45,X/46,X,psu dic(Y) Gonadal Dysgenesis: Influence of the Two Cell Lines on the Clinical Phenotype, Including Gonadal Histology

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11130%2F13%3A10209809" target="_blank" >RIV/00216208:11130/13:10209809 - isvavai.cz</a>

Alternative codes found

RIV/00064203:_____/13:10209809

Result on the web

<a href="http://dx.doi.org/10.1159/000356173" target="_blank" >http://dx.doi.org/10.1159/000356173</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.1159/000356173" target="_blank" >10.1159/000356173</a>

Result language

angličtina

Original language name

45,X/46,X,psu dic(Y) Gonadal Dysgenesis: Influence of the Two Cell Lines on the Clinical Phenotype, Including Gonadal Histology

Original language description

A child born with ambiguous genitalia (Prader III) was found to have a 45, X[92.2%]/46,X,psu dic(Y)(p12)[7.8%] karyotype in peripheral blood lymphocytes. The testosterone level was consistent with that of a normal male; however, gonadotropins were elevated. Ultrasound and endoscopy of the urogenital sinus revealed well-developed Mullerian structures. At 3.5 months, the child was operated for right-sided incarcerated hernia, and the gonad situated at the inguinal region was biopsied and classified as primitive testis. Based on the presence of Mullerian structures, anatomy of external genitalia and wish of the parents, the child was assigned female gender. She underwent removal of the left gonad at 4 months during another acute surgery; histology was similar to the right gonad. The rest of the right gonad was removed at 16 months, and feminizing genitoplasty took place at 3 years. The right and left gonad contained 28 and 22% of cells with a Y chromosome, respectively. During further his

Czech name

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Czech description

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Type

J_x - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)

CEP classification

EB - Genetics and molecular biology

OECD FORD branch

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Project

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Continuities

I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Publication year

2013

Confidentiality

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Name of the periodical

Sexual Development

ISSN

1661-5425

e-ISSN

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Volume of the periodical

7

Issue of the periodical within the volume

6

Country of publishing house

CH - SWITZERLAND

Number of pages

7

Pages from-to

282-288

UT code for WoS article

000328261400002

EID of the result in the Scopus database

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