Letters to the editor
Sex reversal and diaphragmatic hernia in phenotypically female sibs with normal XY chromosomes
| The first 150 words of the full text of this article appear below. |
EDITOR
True agonadism, characterised by the
absence of gonads in both XY and XX patients, is a rare, mostly
sporadic, and isolated condition. Its association with diaphragmatic
hernia seems to be extremely rare and has always been described
associated with multiple congenital malformation (MCA) syndromes of
unknown origin. Sex reversal and diaphragmatic hernia have been
described once with a heterozygous WT1
mutation in a sporadic case.1 The association of normal
feminisation, absent gonads, and diaphragmatic hernia in two XY sibs
without any other malformation suggested other diagnostic
possibilities. Since further investigations did not find any
chromosomal or known genetic cause for this familial sex reversal
syndrome, we suggest that these cases could represent a new sex
reversal syndrome, which could be either autosomal recessive or X
linked, and may result from either unreported mutations of WT1 or anomalies of other developmental genes.
The proband (fig 1, II.4) is the
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