Clinical and DNA studies on 46, XY females with gonadal dysgenesis. A report of six cases.
BACKGROUND
Understanding the process of sex determination has been aided by the molecular analysis of individuals whose karyotype does not correspond to their phenotype, 46, XX males and 46, XY females.


METHODS
We studied the clinical and molecular data on six 46, XY females of Indian ethnic origin. In each subject, cytogenetic analysis indicated a 46, XY karyotype without mosaicism. In four of the cases DNA studies were performed on the sex-determining region, Y chromosome gene. A de novo point mutation was identified in one subject.


CONCLUSIONS
Our data provide additional evidence for genetic heterogeneity in the etiology of 46, XY gonadal dysgenesis.
Kucheria
K
K
Department of Anatomy, All India Institute of Medical Sciences, Ansari Nagar, New Delhi, India.
Mohapatra
I
I
Ammini
A C
AC
Bhargava
V L
VL
McElreavey
K
K
D000293:Adolescent; D000328:Adult; D004247:DNA / Q000032:analysis / Q000235:genetics*; D005260:Female; D006061:Gonadal Dysgenesis, 46,XY / Q000175:diagnosis / Q000209:etiology / Q000235:genetics*; D006801:Humans; D007194:India / Q000208:ethnology; D007621:Karyotyping; D009154:Mutation; D010641:Phenotype; D016133:Polymerase Chain Reaction; D044465:White People
D004247:DNA