scholarly journals Oligogenic Origin of Differences of Sex Development in Humans

2020 ◽  
Vol 21 (5) ◽  
pp. 1809 ◽  
Author(s):  
Núria Camats ◽  
Christa E Flück ◽  
Laura Audí
Keyword(s):  
Broad Spectrum ◽  
High Throughput Sequencing ◽  
Phenotypic Variability ