[HTML][HTML] Androgen insensitivity syndrome: a review

RL Batista, EMF Costa, AS Rodrigues… - … of endocrinology and …, 2018 - SciELO Brasil
Androgenic insensitivity syndrome is the most common cause of disorders of sexual
differentiation in 46, XY individuals. It results from alterations in the androgen receptor gene …

Management of 46, XY differences/disorders of sex development (DSD) throughout life

AB Wisniewski, RL Batista, EMF Costa… - Endocrine …, 2019 - academic.oup.com
Differences/disorders of sex development (DSD) are a heterogeneous group of congenital
conditions that result in discordance between an individual's sex chromosomes, gonads …

Why boys will be boys: two pathways of fetal testicular androgen biosynthesis are needed for male sexual differentiation

CE Flück, M Meyer-Böni, AV Pandey, P Kempná… - The American Journal of …, 2011 - cell.com
Human sexual determination is initiated by a cascade of genes that lead to the development
of the fetal gonad. Whereas development of the female external genitalia does not require …

Sexual developmental disorders in pediatrics

G Profeta, G Micangeli, F Tarani… - La Clinica …, 2022 - clinicaterapeutica.it
Disorders of sex development (DSD) are a heterogeneous group of pathologies that result in
an alteration in sex determination or differentiation. DSD are estimated to affect 1: 4,500 …

Satisfaction with genital surgery and sexual life of adults with XY disorders of sex development: results from the German clinical evaluation study

B Köhler, E Kleinemeier, A Lux, O Hiort… - The Journal of …, 2012 - academic.oup.com
Background: Prenatal deficit of androgens or androgen action results in atypical genitalia in
individuals with XY disorders of sex development (XY, DSD). XY, DSD include mainly …

Tumor risk in disorders of sex development

J Pleskacova, R Hersmus, JW Oosterhuis… - Sexual …, 2010 - karger.com
Certain patients with disorders of sex development (DSD), who bear Y chromosome material
in their karyotype, are at increased risk for the development of type II germ cell tumors (GCT) …

Different clinical presentations and management in complete androgen insensitivity syndrome (CAIS)

L Lanciotti, M Cofini, A Leonardi, M Bertozzi… - International journal of …, 2019 - mdpi.com
Complete androgen insensitivity syndrome (CAIS) is an X-linked recessive genetic disorder
resulting from maternally inherited or de novo mutations involving the androgen receptor …

Gender identity, gender assignment and reassignment in individuals with disorders of sex development: a major of dilemma

AD Fisher, J Ristori, E Fanni, G Castellini… - Journal of …, 2016 - Springer
Abstract Introduction Disorders of Sex Development (DSD) are a wide range of congenital
conditions characterized by an incongruence of components involved in sexual …

46, XY disorder of sex development (DSD) due to 17β-hydroxysteroid dehydrogenase type 3 deficiency

BB Mendonca, NL Gomes, EMF Costa, M Inacio… - The Journal of Steroid …, 2017 - Elsevier
Abstract 17β-hydroxysteroid dehydrogenase 3 deficiency consists of a defect in the last
phase of steroidogenesis, in which androstenedione is converted into testosterone and …

Sox10 gain-of-function causes XX sex reversal in mice: implications for human 22q-linked disorders of sex development

JC Polanco, D Wilhelm, TL Davidson… - Human molecular …, 2010 - academic.oup.com
Male development in mammals is normally initiated by the Y-linked gene Sry, which
activates expression of Sox9, leading to a cascade of gene activity required for testis …