Unveiling the Significance of the Androgen Receptor Gene in Disorders of Sex Development
Advances in Human BiologyDisorders of sex development (DSD) encompass a range of congenital conditions where the development of chromosomal, gonadal or anatomical sex is atypical. There are many genes associated with DSD, and one of them is the androgen receptor (AR) gene, which
Ziske Maritska +5 more
doaj +1 more source
THE RISK FOR DEVELOPING TUMOR IN PATIENTS WITH GONADAL DYSGENESIS 46,XY
Бюллетень сибирской медицины, 2015 Disorders of sex development with Y chromosome material has been associated with a high risk for developing germ cell tumors such as gonadoblastoma or dysgerminoma.
O. Yu. Latyshev +5 more
doaj +1 more source
The Genetic and Environmental Sources of Resemblance Between Normative Personality and Personality Disorder Traits [PDF]
, 2017 Recent work has suggested a high level of congruence between normative personality, most typically represented by the big five factors, and abnormal personality traits.
Aggen, S. H. +8 more
core +2 more sources
Management framework paradigms for disorders of sex development
Archives of Endocrinology and Metabolism, 2015 Until 2005, questions regarding medical treatment and diagnostic information on Disorders of Sex Development (DSD) were not systematically discussed with both the patients and their families; however, the way these patients are currently treated have ...
Mariana Telles-Silveira +2 more
doaj +1 more source
Germ cell tumors in patients with disorders of sex development: Risk factors, initial developmental stages and targets for early diagnosis [PDF]
, 2006 This thesis describes the origin, identification and correct diagnosis of the earliest stages of malignant germ cell tumors, i.e. intra tubular germ cell neoplasia unclassified (ITGNU) and gonadoblastoma, in patients with disorders of sex development ...
Cools, M.B.C.M. (Martine)
core
Maternal immune activation and strain specific interactions in the development of autism-like behaviors in mice. [PDF]
, 2013 It is becoming increasingly apparent that the causes of autism spectrum disorders (ASD) are due to both genetic and environmental factors. Animal studies provide important translational models for elucidating specific genetic or environmental factors ...
Ashwood, P +5 more
core +2 more sources
Transverse testicular ectopia with disorders of sex development
Indian Journal of Urology, 2012 Transverse testicular ectopia (TTE) is a rare congenital anomaly. Although TTE often coexists with abnormalities such as inguinal hernia and persistent Mullerian duct syndrome, disorders of sex development (DSD) in combination with TTE is extremely rare.
Katsuya Aoki +3 more
doaj +1 more source
An assessment of the quality of the I-DSD and the I-CAH registries - international registries for rare conditions affecting sex development [PDF]
, 2017 With the proliferation of rare disease registries, there is a need for registries to undergo an assessment of their quality against agreed standards to ensure their long-term sustainability and acceptability.This study was performed to evaluate the I-DSD
Ahmed, S.F. +5 more
core +1 more source
Thyroid hormone receptors and ligand, tissue distribution and sexual behavior [PDF]
, 2018 The thyroid hormones (THs) triiodothyronine (T3) and tetraiodothyronine, or thyroxine (T4), not only dramatically impact on development and differentiation, but also on the sexual and reproductive function.
Carosa, E, Jannini, Ea, Lenzi, A
core +1 more source
Performance of mutation pathogenicity prediction tools on missense variants associated with 46,XY differences of sex development [PDF]
ClinicsOBJECTIVES: Single nucleotide variants (SNVs) are the most common type of genetic variation among humans. High-throughput sequencing methods have recently characterized millions of SNVs in several thousand individuals from various populations, most of ...
Luciana R. Montenegro +4 more
doaj +2 more sources