scholarly journals Integrated small copy number variations and epigenome maps of disorders of sex development

2016 ◽  
Vol 3 (1) ◽  
Author(s):  
Ina E Amarillo ◽  
Isabelle Nievera ◽  
Andrew Hagan ◽  
Vishwa Huchthagowder ◽  
Jennifer Heeley ◽  
...  
Keyword(s):  
Copy Number ◽  
Disorders Of Sex Development ◽  
Copy Number Variations ◽  
Sex Development

DNA Copy Number Variations in Patients with 46,XY Disorders of Sex Development

2014 ◽  
Vol 192 (6) ◽  
pp. 1801-1806 ◽  
Author(s):  
Steven M. Harrison ◽  
Candace F. Granberg ◽  
Melise Keays ◽  
Martinez Hill ◽  
Gwen M. Grimsby ◽  
...  
Keyword(s):  
Copy Number ◽  
Disorders Of Sex Development ◽  
Copy Number Variations ◽  
Dna Copy Number ◽  
Dna Copy Number Variations ◽  
Sex Development

scholarly journals Analysis of XX SRY-Negative Sex Reversal Dogs

Animals ◽  
2020 ◽  
Vol 10 (9) ◽  
pp. 1667 ◽  
Author(s):  
Sara Albarella ◽  
Lisa De Lorenzi ◽  
Elena Rossi ◽  
Francesco Prisco ◽  
Marita Georgia Riccardi ◽  
...  
Keyword(s):  
Copy Number ◽  
Promoter Region ◽  
Molecular Genetic ◽  
Disorders Of Sex Development ◽  
Sex Reversal ◽  
Copy Number Variations ◽  
Genomic Region ◽  
Chromosome 9 ◽  
Economic Losses ◽  
Sex Development

Impaired fertility associated with disorders of sex development (DSDs) due to genetic causes in dogs are more and more frequently reported. Affected dogs are usually of specific breeds thus representing a cause of economic losses for breeders. The aim of this research is to report the clinical, cytogenetic and molecular genetic findings of four XX SRY-negative DSD dog cases. All the subjects showed a female aspect and the presence of an enlarged clitoris with a penis bone. Morphopathological analyses performed in three of the four cases showed the presence of testes in two cases and ovotestis in another. Conventional and R-banded cytogenetic techniques were applied showing that no chromosome abnormalities were involved in these DSDs. CGH arrays show the presence of 11 copy number variations (CNVs), one of which is a duplication of 458 Kb comprising the genomic region between base 17,503,928 and base 17,962,221 of chromosome 9 (CanFam3 genome assembly). This CNV, confirmed also by qPCR, includes the promoter region of SOX9 gene and could explain the observed phenotype.

scholarly journals The laboratory in the multidisciplinary diagnosis of differences or disorders of sex development (DSD)

2021 ◽  
Vol 0 (0) ◽  
Author(s):  
Maria Luisa Granada ◽  
Laura Audí
Keyword(s):  
Differential Diagnosis ◽  
Candidate Genes ◽  
Steroid Hormones ◽  
Gene Dosage ◽  
Disorders Of Sex Development ◽  
Diagnostic Algorithm ◽  
Genetic Data ◽  
Gonadal Hormones ◽  
Copy Number Variations ◽  
Sex Development

Abstract Objectives 46,XY differences/disorders of sex development (DSD) involve an abnormal gonadal and/or genital (external and/or internal) development caused by lack or incomplete intrauterine virilization, with or without the presence of Müllerian ducts remnants. Content Useful biochemical markers for differential diagnosis of 46,XY DSD include hypothalamic-pituitary-gonadal hormones such as luteinizing and follicle-stimulating hormones (LH and FSH; in baseline or after LHRH stimulation conditions), the anti-Müllerian hormone (AMH), inhibin B, insulin-like 3 (INSL3), adrenal and gonadal steroid hormones (including cortisol, aldosterone, testosterone and their precursors, dihydrotestosterone and estradiol) and the pituitary ACTH hormone. Steroid hormones are measured at baseline or after stimulation with ACTH (adrenal hormones) and/or with HCG (gonadal hormones). Summary Different patterns of hormone profiles depend on the etiology and the severity of the underlying disorder and the age of the patient at diagnosis. Molecular diagnosis includes detection of gene dosage or copy number variations, analysis of candidate genes or high-throughput DNA sequencing of panels of candidate genes or the whole exome or genome. Outlook Differential diagnosis of 46,XX or 46,XY DSD requires a multidisciplinary approach, including patient history and clinical, morphological, imaging, biochemical and genetic data. We propose a diagnostic algorithm suitable for a newborn with DSD that focuses mainly on biochemical and genetic data.

scholarly journals Copy Number Variation in Patients with Disorders of Sex Development Due to 46,XY Gonadal Dysgenesis

