Results 151 to 160 of about 9,016 (186)

Duplication of SOX9 associated with 46,XX ovotesticular disorder of sex development

Reproductive BioMedicine Online, 2018
The purpose of the present study was to investigate whether ten unrelated SRY-negative individuals with this sex differentiation disorder presented a double dose of SOX9 as the cause of their disease.Ten unrelated SRY-negative 46,XX ovotesticular disorder of sexual development (DSD) subjects were molecularly studied.
Berenice López-Hernández, Juan Pablo Méndez, Ramón Mauricio Coral-Vázquez, Jesús Benítez-Granados, Juan Carlos Zenteno, Vanessa Villegas-Ruiz, Raúl Calzada-León, Daniela Soderlund, Patricia Canto   +8 more
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Laparoscopic Surgery in 46,XX Disorder of Sex Development: Hysterosalpingectomy with Gonadectomy

Journal of Endourology, 2010
We present the outcomes of one of the largest series specifically of laparoscopic hysterosalpingectomy with bilateral gonadectomy in 46,XX patients with congenital adrenal hyperplasia raised as a male.From June 2005 to March 2008, five patients raised as male were treated at our institution using laparoscopic surgery.
George Rafael Martins, de Lima, João Batista Gadelha, de Cerqueira, Rômulo Augusto, da Silveira, Paulo Henrique, de Moura Reis, Marcos Flávio Holanda, Rocha, Rommel Prata, Regadas, Alexandre Sabóia, Leitão, Lúcio Flávio, Gonzaga-Silva   +7 more
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46,XX Disorders of Sex Development

2011
46,XX DSD comprise the most common group of genital abnormalities, with congenital adrenal hyperplasia (CAH) being the most important, not only because of its frequency but also because of its life-threatening complications without treatment. The different disorders are described, showing the range of genetic and enzymatic anomalies that lead to excess
Garry L. Warne, Jacqueline K. Hewitt
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Disorders of Sex Development: Classification, Review, and Impact on Fertility

Journal of Clinical Medicine, 2020
In this review, the elements included in both sex determination and sex differentiation are briefly analyzed, exposing the pathophysiological and clinical classification of disorders or anomalies of sex development. Anomalies in sex determination without
Pedro Acién, Maribel Acién, Acién Pedro   +2 more
exaly   +2 more sources

CBX2 gene analysis in patients with 46,XY and 46,XX gonadal disorders of sex development

Fertility and Sterility, 2013
To investigate a cohort of patients with gonadal disorders of sex development (DSD) for causative CBX2 gene mutations and or gene copy number changes.Genetic association study.University laboratory and tertiary university-based referral center.47 patients with different forms of 46,XY or 46,XX gonadal DSD.CBX2 gene sequencing and development of a ...
Ameli, Norling, Angelica Lindén, Hirschberg, Erik, Iwarsson, Anna, Wedell, Michela, Barbaro   +4 more
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46,XX Disorders Of Sex Development With Suspected Duchenne Muscular Dystrophy

2022
The present study describes the first prenatally diagnosed 46,XX disorders of sex development(46,XX DSD) case with suspected diagnosis of Duchenne muscular dystrophy(DMD) by integrated analyses in a Chinese pedigree.Target-captured sequencing and Sanger verification confirmed a widely reported pathogenic heterozygous nonsense mutation (NM_004006, c ...
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[The 46,XX male; a chromosomal form of a disorder of sex development].

Nederlands tijdschrift voor geneeskunde, 2019
A disorder of sex development (abbreviated DSD) is defined as a congenital condition in which development of chromosomal, gonadal or anatomical sex is atypical. DSD is caused by a disruption of foetal sexual development, which is largely influenced by various genetic and hormonal factors.
Margaretha M, Visser, Helen L, Lutgers, Conny M A, van Ravenswaaij   +2 more
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[Exploration of the pathogenesis for a SRY-negative male with 46,XX disorder of sex development].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics, 2021
To explore the pathogenesis for a SRY-negative male with 46,XX disorder of sex development (DSD).Peripheral blood samples of the patient and his family members were subjected to chromosomal karyotyping, routine PCR, real-time fluorescence quantitative PCR, whole exome sequencing and whole genome sequencing.
Ailing, Liu, Lanxue, Zhang, Hongyan, Xu, Baoqiang, Chong, Xiaxia, Liu, Lin, Li   +5 more
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46,XX T testicular disorder of sex development. Case report.

Archivos espanoles de urologia, 2011
We present a case of X-Y translocation with male phenotype (46,XX testicular disorder of sex development) and review the literature.Disorders of sex development with mismatch of genetic, gonadal and phenotypic sex are quite rare, and some are due to genetic or chromosomal abnormalities.
José María, Pastor Guzmán, Hector, Pastor Navarro, María Luisa, Quintanilla Mata, Pedro, Carrión López, Jesús, Martínez Ruíz, Carlos, Martínez Sanchiz, Miguel, Perán Teruel, Julio Antonio, Virseda Rodríguez   +7 more
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Disorders of sex development: 46,XX ­testicular form (XX sex inversion)

2016
Мета роботи — проаналізувати випадки ХХ­інверсії статі як причину виникнення порушень статевого диференціювання у дітей.Матеріали та методи. Здійснено ретроспективний аналіз 150 генетичних карт дітей із порушенням статевого диференціювання (ПСД). За період 1999—2015 рр. було діагностовано десять випадків ХХ­інверсії статі.
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