• If abnormalities of cell division occur, a fetus with mosaicism may result.
  • The baby may have both cells with 46 XY chromosomes and cells with 46 XX chromos0omes.
  • This condition has been called hermaphroditism
  • It is one of many causes of intersex
  •  Because both male (46-XY) and female (46-XX) cells exist within the same fetus, both male and female structures develop
  • It can be caused by the division of one ovum, followed by fertilization of each haploid ovum and fusion of the two zygotes early in development.
  • Alternately, an ovum can be fertilized by two sperm followed by trisomic rescue in one or more daughter cells.
  • Two ova fertilized by two sperm will occasionally fuse to form a tetragametic chimera. 
  • If one male zygote and one female zygote fuse, a hermaphroditic individual may result.
  • It can be associated with mutation in the SRY gene
  • The most common cause of female pseudohermaphroditism is congenital (virilizing) adrenal hyperplasia

There are four different types of hermaphroditism, as follows:

46, XX hermaphroditism:

  • Caused by the excessive exposure of the female fetus to male hormones in the womb.

46, XY hermaphroditism:

  • Occurs because of an imbalance of female and male hormones.

True gonadal hermaphroditism:

  • An individual with true gonadal hermaphroditism has both ovarian and testicular tissue, either in the same gonad (referred to as an ovotestis) or in one ovary and one testis. 

Complex hermaphroditism:

  • 45, XO
  • 47, XXY
  • 47, XXX
  • Hypospadias: Penis is not completely virilized 
  • One or both testes may not be palpable or they may be palpable, but undescended.
  • Infant with both hypospadias and an undescended testis (cryptorchidism) suggest possibility of intersex.
  • Internally, Müllerian structures develop (uterus, oviducts, vagina).
  • Ambiguous genitalia
  • Micropenis
  • Clitoromegaly
  • Labial fusion
  • Undescended testes
  • Hypospadias
  • Electrolyte abnormalities
  • Delayed, absent or abnormal pubertal changes

Gonadal tissue of both genders is present in various patterns: 

  • A testis on one side and an ovary on the other, a testis on one side and an ovo-testis (gonad containing both ovary and testis) on the other, or an ovary on one side and an ovo-testis on the other.

Female pseudohermaphroditism:

  • Empty scrotum syndrome
  • Autosomal recessive
  • Ovaries present
  • Excessive androgen exposure
  • Müllerian-inhibiting substance is not produced
  • Karyotype is 46,XX  
  • 21– hydroxylase deficiency

Male pseudohermaphroditism:

  • 5-a reductase deficiency
  • 17 hydroxylase deficiency
  • Genotype is XY
  •  External genitalia are female
  • Analysis of chromosomes
  • Blood tests to investigate hormone and electrolyte levels
  • Hormone stimulation tests
  • Molecular testing
  • Endoscopic exam
  • Ultrasound imaging
  • Magnetic resonance imaging (MRI)
Exam Question
  • True hermaphroditism is when Tissues of both the ovaries and testes are present
  • Commonest cause of female pseudo hermaphroditism is Congenital adrenal hyperplasia
  • Empty scrotum syndrome is seen in female pseudohermaphroditism
  • Ovaries present in  female pseudohermaphroditism
  • Excessive androgen exposure is seen in  female pseudohermaphroditism
  • Male pseudohermaphroditism is seen in 5-a reductase & 17 hydroxylase deficiency
  • 21-Hydroxylase deficiency is Autosomal recessive
Don’t Forget to Solve all the previous Year Question asked on Hermaphroditism

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