Mouse models of human disorders of sex development (DSD)
نویسندگان
چکیده
منابع مشابه
The surgical challenges of disorders of sex development (DSD).
Disorders of Sex Development (DSD) remain a fascinating challenge for the paediatricians, endocrinologists, biologists, psychiatrists, geneticists, radiologists, surgeons and for the whole society. This article aims at highlighting the current controversies and questions met with genital reconstruction in children born with abnormal genitalia. The main current techniques of masculinization and ...
متن کاملRadiological imaging of disorders of sex development (DSD).
The birth of a child with ambiguous genitalia is a matter of a medical and social emergency to decide the appropriate sex rearing and eventually to prevent the associated metabolic disturbances. It must be taken with immediacy and great sensitivity. The pediatric endocrinologist should share the care with a team consists of a pediatric urologist, or surgeon, a pediatric radiologist, geneticist ...
متن کاملDisorders of sex development (DSD): an overview of recent scientific advances
Developments in biotechnology have radically altered clinical and research themes in the small field of disorders of sex development, as in other rare medical conditions. In the age of genetics, an increasing number of DSDs have been identified. Aided by larger populations of people with DSD diagnoses attending specialist centres, these discoveries are enabling medical doctors and scientists to...
متن کاملNew Technologies for the Identification of Novel Genetic Markers of Disorders of Sex Development (DSD)
Although the genetic basis of human sexual determination and differentiation has advanced considerably in recent years, the fact remains that in most subjects with disorders of sex development (DSD) the underlying genetic cause is unknown. Where pathogenic mutations have been identified, the phenotype can be highly variable, even within families, suggesting that other genetic variants are influ...
متن کاملEtiologies of 46,XY disorders of sex development (DSD): a collaborative study in Hong Kong
Disorders of sex development (DSD) are defined as congenital conditions in which development of chromosomal, gonadal or anatomical sex is atypical. In 46, XY DSD, the genotype is XY, but the external genitalia is incompletely virilised, ambiguous, or completely female. The objectives of this prospective study are to evaluate the testicular Sertoli and Leydig cell functions, to establish the gen...
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ژورنال
عنوان ژورنال: Mechanisms of Development
سال: 2017
ISSN: 0925-4773
DOI: 10.1016/j.mod.2017.04.417