Functional characterization of novel NR5A1 variants reveals multiple complex roles in disorders of sex development

Functional characterization of novel NR5A1 variants reveals multiple complex roles in disorders of sex development

Variants in the NR5A1 gene encoding SF1 have been described in a diverse spectrum of disorders of sex development (DSD). Recently, we reported the use of a targeted gene panel for DSD where we identified 15 individuals with a variant in NR5A1, nine of which are novel. Here, we examine the functional effect of these changes in relation to the patient phenotype. All novel variants tested had redu...

The novel p.Cys65Tyr in NR5A1 gene in three siblings with 46,XY disorders of sex development

development of feminist poetics in adrienne rich

اشعار ریچ، به عنوان اشعاری که همیشه در حال تغییر و دگرگونی هستند، تجسمی از رشد و دگرگونیِ انسان هستد. پایان نامه ی حاضر، با تمرکز بر روی مراحل سیر شعری ریچ از تغییری در دنیا به عکس هایی فوری از یک عروس، سپس به شیرجه به درون کشتی شکسته و در نهایت به صبری عجیب مرا تا اینجا آورده، به بررسی این مراحل در قالب نظر شوالتر در رابطه با سه مرحله ی پیشرفت ادبی زنان یعنی مرحله ی زنانه، زن گرا و زن محور می پ...

Testosterone production during puberty in two 46,XY patients with disorders of sex development and novel NR5A1 (SF-1) mutations

BACKGROUND Steroidogenic factor 1 (SF-1, NR5A1) is a key transcriptional regulator of many genes involved in the hypothalamic-pituitary-gonadal axis and mutations in NR5A1 can result in 46,XY disorders of sex development (DSD). Patients with this condition typically present with ambiguous genitalia, partial gonadal dysgenesis, and absent/rudimentary Müllerian structures. In these cases, testost...

Surgical and functional outcomes of sigmoid vaginoplasty among patients with variants of disorders of sex development.

PURPOSE To assess the use of sigmoid colon in vaginal reconstruction of some patients with disorders of sex development. MATERIALS AND METHODS The study included 31 patients with disorders of sex development of various causes. All were reared as females. Female gender was decided for all cases after complete medical assessment. All patients underwent sigmoid vaginoplasty. Assessment of surgic...