  • Anatomical structure is female nuclear sexing is male (chromatin negative).
  • Barr bodies absent
  • The chromosomal pattern is 45 XO
True hermaphroditism
  • A rare condition,wherein external genitalia may be of both sexes, but internally there is presence of both testes & ovaries and ovotestes
Pseudohermaphroditism
  • External characteristics of one sex, with gonads of opposite sex
a.Male pseudohermaphroditism:
  • Nuclear sex XY, sex organs & sexual characteristic of female form
b.Female pseudohermaphroditism:
  •  Nuclear sex XX, sex organs & sexual characteristic of male form

Medico-Legal Importance of sex

  • Marriage, divorce, Nullity of marriage, inheritance, rape, maternity, paternity, employment, contesting for election & other civil rights.
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