Clinical, hormonal and chromosomal analysis of undervirilized male/46XY DSD – a 3years experience of national institute of child health
نویسندگان
چکیده
Methodology This study was conducted in National Institute of Child Health at Department of Pediatrics, Division of Endocrinology from January 2008 to December 2010. A Total of 127 Patient under age of 14 years with ambiguity, micropenis, hypospadias, cryptorchism and delayed puberty were selected and studied.USG Pelvis, HCG Stimulation test and Chromosomal analysis were carried out in all patients. Two types of HCG stimulation test were performed. Short HCG was done in children ten and less than ten years of age. Prolong HCG was performed in children more than ten years of age. Laproscopy and biopsy were carried out in patients who had mullerian duct structure on USG and also in patients with no gonads. FISH analysis was done in patients who were 46XX karyotype with testes.
منابع مشابه
Etiological diagnosis of undervirilized male/XY disorder of sex development.
OBJECTIVE To do clinical, hormonal and chromosomal analysis in undervirilized male / XY disorder of sex development and to make presumptive etiological diagnosis according to the new Disorder of Sex Development (DSD) classification system. STUDY DESIGN Case series. PLACE AND DURATION OF STUDY Endocrine Unit at National Institute of Child Health, Karachi, Pakistan, from January 2007 to Decem...
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Background: Disorders of sex development (DSD) are a medical condition that affects the normal process of sexual Various of the genes needed for gonad development have been identified by investigation of patients with disorders sex development (DSD).Phenotypes of patients with 46,XY DSD range from atonalism in female phenotype with complete external genitalia to male phenotype with testicular...
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In Indonesia clinical management of Disorders of Sex Development (DSD) is challenged by limited knowledge and limited diagnostic and treatment facilities. Prior to this study, most patients remained untreated and grew up with ambiguous bodies and doubts about their gender. We investigated patients’ experiences of being raised in ambiguity. 118 Indonesian patients, ages 6 – 41, with 46XX DSD (n=...
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متن کاملExtensive clinical, hormonal and genetic screening in a large consecutive series of 46,XY neonates and infants with atypical sexual development
BACKGROUND One in 4500 children is born with ambiguous genitalia, milder phenotypes occur in one in 300 newborns. Conventional time-consuming hormonal and genetic work-up provides a genetic diagnosis in around 20-40% of 46,XY cases with ambiguous genitalia. All others remain without a definitive diagnosis. The investigation of milder cases, as suggested by recent reports remains controversial. ...
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عنوان ژورنال:
دوره 2013 شماره
صفحات -
تاریخ انتشار 2013