a newborn with ambiguous genitalia and a complex x;y rearrangement
نویسندگان
چکیده
background: in most mammals, sex is determined at the beginning of gestation by the constitution of the sex chromosomes, xy in males and xx in females. case: here we report an interesting case characterized by ambiguous genitalia and ovotestis in a newborn carrying an apparently female karyotype (46 xx). array comparative genomic hybridization (array-cgh) revealed an unbalanced rearrangement resulting in the deletion of the distal xp and the duplication of the proximal xp contiguous region with presence of the y chromosome from ypter to yq11. fluorescent in situ hybridization (fish) showed that this portion of the y was translocated to the tip of the abnormal x and that the duplicated portion of chromosome x was inverted. altogether, the abnormal chromosome was a dicentric one with the centromere of the y chromosome apparently inactivated. conclusion: the presence within the translocated y chromosome of the sry gene explains the devolopment of testes although it is not clear the reason for the genitalia ambiguity
منابع مشابه
A newborn with ambiguous genitalia and a complex X;Y rearrangement
BACKGROUND In most mammals, sex is determined at the beginning of gestation by the constitution of the sex chromosomes, XY in males and XX in females. CASE Here we report an interesting case characterized by ambiguous genitalia and ovotestis in a newborn carrying an apparently female karyotype (46 XX). Array Comparative Genomic Hybridization (Array-CGH) revealed an unbalanced rearrangement re...
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 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 کاملX-Linked Lissencephaly with Absent Corpus Callosum and Ambiguous Genitalia: A Case Report
Background: X-linked lissencephaly with ambiguous genitalia (XLAG) is a recently described genetic disorder, in which patients present with lissencephaly, agenesis of the corpus callosum, refractory epilepsy of neonatal onset, acquired microcephaly, and male genotype with ambiguous genitalia. XLAG is responsible for a severe neurological disorder of neonatal onset in boys. A gyration defect con...
متن کاملAmbiguous Genitalia: Evaluation and Management in the Newborn
Infants born with ambiguous genitalia pose challenges to medical providers and can cause parental anxiety and distress. Disorders of sexual development (DSD) are classified into 3 major categories (46,XY DSD, 46,XX DSD, and sex chromosome DSD). A thorough history, physical examination, and appropriate diagnostic testing are needed to identify the underlying etiology. An understanding of normal ...
متن کاملAmbiguous genitalia with perineoscrotal hypospadias in 46,XY individuals: long-term medical, surgical, and psychosexual outcome.
OBJECTIVES To identify and study adults (21 years or older) who have a 46,XY karyotype and presented as infants or children with genital ambiguity, including a small phallus and perineoscrotal hypospadias, reared male or female. METHODS Participants were classified according to the cause underlying their intersex condition based on review of medical and surgical records. Long-term medical and...
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عنوان ژورنال:
international journal of reproductive biomedicineجلد ۱۲، شماره ۵، صفحات ۳۵۱-۰
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