Unit:
Κατεύθυνση Έρευνα στην Γυναικεία ΑναπαραγωγήLibrary of the School of Health Sciences
Supervisors info:
Χριστίνα Κανακά-Gantenbein/Αναπληρώτρια Καθηγήτρια Παιδιατρικής Ενδοκρινολογίας και Νεανικού Διαβήτη, Καναβάκης Εμμανουήλ/Καθηγητής Ιατρικής ΕΚΠΑ, Χρισταλένα Σοφοκλέους/Μοριακή Βιολόγος
Original Title:
Διερεύνηση των γονιδίων INSL3, HOXD13, HOXA10 για πιθανή συσχέτιση με την εμφάνιση της μεμονωμένης κρυψορχίας στον ελλαδικό χώρο
Translated title:
Evaluation of the genes INSL3, HOXD13 and HOXA10 for possible correlation with the pathogenesis of isolated cryptorchidism in Greece
Summary:
Cryptorchidism is defined as the failure of at least one testis to descend into
the scrotum. It has an estimated prevalence of 2–4% even though there has been
an increase in its prevalence during the last decades. There is evidence that
endocrine disruptors, androgen, estrogen and few genes are responsible for
cryptorchidism. In the present study the correlation between genes such
as INSL3, HOXD13 and HOXA10 with the pathogenesis of isolated cryptorchidism in
Greece was evaluated using the techniques PCR, ECMA and Sequencing. A total of
43 patients with mean age 3 years were tested. Concerning the INSL3 gene a new
variant in the 5 'untranslated region, * -109 T>A was observed. Furthermore the
presence of two synonymous polymorphisms 27G>A and 126A>G and a missense
polymorphism of the 178A>G both in heterozygous and homozygous condition were
found. Concerning the HOXD13 gene an unknown variant in the 3 'untranslated
region the reversal *528*529 was revealed, as well as a synonymous polymorphism
204G>A, two polymorphisms *311C> T and *360A> T in the 3'untranslated region
and was also observed in a patient an insertion * 359_*360insT in the
3'untranslated region. In some patients we have observed an expansion of the
polymorphic microsatellite sequence CA in an intronic region. In the control
group, a large number of individuals carried the polymorphisms 27G> A, 126A> G
and 178A> G, but none of them showed the variant * -109 T>A. Moreover, some of
our patients demonstrated a combination of polymorhic alleles, affecting both
the INSL3 and the HOXD13 genes, probably suggesting an interaction between
these two genes in the pathogenesis of cryptorchidism.
Keywords:
Cryptorchidism, Isolated cryptorchidism, INSL3, HOXD13, HOXA10
Number of index pages:
89-94
