title: [Isolated hypospadias in 5 brothers].
abstract: The healthy couple had five sons with hypospadias (glandular 1, coronal 4) without other child. Similar familial cluster has not reported in the sons of European parents without consanguinity. Mild form androgen insensitivity syndrome was expected in these 5 boys because of the X-linked androgen receptor gene, however, sequencing of the entire coding region (exons 1-8) and all intron-exon boundaries of the androgen receptor gene did not reveal abnormality and the CAG repeat was found in the normal range (21 repeats). This extreme familial cluster may help us to elucidate gene polymorphisms in the polygenic background of the multifactorial origin of isolated hypospadias. Therefore, the authors collaborate with a genetic institute in Pittsburg, USA to perform whole genome sequencing in these probands and their parents.
authors.affiliation: Uro-onkológiai Osztály, Országos Onkológiai Intézet Budapest.
authors.forename: Stelios
authors.initials: S
authors.lastname: Mavrogenis
authors.forename: Endre
authors.initials: E
authors.lastname: Czeizel
mesh_terms: D013734:Androgen-Insensitivity Syndrome / Q000175:diagnosis; D005091:Exons; D055106:Genome-Wide Association Study; D006801:Humans; D006814:Hungary; D007021:Hypospadias / Q000209:etiology / Q000235:genetics; D007231:Infant, Newborn; D008297:Male; D010375:Pedigree; D011110:Polymorphism, Genetic; D011944:Receptors, Androgen / Q000235:genetics*; D012307:Risk Factors; D017422:Sequence Analysis, DNA; D035781:Siblings
chemical_list: C410798:AR protein, human; D011944:Receptors, Androgen
keywords: családi halmozódás; etiology; familial cluster; gene identification; génazonosítás; hypospadias; hypospadiasis; kóreredet