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Concept
True hermaphroditism
Summary
True hermaphroditism, sometimes referred to as ovotesticular syndrome, is an outdated term for an intersex condition in which an individual is born with both ovarian and testicular tissue. Commonly, one or both gonads is an ovotestis containing both types of tissue.
Although it is similar in some ways to mixed gonadal dysgenesis, the conditions can be distinguished histologically.
The term derives from the hermaphroditus, from hermaphroditos, which derives from Hermaphroditos (Ἑρμαφρόδιτος), the son of Hermes and Aphrodite in Greek mythology. According to Ovid, he fused with the nymph Salmacis resulting in one individual possessing physical traits of both sexes; according to the earlier Diodorus Siculus, he was born with a physical body combining both sexes. Usage of the term dates back to the third century BC. The word hermaphrodite entered the English lexicon in the late fourteenth century.
Gynecomastia (present in 75% of cases.)
The first medical attempts to document cases appeared in the 16th century. Up until the Late Middle Ages individuals with these conditions were viewed as monsters.
There are several ways in which this may occur.
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 cells will occasionally fuse to form a tetragametic chimera, if one male zygote and one female zygote fuse.
It can be associated with a mutation in the SRY gene.
In ovotesticular syndrome, XX is the most common (55-80% of cases); most individuals with this form are SRY negative.
Next most common are XX/XY (20-30% of cases) and XY (5-15% of cases), with the remainder being a variety of other chromosomal anomalies and mosaicisms.
Some degree of mosaicism is present in about 25%.
Encountered karyotypes include 46XX/46XY, or 46XX/47XXY or XX & XY with SRY mutations, mixed chromosomal anomalies or hormone deficiency/excess disorders, 47XXY.
Official source
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