Androgen insensitivity syndrome

IA Hughes, JD Davies, TI Bunch, V Pasterski… - The Lancet, 2012 - thelancet.com
Androgen insensitivity syndrome in its complete form is a disorder of hormone resistance
characterised by a female phenotype in an individual with an XY karyotype and testes …

The genetic and environmental factors underlying hypospadias

A Bouty, KL Ayers, A Pask, Y Heloury… - Sexual Development, 2016 - karger.com
Hypospadias results from a failure of urethral closure in the male phallus and affects 1 in
200-300 boys. It is thought to be due to a combination of genetic and environmental factors …

Evolutionary differentiation of androgen receptor is responsible for sexual characteristic development in a teleost fish

Y Ogino, S Ansai, E Watanabe, M Yasugi… - Nature …, 2023 - nature.com
Teleost fishes exhibit complex sexual characteristics in response to androgens, such as fin
enlargement and courtship display. However, the molecular mechanisms underlying their …

Aetiology of hypospadias: a systematic review of genes and environment

LFM Van der Zanden, I Van Rooij… - Human reproduction …, 2012 - academic.oup.com
BACKGROUND Hypospadias is a common congenital malformation of the male external
genitalia. Most cases have an unknown aetiology, which is probably a mix of monogenic …

Management of disorders of sex development

O Hiort, W Birnbaum, L Marshall, L Wünsch… - Nature Reviews …, 2014 - nature.com
The medical term disorders of sex development (DSDs) is used to describe individuals with
an atypical composition of chromosomal, gonadal and phenotypic sex, which leads to …

[HTML][HTML] Testicular cancer and cryptorchidism

L Ferguson, AI Agoulnik - Frontiers in endocrinology, 2013 - frontiersin.org
The failure of testicular descent or cryptorchidism is the most common defect in newborn
boys. The descent of the testes during development is controlled by insulin-like 3 peptide …

Molecular mechanisms of external genitalia development

SD Blaschko, GR Cunha, LS Baskin - Differentiation, 2012 - Elsevier
External genitalia development occurs through a combination of hormone independent,
hormone dependent, and endocrine pathways. Perturbation of these pathways can lead to …

[HTML][HTML] Androgens and mammalian male reproductive tract development

A Murashima, S Kishigami, A Thomson… - Biochimica et Biophysica …, 2015 - Elsevier
One of the main functions of androgen is in the sexually dimorphic development of the male
reproductive tissues. During embryogenesis, androgen determines the morphogenesis of …

Timing of androgen receptor disruption and estrogen exposure underlies a spectrum of congenital penile anomalies

Z Zheng, BA Armfield, MJ Cohn - Proceedings of the …, 2015 - National Acad Sciences
Congenital penile anomalies (CPAs) are among the most common human birth defects.
Reports of CPAs, which include hypospadias, chordee, micropenis, and ambiguous …

The differential role of androgens in early human sex development

O Hiort - BMC medicine, 2013 - Springer
Sexual development in humans is only partly understood at the molecular level. It is
dependent on genetic control primarily induced by the sex chromosomal differences …