Disorders of sex development: challenges for the future [PDF]
, 2012 No abstract ...
Ahmed +14 more
core +1 more source
The "backdoor pathway" of androgen synthesis in human male sexual development. [PDF]
, 2019 Mammalian sex determination (male versus female) is largely controlled by genes, whereas sex differentiation (development of reproductive structures) is largely controlled by hormones. Work in the 20th century indicated that female external anatomy was a
Auchus, Richard J, Miller, Walter L
core +2 more sources
Imaging Evaluation of Disorders of Sex Development
Journal of Gastrointestinal and Abdominal Radiology, 2020 Disorders of sex development (DSD) refer to congenital conditions with a typical development of chromosomal, gonadal, or anatomic sex. In the revised classification of DSD, there are three categories based on karyotype: 46,XX DSD; 46,XY DSD; and sex ...
Anu Eapen +5 more
doaj +1 more source
Journal of Biomedicine and Translational Research, 2021 Background: Sex chromosomal Disorder of sex development (DSD) is an atypical abnormality of external genitalia which is mismatched with its sex chromosome traits. The condition of children with DSD affects the dynamics in the family.
Iit Fitrianingrum +3 more
doaj +1 more source
How often are clinicians performing genital exams in children with disorders of sex development? [PDF]
, 2017 Background: We sought to determine the frequency with which genital exams (GEs) are performed in children with disorders of sex development (DSD) and ambiguous genitalia (AG) during routine visits to the pediatric endocrine clinic.
Eugster, Erica A., Tica, Stefani S.
core +1 more source
A Qualitative Study of Communication between Young Women with Disorders of Sex Development and Health Professionals [PDF]
, 2015 Background and Objectives. Health communication is a critical aspect of care for both providers and recipients having a direct influence on engagement and outcomes.
Carter, Bernie, Sanders, Caroline
core +5 more sources
Clinical outcomes and genotype-phenotype correlations in patients with complete and partial androgen insensitivity syndromes [PDF]
Annals of Pediatric Endocrinology & Metabolism, 2023 Purpose Androgen insensitivity syndrome (AIS) is a rare X-linked recessive disorder caused by unresponsiveness to androgens because of mutations in the AR gene. Here, we investigated the clinical outcomes and molecular spectrum of AR variants in patients
Nae-yun Lee +6 more
doaj +1 more source
Understanding the needs of professionals who provide psychosocial care for children and adults with disorders of sex development [PDF]
, 2017 Objective: Disorders in sex development (DSD) can be treated well medically, but families will encounter many psychosocial challenges. Promoting counselling to facilitate acceptance and coping is important yet equality of access is unknown.
Ahmed, S. Faisal +12 more
core +7 more sources
Clinical Case Reports, 2018 Key Clinical Message We report an atypical disorders of sex development (DSD) case with no mutation of SYR gene but partial Yq deletion and partial duplication of Yp and Yq.
Qing‐Song Liu +4 more
doaj +1 more source
A novel pathogenic variant of SRD5A2 in an Iranian psuedohermaphrodite male
Clinical Case Reports, 2020 Deficiency of the 5‐alpha‐reductase may have an important role in 46,XY DSD in some cohorts. The prenatal ultrasonography and karyotyping can trigger the attention toward the presence of a DSD in fetus.
Setilla Dalili +4 more
doaj +1 more source