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 …
5-α-Reductase type 2 deficiency: is there a genotype-phenotype correlation? A review
A Avendaño, I Paradisi, F Cammarata-Scalisi, M Callea - Hormones, 2018 - Springer
α-Reductase type 2 enzyme catalyzes the conversion of testosterone into
dihydrotestosterone, a potent androgen responsible for male sexual development during the …
dihydrotestosterone, a potent androgen responsible for male sexual development during the …
Ten Novel Mutations in the NR5A1 Gene Cause Disordered Sex Development in 46,XY and Ovarian Insufficiency in 46,XX Individuals
N Camats, AV Pandey… - The Journal of …, 2012 - academic.oup.com
Abstract Context: Steroidogenic factor-1 (SF-1/NR5A1) is a nuclear receptor that regulates
adrenal and reproductive development and function. NR5A1 mutations have been detected …
adrenal and reproductive development and function. NR5A1 mutations have been detected …
Androgen insensitivity syndrome
N Mendoza, MA Motos - Gynecological Endocrinology, 2013 - Taylor & Francis
Androgen insensitivity syndrome (AIS) is a disorder caused by a mutation of the gene
encoding the androgen receptor (AR; Xq11–q12). The prevalence of AIS has been …
encoding the androgen receptor (AR; Xq11–q12). The prevalence of AIS has been …
AR and SRD5A2 gene mutations in a series of 51 Turkish 46,XY DSD children with a clinical diagnosis of androgen insensitivity
Summary 46, XY disorders of sex development (DSD) are caused by disorders of gonadal
development, androgen biosynthesis and receptor (AR) defects. Although …
development, androgen biosynthesis and receptor (AR) defects. Although …
Phenotype and molecular characteristics in 45 Chinese children with 5α‐reductase type 2 deficiency from South China
J Cheng, R Lin, W Zhang, G Liu, H Sheng… - Clinical …, 2015 - Wiley Online Library
Context Affected by steroid 5α‐reductase type 2 deficiency (5α‐RD 2), 46, XY individuals
present divergent phenotypes characterized by undervirilization of male external genitalia …
present divergent phenotypes characterized by undervirilization of male external genitalia …
Mechanism of the dual activities of human CYP17A1 and binding to anti-prostate cancer drug abiraterone revealed by a novel V366M mutation causing 17, 20 lyase …
M Fernández-Cancio, N Camats, CE Flück, A Zalewski… - Pharmaceuticals, 2018 - mdpi.com
The CYP17A1 gene regulates sex steroid biosynthesis in humans through 17α-
hydroxylase/17, 20 lyase activities and is a target of anti-prostate cancer drug abiraterone. In …
hydroxylase/17, 20 lyase activities and is a target of anti-prostate cancer drug abiraterone. In …
Update on disorders of sex development
CP Houk, PA Lee - Current Opinion in Endocrinology, Diabetes …, 2012 - journals.lww.com
Although genetic research continues to define new and multigenetic factors involved in the
development of DSD, this review of the medical literature also underscores the fact that …
development of DSD, this review of the medical literature also underscores the fact that …
Screening for mutations in 17β-hydroxysteroid dehydrogenase and androgen receptor in women presenting with partially virilised 46, XY disorders of sex …
N Phelan, EL Williams, S Cardamone… - European journal of …, 2015 - academic.oup.com
Context and objective The precise diagnosis of partially virilised women with 46, XY
disorders of sex development (DSD) is often obscure. In practice, this group often comes …
disorders of sex development (DSD) is often obscure. In practice, this group often comes …
Phenotypic and molecular characteristics in eleven C hinese patients with 5α‐reductase T ype 2 deficiency
H Zhu, W Liu, B Han, M Fan, S Zhao… - Clinical …, 2014 - Wiley Online Library
Context Steroid 5α‐reductase type 2 deficiency (5α‐RD 2) is a male‐limited, autosomal
recessive inherited disease. Affected 46, XY individuals usually present with ambiguous …
recessive inherited disease. Affected 46, XY individuals usually present with ambiguous …