Sex rearing in individuals with 46,XY disorders of sex development prior to diagnosis
نویسندگان
چکیده
منابع مشابه
Sex rearing in individuals with 46,XY disorders of sex development prior to diagnosis
46,XY Disorders of Sex Development (DSD) has wide variations of clinical manifestations ranging from complete female, genitalia ambiguity, to complete male. Therefore the inviduals with this disorder can be reared as boys or girls. Most of Indonesian DSD cases are facing with budget constraint, because they require series of costly examinations and treatment. We aimed to know the distribution o...
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 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 کاملDisorders of Sex Development
The birth of a new baby is one of the most dramatic events in a family, and the first question is usually "is it a boy or a girl?" The newborn infant with ambiguous external genitalia often comes as a surprise for the doctors as well as the parents and is sometimes described as an endocrine emergency situation presenting a problem of sex assignment. The nomenclature such as 'intersex', 'hermaph...
متن کاملGenetic Screening of Iranian Patients with 46,XY Disorders of Sex Development
Background: Disorders of sex development (DSDs) belong to uncommon pathologies and result from abnormalities during gonadal determination and differentiation. Various gene mutations involved in gonadal determination and differentiation have been associated with gonadal dysgenesis. Despite advances in exploration of genes and mechanisms involved in sex disorders, most children with severe 46,XY ...
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ژورنال
عنوان ژورنال: International Journal of Pediatric Endocrinology
سال: 2013
ISSN: 1687-9856
DOI: 10.1186/1687-9856-2013-s1-p192