Fróðskaparrit - 01.01.1965, Page 90

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True Hermaphroditism
taining 47 chromosomes or more11. To produce a positive sex
chromatin test, two X sex chromosomes are required, and to
give a male phenotype one Y sex chromosome is necessary.
Thus, in most cases the sex chromosomes are XXY. However,
other sex chromosomal patterns have been found — XXY/XX,
XXY/XO, XXXY, XXYY, XXY/XXXY12.
In a patient with gonadal dysgenesis (Turner’s syndrome),
the female genitalia are immature and other characteristic
congenital somatic abnormalities are present. These individuals
are most often sex chromatin negative2, and chromosome ana-
lysis reveals only one sex chromosome. This sex chromosome
is an X sex chromosome. On rare occasions patients with
Turner’s syndrome have two X sex chromosomes or mosaics,
but in such cases one of the X sex chromosomes is often defec-
tive. Complete absence of sex chromosomes is most likely
incompatible with life on account of loss of genes14.
A disorder which often shows familial occurrence, is Morris’
syndrome or the so-called testicular feminization, in which a
negative Barr-phenomenon and normal male chromosomal
arrangement — XY — are found in a phenotypical female.
In these patients testes will often be present in the inguinal
canal.
The triple-X syndrome or the so-called super-female syn-
drome is a disorder in certain females, in whom two Barr
-bodies and three sex chromosomes — XXX — will be found.
True hermaphroditism.
True hermaphroditism is a rare condition. Since 1900, a
total of 118 cases has been reported in the literature. In 25
of these cases chromosome analysis was carried out13. In order
to establish the diagnosis with certainty, both testicular and
ovarian tissue must be demonstrated histologically.
On examination it appeared that 80% of the patients in
whom chromosome analysis was carried out were sex chroma-
tin positive, and that 70% of those examined had a normal
female sex chromosomal pattern — XX, Two of the sex chro-