Androgen receptor defects: historical, clinical, and molecular perspectives

CA Quigley, A De Bellis, KB Marschke… - Endocrine …, 1995 - academic.oup.com
I. Introduction IN 1953 lohn Morris, an obstetrician at Yale University, reported a series of 82
individuals (80 cases collated from the literature and two cases of his own) who had a …

Androgen receptor: an overview

C Chang, A Saltzman, S Yeh, W Young… - Critical Reviews™ in …, 1995 - dl.begellhouse.com
The action of androgens in regulating development and growth is mediated by androgen
receptor (AR). AR is a member of the steroid hormone receptor superfamily, a class of …

Clinical, hormonal, behavioral, and genetic characteristics of androgen insensitivity syndrome in a Brazilian cohort: five novel mutations in the androgen receptor gene

KFS Melo, BB Mendonca, AEC Billerbeck… - The Journal of …, 2003 - academic.oup.com
Androgen insensitivity syndrome (AIS) is caused by mutations in the androgen receptor
gene and is associated with a variety of phenotypes in 46, XY individuals, ranging from …

A practical guide for evaluating gonadal germ cell tumor predisposition in differences of sex development

LC Pyle, KL Nathanson - … Journal of Medical Genetics Part C …, 2017 - Wiley Online Library
Differences of Sex Development (DSD) includes a wide spectrum of etiologies and
phenotypes. A subset of individuals with DSDs are predisposed to gonadal germ cell tumor …

Androgen receptor‐related diseases: what do we know?

GC Shukla, AR Plaga, E Shankar, S Gupta - Andrology, 2016 - Wiley Online Library
The androgen receptor (AR) and the androgen–AR signaling pathway play a significant role
in male sexual differentiation and the development and function of male reproductive and …

Molecular biology of androgen insensitivity

J Jääskeläinen - Molecular and cellular endocrinology, 2012 - Elsevier
Androgen insensitivity syndrome (AIS) is the most common specific cause of 46, XY disorder
in sex development. The androgen signaling pathway is complex but so far, the only gene …

Cryptorchidism: diagnosis, treatment, and long-term prognosis

TF Kolon, RP Patel, DS Huff - Urologic Clinics, 2004 - urologic.theclinics.com
Cryptorchidism or an undescended testis is the most common disorder of the male
endocrine glands in children. One third of boys with true cryptorchidism have bilaterally …

Functional assessment and clinical classification of androgen sensitivity in patients with mutations of the androgen receptor gene

GHG Sinnecker, O Hiort, EM Nitsche… - European journal of …, 1996 - Springer
In the genetic male, mutations of the androgen receptor (AR) gene cause phenotypes
ranging from female to subfertile male. Binding assays on genital skin fibroblasts and DNA …

[HTML][HTML] Androgen physiology: receptor and metabolic disorders

IJ McEwan, AO Brinkmann - Endotext [Internet], 2021 - ncbi.nlm.nih.gov
Androgens are an important class of C19 steroid hormones that control normal male
development and reproductive function. The main circulating androgen is testosterone …

Androgen receptor gene mutations are rarely associated with isolated penile hypospadias

RW Sutherland, JS Wiener, JP Hicks… - The Journal of …, 1996 - auajournals.org
Purpose: Hypospadias has no known single etiology but it has been linked to androgen
insensitivity caused by mutations of the androgen receptor gene. The purpose of this study …