Genetic control of typical and atypical sex development
Sex development relies on the sex-specific action of gene networks to differentiate the
bipotential gonads of the growing fetus into testis or ovaries, followed by the differentiation of …
bipotential gonads of the growing fetus into testis or ovaries, followed by the differentiation of …
[HTML][HTML] Clinical and genetic characteristics of a large international cohort of individuals with rare NR5A1/SF-1 variants of sex development
C Kouri, G Sommer, IM de Lapiscina, RN Elzenaty… - …, 2024 - thelancet.com
Summary Background Steroidogenic factor 1 (SF-1/NR5A1) is essential for human sex
development. Heterozygous NR5A1/SF-1 variants manifest with a broad range of …
development. Heterozygous NR5A1/SF-1 variants manifest with a broad range of …
Application and insights of targeted next-generation sequencing in a large cohort of 46, XY disorders of sex development in Chinese
H Chen, G Chen, F Li, Y Huang, L Zhu, Y Zhao… - Biology of Sex …, 2024 - Springer
Purpose 46, XY disorders of sex development (46, XY DSD) are characterized by
incomplete masculinization of genitalia with reduced androgenization. Accurate clinical …
incomplete masculinization of genitalia with reduced androgenization. Accurate clinical …
Custom exome panel revealed new mutations in MAPK14 and novel mutation in RUNX2 gene in patients with PCOS
Y Arikan, T Onat - Scientific Reports, 2025 - nature.com
Polycystic ovary syndrome (PCOS) is the most common endocrinopathy and is both
phenotypically and genotypically heterogeneous. A large number of genetic variants have …
phenotypically and genotypically heterogeneous. A large number of genetic variants have …
[PDF][PDF] DETERMINE OF MTHFR (rs1801133) SINGLE NUCLEOTIDE POLYMORPHISM GENE VARIATION IN DISORDERS OF SEX DEVELOPMENT PATIENTS.
M Kaur, NK Singh, S Choudhary… - Biochemical & Cellular …, 2024 - researchgate.net
A diverse collection of congenital disorders influencing chromosomal, gonadal, or
anatomical sex traits is known as disorders of sex development (DSD). These conditions …
anatomical sex traits is known as disorders of sex development (DSD). These conditions …