PLoS ONE ◽  
2011 ◽  
Vol 6 (3) ◽  
pp. e17793 ◽  
Author(s):  
Stefan White ◽  
Thomas Ohnesorg ◽  
Amanda Notini ◽  
Kelly Roeszler ◽  
Jacqueline Hewitt ◽  
...  
Keyword(s):  
Copy Number Variation ◽  
Copy Number ◽  
Gonadal Dysgenesis ◽  
Disorders Of Sex Development ◽  
Sex Development ◽  
Xy Gonadal Dysgenesis ◽  
Number Variation

scholarly journals Modern opportunities and indications for genetic diagnosis of male infertility

2019 ◽  
pp. 3-15
Author(s):  
Т.М. Сорокина ◽  
О.А. Соловова ◽  
В.Б. Черных
Keyword(s):  
Male Infertility ◽  
Recurrent Miscarriage ◽  
Genetic Diagnosis ◽  
Disorders Of Sex Development ◽  
Gene Mutations ◽  
Genomic Analysis ◽  
Copy Number Variations ◽  
Genetic Causes ◽  
Sex Development ◽  
Genetic Examination

Тяжелые формы мужского и женского бесплодия, привычного невынашивания беременности, аномалий формирования пола часто обусловлены генетическими причинами или связаны с генетическими факторами. Медико-генетическое обследование и консультирование пациентов с нарушением репродукции зачастую ограничивается использованием стандартных рутинных исследований, поэтому не позволяет выявить многие наследственные формы репродуктивной патологии. Методы геномного анализа позволяют повысить эффективность диагностики генетически обусловленных нарушений репродукции, вызванных генными мутациями и вариациями числа копий (CNV), но их пока широко не используют в практическое медицине. В статье рассмотрены современные возможности медико-генетического обследования мужчин с нарушением фертильности, а также приведены показания и алгоритмы диагностики генетических причин мужского бесплодия, связанного с различными формами патозооспермии. Evere forms of male and female infertility, recurrent miscarriage, abnormalities in disorders of sex development are often due to genetic causes or are associated with genetic factors. Genetic examination and counseling of patients with reproductive problems is often limited to the use of standard routine techniques, therefore, it is not possible to identify many hereditary forms of reproductive pathology. Genomic analysis methods can improve the diagnosis of genetic reproductive disorders caused by gene mutations and copy number variations (CNVs), but they are not yet widely used in practical medicine. The article discusses the modern possibilities of medical-genetic examination of infertile men with, as well as the indications and diagnostic algorithms for the genetic causes of male infertility associated with various forms of pathozoospermia.

scholarly journals GENETICS IN ENDOCRINOLOGY: Approaches to molecular genetic diagnosis in the management of differences/disorders of sex development (DSD): position paper of EU COST Action BM 1303 ‘DSDnet’

2018 ◽  
Vol 179 (4) ◽  
pp. R197-R206 ◽  
Author(s):  
L Audí ◽  
S F Ahmed ◽  
N Krone ◽  
M Cools ◽  
K McElreavey ◽  
...  
Keyword(s):  
Candidate Genes ◽  
Best Practice ◽  
Molecular Genetic ◽  
Genetic Diagnosis ◽  
Disorders Of Sex Development ◽  
Initial Step ◽  
Copy Number Variations ◽  
Position Paper ◽  
Sex Development ◽  
Complementary Approach

The differential diagnosis of differences or disorders of sex development (DSD) belongs to the most complex fields in medicine. It requires a multidisciplinary team conducting a synoptic and complementary approach consisting of thorough clinical, hormonal and genetic workups. This position paper of EU COST (European Cooperation in Science and Technology) Action BM1303 ‘DSDnet’ was written by leading experts in the field and focuses on current best practice in genetic diagnosis in DSD patients. Ascertainment of the karyotpye defines one of the three major diagnostic DSD subclasses and is therefore the mandatory initial step. Subsequently, further analyses comprise molecular studies of monogenic DSD causes or analysis of copy number variations (CNV) or both. Panels of candidate genes provide rapid and reliable results. Whole exome and genome sequencing (WES and WGS) represent valuable methodological developments that are currently in the transition from basic science to clinical routine service in the field of DSD. However, in addition to covering known DSD candidate genes, WES and WGS help to identify novel genetic causes for DSD. Diagnostic interpretation must be performed with utmost caution and needs careful scientific validation in each DSD case.

The Role of Copy Number Variants in Disorders of Sex Development

2017 ◽  
Vol 12 (1-3) ◽  
pp. 19-29 ◽  
Author(s):  
Brittany Croft ◽  
Thomas Ohnesorg ◽  
Andrew H. Sinclair
Keyword(s):  
Copy Number ◽  
Copy Number Variants ◽  
Disorders Of Sex Development ◽  
Sex Development
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