The use of genetics for reaching a diagnosis in XY DSD
Reaching a firm diagnosis is vital for the long-term management of a patient with a
difference or disorder of sex development (DSD). This is especially the case in XY DSD …
difference or disorder of sex development (DSD). This is especially the case in XY DSD …
Variants of STAR, AMH and ZFPM2/FOG2 May Contribute towards the Broad Phenotype Observed in 46,XY DSD Patients with Heterozygous Variants of NR5A1
I Martínez de LaPiscina, RAA Mahmoud… - International journal of …, 2020 - mdpi.com
Variants of NR5A1 are often found in individuals with 46, XY disorders of sex development
(DSD) and manifest with a very broad spectrum of clinical characteristics and variable sex …
(DSD) and manifest with a very broad spectrum of clinical characteristics and variable sex …
Phenotype and genetic characteristics in 20 Chinese patients with 46, XY disorders of sex development
GY Zheng, GM Chu, PP Li, R He - Journal of Endocrinological …, 2023 - Springer
Purpose 46, XY disorders of sex development (DSD) is the most complicated and common
type of DSD. To date, more than 30 genes have been identified associated with 46, XY DSD …
type of DSD. To date, more than 30 genes have been identified associated with 46, XY DSD …
A novel c.64G > T (p.G22C) NR5A1 variant in a Chinese adolescent with 46,XY disorders of sex development: a case report
D Zhang, D Wang, Y Tong, M Li, L Meng, Q Song, Y Xin - BMC pediatrics, 2023 - Springer
Background Adolescents with 46, XY disorders of sex development (DSD) face additional
medical and psychological challenges. To optimize management and minimize hazards …
medical and psychological challenges. To optimize management and minimize hazards …
[PDF][PDF] A novel c. 64G> T (p. G22C) NR5A1 mutation in a Chinese adolescent with 46, XY disorders of sex development: a case report
D Zhang, D Wang, Y Tong, M Li, L Meng, Q Song, Y Xin - 2022 - scholar.archive.org
A novel c.64G>T (p.G22C) NR5A1 mutation in a Chinese adolescent with 46, XY disorders of
sex development: a case report Page 1 Page 1/15 A novel c.64G>T (p.G22C) NR5A1 mutation …
sex development: a case report Page 1 Page 1/15 A novel c.64G>T (p.G22C) NR5A1 mutation …
[PDF][PDF] GONADAL GELİŞİM BOZUKLUKLARI
E MENGEN, Z ŞIKLAR - CİNSİYET GELİŞİM BOZUKLUKLARI … - cocukendokrindiyabet.org
Gonadal gelişim bozuklukları, cinsiyet gelişim bozukluklarının (CGB) önemli bir kısmını
oluşturan, klinik ve laboratuvar olarak heterojen bulgulara sahip cinsiyet belirlenme (sex …
oluşturan, klinik ve laboratuvar olarak heterojen bulgulara sahip cinsiyet belirlenme (sex …
Heterozygous variant in NR5A1 gene as a monogenic form of gonadal dysgenesis: a case report
A Gambadauro, G Pepe, C Casto… - Atti della Accademia …, 2021 - cab.unime.it
NR5A1 gene mutations are associated principally to 46, XY DSD (Disorders of Sex
Development), with an extensive range of phenotypic variability in patients, comprising …
Development), with an extensive range of phenotypic variability in patients, comprising …
[PDF][PDF] Unveiling the 46, XY disorder of sex development patients family with a novel mutation in the GATA4 gene
L Li, H Yang, J Zhang, H Lv, Q Li, Y Cui, T Wu, Y Tian… - 2021 - scholar.archive.org
Background GATA-binding protein 4 (GATA4) is the critical regulator in gonadal
development and its mutation has been reported related with 46, XY disorder of sex …
development and its mutation has been reported related with 46, XY disorder of sex …