- 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.
- 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
- Labial fusion
- Undescended testes
- 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.
- Empty scrotum syndrome
- Autosomal recessive
- Ovaries present
- Excessive androgen exposure
- Müllerian-inhibiting substance is not produced
- Karyotype is 46,XX
- 21– hydroxylase deficiency
- 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)
- 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