Testosterone production during puberty in two 46,XY patients with disorders of sex development and novel NR5A1 (SF-1) mutations
نویسندگان
چکیده
منابع مشابه
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...
متن کاملFailure of SOX9 Regulation in 46XY Disorders of Sex Development with SRY, SOX9 and SF1 Mutations
BACKGROUND In human embryogenesis, loss of SRY (sex determining region on Y), SOX9 (SRY-related HMG box 9) or SF1 (steroidogenic factor 1) function causes disorders of sex development (DSD). A defining event of vertebrate sex determination is male-specific upregulation and maintenance of SOX9 expression in gonadal pre-Sertoli cells, which is preceded by transient SRY expression in mammals. In m...
متن کاملBehavioural Problems in Children with 46XY Disorders of Sex Development
The aim of this study is to determine the behavioural problems of children with 46XY disorders of sex development (DSD) with genital ambiguity and to identify the risk factors that may influence behaviour. The 27 participants (aged 6-18 years) consisted of 21 patients raised as boys and 6 patients raised as girls. Control data were obtained from a representative sibling of each patient who was ...
متن کاملSteroidogenic Factor-1 (SF-1, NR5A1) and 46,XX Ovotesticular Disorders of Sex Development: One Factor, Many Phenotypes
Gerard Conway, a colleague at the adult DSD clinic at UCLH, recently said: “If the phenotype doesn’t make sense, think of SF-1.” This may not always be true, but steroidogenic factor-1 (SF-1/NR5A1)-related phenotypes have expanded greatly in recent years, and the report of Swartz et al. [1] in this issue of Hormone Research in Paediatrics adds to the emerging picture. SF-1 (officially known as ...
متن کاملSteroidogenic factor-1 (SF-1, Ad4BP, NR5A1) and disorders of testis development.
Steroidogenic factor-1 (SF-1) (Ad4BP, NR5A1) is a nuclear receptor that regulates many aspects of adrenal and reproductive development and function. Consequently, deletion of the gene (Nr5a1) encoding Sf-1 in XY mice results in impaired adrenal development, complete testicular dysgenesis with Mullerian structures, and female external genitalia. Initial efforts to identify NR5A1 changes in human...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: European Journal of Endocrinology
سال: 2012
ISSN: 0804-4643,1479-683X
DOI: 10.1530/eje-11-0944