Translocations involving X chromosome and an autosome are rather rare due to the associated infertility in men and subfertility in women. X-autosome translocations are frequently associated with primary or secondary ovarian failure and at times Turner syndrome-like features if there is an involvement of the critical region of Xq13-q26. A 19-year-old proposita with a complaint of amenorrhea was found to have hypoplastic uterus and streak ovaries. Hormonal profile revealed hypergonadotropic hypogonadism. Chromosomal analysis of 25 conventionally stained metaphases revealed the karyotype to be 46,X,t(X;7)(q13;p15)de novo. This rare finding is the first report from India, to the best of our knowledge. She also exhibited the maternally inherited heteromorphic variant of chromosome 21. The occurrence of t(X;7) in the proposita with hypergonadotropic amenorrhea confirms the role of X-autosome translocations in ovarian dysfunction.
Molecular characterization of 27 cytogenetically confirmed Indian XY females was attempted by screening selected regions of candidate genes namely SRY (HMG box) and the ligand-binding domain of androgen receptor (AR) (Exons 5-8). Three of the index cases showed sequence variations in exons of the AR gene: a deletion mutation in exon 6 (c.2762 del C), a substitution mutation (c.2925 C>T), and a novel splice donor site mutation (IVS5+1 g>a; exon 5/intron 5). The proband's (case VA156) mother and one of the sisters were heterozygous for the novel splice donor site mutation while the father was normal. Review of literature suggested that an alternate spice donor site could be utilized leading to an aberrant splicing resulting in a truncated receptor. This could not be validated further through reverse transcriptase-polymerase chain reaction as the patient failed to cooperate for follow-up. Of the 16 spice site variations reported in various ethnic groups, this is a novel variation in the AR gene to be associated with Androgen Insensitivity Syndrome. The proband's sister, noted to be a heterozygous carrier, has high risk of having XY female progeny; hence prenatal screening of the mutation in case of an XY fetus is recommended.
Ovotestis refers to the presence of a gonad with histological existence
of both ovaian follicles and Testicular tubular elements; this condition
is labelled as True hermaphroditism. The gonads may be ovotestis
bilateral or they may be ovary or testis on one side and an ovotestis on
the other.
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