Premium
Molecular genetics of hypospadias and cryptorchidism recent developments
Author(s) -
Kalfa Nicolas,
Gaspari Laura,
Ollivier Margot,
Philibert Pascal,
Bergougnoux Anne,
Paris Francoise,
Sultan Charles
Publication year - 2019
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/cge.13432
Subject(s) - hypospadias , disorders of sex development , biology , phenotype , molecular genetics , genetics , gene , genome wide association study , androgen , single nucleotide polymorphism , endocrinology , genotype , hormone
During the last decade, a tremendous amount of work has been devoted to the study of the molecular genetics of isolated hypospadias and cryptorchidism, two minor forms of disorders of sex development (DSD). Beyond the genes involved in gonadal determination and sex differentiation, including those underlying androgen biosynthesis and signaling, new genes have been identified through genome‐wide association study and familial clustering. Even if no single genetic defect can explain the whole spectrum of DSD, these recent studies reinforce the strong role of the genetic background in the occurrence of these defects. The timing of signaling disruption may explain the different phenotypes.