Genetics in endocrinology: approaches to molecular genetic diagnosis in the management of differences/disorders of sex development (DSD): position paper of EU …
The differential diagnosis of differences or disorders of sex development (DSD) belongs to
the most complex fields in medicine. It requires a multidisciplinary team conducting a …
the most complex fields in medicine. It requires a multidisciplinary team conducting a …
Establishing a molecular genetic diagnosis in children with differences of sex development: a clinical approach
MA O'Connell, G Atlas, K Ayers, A Sinclair - Hormone Research in …, 2023 - karger.com
Background: Despite distinct underlying aetiologies, the clinical phenotypes and hormonal
profiles of children with various differences of sex development (DSD) are often similar …
profiles of children with various differences of sex development (DSD) are often similar …
Prenatal ultrasound finding of atypical genitalia: Counseling, genetic testing and outcomes
Y van Bever, IAL Groenenberg… - Prenatal …, 2023 - Wiley Online Library
Objective To report uptake of genetic counseling (GC) and prenatal genetic testing after the
finding of atypical genitalia on prenatal ultrasound (US) and the clinical and genetic findings …
finding of atypical genitalia on prenatal ultrasound (US) and the clinical and genetic findings …
Clinical, biochemical, and molecular characterization of Indian children with clinically suspected androgen insensitivity syndrome
This study describes the clinical, biochemical, and molecular characteristics of Indian
children with 46, XY DSD and suspected androgen insensitivity syndrome (AIS). Fifty …
children with 46, XY DSD and suspected androgen insensitivity syndrome (AIS). Fifty …
Ambiguous genitalia in newborns
S Krishnan, AB Wisniewski - Genetic Steroid Disorders, 2014 - Elsevier
Ambiguous genitalia can be associated with disorders of sex development (DSD). DSD
occurs when a person is born with discordant genetic, gonadal, or anatomic sex. Here we …
occurs when a person is born with discordant genetic, gonadal, or anatomic sex. Here we …
Disorders of sexual development with XY karyotype and female phenotype: clinical findings and genetic background in a cohort from a single centre
G Costagliola, M Cosci O di Coscio, B Masini… - Journal of …, 2021 - Springer
Purpose 46, XY disorders (or differences) of sex development (DSD) are a group of clinical
conditions with variable genetic background; correct diagnosis is often difficult, but it permits …
conditions with variable genetic background; correct diagnosis is often difficult, but it permits …
Under-reported aspects of diagnosis and treatment addressed in the Dutch-Flemish guideline for comprehensive diagnostics in disorders/differences of sex …
Y Van Bever, HT Brüggenwirth… - Journal of medical …, 2020 - jmg.bmj.com
We present key points from the updated Dutch-Flemish guideline on comprehensive
diagnostics in disorders/differences of sex development (DSD) that have not been widely …
diagnostics in disorders/differences of sex development (DSD) that have not been widely …
Prenatal Features of MIRAGE Syndrome—Case Report and Review of the Literature
MIRAGE syndrome is a recently described congenital condition characterized genetically by
heterozygous gain-of-function missense mutations in the growth repressor sterile alpha …
heterozygous gain-of-function missense mutations in the growth repressor sterile alpha …
SEC31A may be associated with pituitary hormone deficiency and gonadal dysgenesis
ES Tobias, AK Lucas-Herald, D Sagar, AC Montezano… - Endocrine, 2024 - Springer
Purpose Disorders/differences of sex development (DSD) result from variants in many
different human genes but, frequently, have no detectable molecular cause. Methods …
different human genes but, frequently, have no detectable molecular cause. Methods …
Approaches to molecular genetic diagnosis in the management of differences/disorders of sex development (DSD): position paper of EU COST Action BM 1303 ' …
The differential diagnosis of differences or disorders of sex development (DSD) belongs to
the most complex fields in medicine. It requires a multidisciplinary team conducting a …
the most complex fields in medicine. It requires a multidisciplinary team conducting a …