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Linkage between cryptorchidism, hypospadias, and GGN repeat length in the androgen receptor gene

Författare

Summary, in English

Although sufficient androgen receptor (AR) function is crucial for normal male sexual differentiation, single-point mutations in the AR gene are infrequent in the two most common male congenital malformations, hypospadias and cryptorchidism. Because polymorphic CAG and GGN segments regulate AR function, we investigated whether there was any association between these polymorphisms and mentioned malformations. Genotyping was performed by direct sequencing of DNA from patients diagnosed with hypospadias (n = 51) and cryptorchidism ( n = 23) and controls ( n = 210). The subjects with hypospadias were divided into subgroups of glanular, penile, and penoscrotal hypospadias. Median GGN lengths were significantly higher ( 24 vs. 23) among both subjects with cryptorchidism, compared with controls ( P = 0.001), and those with penile hypospadias, compared with either controls ( P = 0.003) or glanular and penoscrotal hypospadias combined ( P = 0.018). The frequency of cases with GGN 24 or more vs. GGN = 23, differed significantly among those with cryptorchidism (65/35%), compared with controls (31/54%) ( P = 0.012), and among subjects with penile hypospadias (69/31%), compared with either controls ( P = 0.035) or glanular or penoscrotal hypospadias combined (32/55%) ( P = 0.056). There were no significant differences in CAG lengths between the cases and controls. Our findings indicate an association between GGN length and the risk of cryptorchidism and penile hypospadias, both conditions considered consequences of low androgenicity.

Publiceringsår

2004

Språk

Engelska

Sidor

5105-5109

Publikation/Tidskrift/Serie

Journal of Clinical Endocrinology and Metabolism

Volym

89

Issue

10

Dokumenttyp

Artikel i tidskrift

Förlag

Oxford University Press

Ämne

  • Obstetrics, Gynecology and Reproductive Medicine

Status

Published

Forskningsgrupp

  • Reproductive medicine, Malmö

ISBN/ISSN/Övrigt

  • ISSN: 1945-7197