Micropenis and the AR gene: mutation and CAG repeat-length analysis

T Ishii, S Sato, K Kosaki, G Sasaki… - The Journal of …, 2001 - academic.oup.com
Various mutations of the AR gene and expanded CAG repeats at exon 1 of that gene have
been reported in patients with hypospadias or genital ambiguity. However, the role of the AR …

Undermasculinized genitalia in a boy with an abnormally expanded CAG repeat length in the androgen receptor gene

T Ogata, K Muroya, T Ishii, Y Suzuki… - Clinical …, 2001 - Wiley Online Library
We report an 11‐year‐old boy with undermasculinized genitalia and an abnormally
expanded CAG repeat length at exon 1 of the androgen receptor (AR) gene. He had …

Hypospadias and the androgen receptor gene: mutation screening and CAG repeat length analysis

K Muroya, I Sasagawa, Y Suzuki… - Molecular human …, 2001 - academic.oup.com
We report on mutation screening and CAG repeat length analysis of the androgen receptor
(AR) gene in 21 patients with hypospadias. The urethral meatus was located at the …

Isolated 'idiopathic'micropenis: hidden genetic defects?

F Paris, K De Ferran, A Bhangoo, S Ten… - … Journal of Andrology, 2011 - Wiley Online Library
Micropenis is defined as a stretched penile length of less than 2–2.5 SD for age. Aetiologies
include hypogonadotropic hypogonadism, testicular dysgenesis, defects in testosterone …

Mutations of the androgen receptor gene identified in perineal hypospadias.

JA Batch, BA Evans, IA Hughes… - Journal of medical …, 1993 - jmg.bmj.com
Hypospadias is a common urological abnormality and may occur in simple (glandular or
penile) or severe forms (perineal). Perineal hypospadias often occurs in association with …

[HTML][HTML] Isolated micropenis reveals partial androgen insensitivity syndrome confirmed by molecular analysis

A Bhangoo, F Paris, P Philibert, F Audran… - Asian Journal of …, 2010 - ncbi.nlm.nih.gov
Partial androgen insensitivity syndrome (PAIS) is the milder variant of androgen receptor
(AR) defects. The subtle effects of AR mutations present in a patient with micropenis, peno …

Mutation analysis of five candidate genes in Chinese patients with hypospadias

Y Wang, Q Li, J Xu, Q Liu, W Wang, Y Lin… - European Journal of …, 2004 - nature.com
Hypospadias is the displacement of the urethral meatus from the tip of the glans to the
ventral side of the phallus. During fetal development, SRY, SOX9, WT1, SRD5A2 and AR …

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

EL Aschim, A Nordenskjöld… - The Journal of …, 2004 - academic.oup.com
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 …

Evidence for epigenetic abnormalities of the androgen receptor gene in foreskin from children with hypospadias

A Vottero, R Minari, I Viani, F Tassi… - The Journal of …, 2011 - academic.oup.com
Context: Hypospadias is a malformation of the penis due to an incomplete development of
the male urethra, the exact etiology of which in the majority of cases remains unknown …

The CAG repeat within the androgen receptor gene and its relationship to cryptorchidism

M Silva-Ramos, JM Oliveira, JM Cabeda… - International braz j …, 2006 - SciELO Brasil
PURPOSE: We examined the significance of the CAG repeat polymorphism in the
pathogenesis of cryptorchidism. MATERIALS AND METHODS: Genomic deoxyribonucleic …