Whole-Exome Sequencing Identified Rare Genetic Variants Associated with Undervirilized Genitalia in Taiwanese Pediatric Patients
MC Tsai, YH Weng, YF Lin, YC Wang, HW Yu… - Biomedicines, 2023 - mdpi.com
Disorders/differences of sex development (DSDs) are a group of rare and phenotypically
variable diseases. The underlying genetic causes of most cases of 46XY DSDs remains …
variable diseases. The underlying genetic causes of most cases of 46XY DSDs remains …
[HTML][HTML] Genetic screening of Iranian patients with 46, XY disorders of sex development
A Shojaei, R Ebrahimzadeh-Vesal… - … of biochemistry & …, 2017 - ncbi.nlm.nih.gov
Background: Disorders of sex development (DSDs) belong to uncommon pathologies and
result from abnormalities during gonadal determination and differentiation. Various gene …
result from abnormalities during gonadal determination and differentiation. Various gene …
Next generation sequencing (NGS) to improve the diagnosis and management of patients with disorders of sex development (DSD)
LA Hughes, K McKay-Bounford, EA Webb… - Endocrine …, 2019 - ec.bioscientifica.com
Disorders of sex development (DSDs) are a diverse group of conditions where the
chromosomal, gonadal or anatomical sex can be atypical. The highly heterogeneous nature …
chromosomal, gonadal or anatomical sex can be atypical. The highly heterogeneous nature …
46, XY disorders of sex development (DSD)
The term disorders of sex development (DSD) includes congenital conditions in which
development of chromosomal, gonadal or anatomical sex is atypical. Mutations in genes …
development of chromosomal, gonadal or anatomical sex is atypical. Mutations in genes …
Clinical spectrum of disorders of sex development: A cross-sectional observational study
SA Dar, M Nazir, R Lone, D Sameen… - Indian journal of …, 2018 - journals.lww.com
Objective: Disorders of sex development (DSD) constitutes a small but difficult and equally
important area of endocrinology. It is often a social emergency as the decision regarding sex …
important area of endocrinology. It is often a social emergency as the decision regarding sex …
Identification of a Novel Variant in Myelin Regulatory Growth Factor by Next-Generation Sequencing Led to the Detection of a Clinically Inapparent Congenital Heart …
L Correa Brito, RP Grinspon, J Lopez Dacal… - Journal of Personalized …, 2023 - mdpi.com
In patients with 46, XY disorders of sex development (DSDs), next-generation sequencing
(NGS) has high diagnostic efficiency. One contribution to this diagnostic approach is the …
(NGS) has high diagnostic efficiency. One contribution to this diagnostic approach is the …
Characteristics and possible mechanisms of 46, XY differences in sex development caused by novel compound variants in NR5A1 and MAP3K1
Y Cheng, J Chen, X Zhou, J Yang, Y Ji, C Xu - Orphanet Journal of Rare …, 2021 - Springer
Background Dozens of genes are involved in 46, XY differences in sex development (DSD).
Notably, about 3/4 of patients cannot make a clear etiology diagnosis and single gene …
Notably, about 3/4 of patients cannot make a clear etiology diagnosis and single gene …
The clinical and genetic heterogeneity of mixed gonadal dysgenesis: does “disorders of sexual development (DSD)” classification based on new Chicago consensus …
G Öcal, M Berberoğlu, Z Şıklar, HI Ruhi… - European journal of …, 2012 - Springer
Clinical findings illustrate the wide spectrum of the phenotypic manifestations of 45, X/46, XY
mosaicism in the sex chromosome disorders of sex differentiation (DSD). The objective of …
mosaicism in the sex chromosome disorders of sex differentiation (DSD). The objective of …
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 sex development: neonatal diagnosis and management
F Paris, L Gaspari, P Philibert, L Maïmoun… - Pediatric and …, 2012 - karger.com
The disorders of sex development (DSD) refer to the insufficient virilization of the external
genitalia of a 46, XY fetus or the excessive virilization of those of the 46, XX fetus. Some of …
genitalia of a 46, XY fetus or the excessive virilization of those of the 46, XX fetus. Some of …