Russell–Silver syndrome presenting with ambiguous genitalia
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 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....
متن کاملA Rare Occurrence of Ambiguous Genitalia in Meckel-Gruber Syndrome (MGS): A Case Report
Background: Meckel-Gruber Syndrome (MGS) is a rare autosomal recessive congenital syndrome with triad of encephalocele, polydactyly, and polycystic kidneys. The worldwide incidence of the MGS is 1 in 1.3-1 in 140,000 live births. The highest incidence of 1 per 1,300 live births (carrier rate of 1 in 18) was reported in Gujarati Indians. MGS is caused by mutation in the...
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ژورنال
عنوان ژورنال: Journal of the Formosan Medical Association
سال: 2017
ISSN: 0929-6646
DOI: 10.1016/j.jfma.2016.11.003