P04.11: Trisomy 18 with ambiguous genitalia and congenital heart defect
نویسندگان
چکیده
منابع مشابه
Ambiguous genitalia and intersex.
Intersex disorders are rare congenital malformations with over 80% being diagnosed with congenital adrenal hyperplasia (CAH). It can be challenging to determine the correct gender at birth and a detailed understanding of the embryology and anatomy is crucial. The birth of a child with intersex is a true emergency situation and an immediate transfer to a medical center familiar with the diagnosi...
متن کاملAn infant with trisomy 18 and a ventricular septal defect.
Decisions for critically ill infants with trisomy 18 raise thorny issues about values, futility, the burdens of treatment, cost-effectiveness, and justice. We presented the case of an infant with trisomy 18 to 2 neonatologists with experience in clinical ethics, Annie Janvier and Felix Okah, and to a parent, Barbara Farlow. They do not agree about the right thing to do.
متن کاملThe Newborn with Ambiguous Genitalia. New Diagnostic
This review contains two parts. Part 1: definition of the problem, description of basic concepts related to normal sexual differentiation, diagnostic orientation for the clinician, and comments on the problem of sex assignment from the personal, social and legal point of views. Part 2 (to be published in the next issue of the Endocrinología Pediatrica On Line Site): description of the most comm...
متن کاملSurgery for Female Ambiguous Genitalia
Historically, in female pseudohermaphrodites a staged procedure with early clitoral reduction and delayed vaginoplasty was often the treatment of choice. In recent years several authors have described 1-stage genitoplasty that is performed in the first year of life. The 1stage procedure for clitoroplasty and vaginal exteriorization is preferable for an optimal functional and cosmetic result. Be...
متن کاملAmbiguous Genitalia in the Newborn
Efficient and accurate evaluation of the newborn who has ambiguous genitalia is required to provide appropriate medical therapy and assuage parental anxiety. Genital ambiguity usually is due to virilization of genetic females or undervirilization of genetic males who have normal gonads. Congenital adrenal hyperplasia is the most common condition leading to inappropriate virilization in females....
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ژورنال
عنوان ژورنال: Ultrasound in Obstetrics and Gynecology
سال: 2006
ISSN: 0960-7692
DOI: 10.1002/uog.3559