Despite being collectively among the most frequent congenital developmental conditions
worldwide, differences of sex development (DSD) lack recognition and research funding. As …

Disorders (or differences) of sex development (DSD) are a heterogeneous group of
congenital conditions with variations in chromosomal, gonadal, or anatomical sex. Impaired …

Background and objectives: XX male syndrome is part of the disorders of sex development
(DSD). The patients generally have normal external genitalia and discover their pathology in …

As with many other diseases, genetic testing in human azoospermia was initially restricted to
karyotype analyses (leading to diagnostic chromosome rearrangement tests for Klinefelter …

Development-Translational Research Network (DSD-TRN) guidelines for standardization of
reporting and practice is the current lack of integration of the standardized clinical forms into …

Background To review the possible mechanisms proposed to explain the etiology of 46, XX
sex reversal by investigating the clinical characteristics and their relationships with …

Cell‐free DNA (cfDNA) testing is increasingly being used to screen pregnant women for fetal
aneuploidies. This technology may also identify fetal sex and can be used to screen for sex …

In two independent ongoing next-generation sequencing projects for individuals with
holoprosencephaly and individuals with disorders of sex development, and through …

Differences in sex development (DSD) in patients with 46, XX karyotype occur by foetal or
postnatal exposure to an increased amount of androgens. These disorders are usually …

Molecular diagnosis is rarely established in 46, XX testicular (T) disorder of sex
development (DSD) individuals with atypical genitalia. The Wilms' tumour factor‐1 (WT1) …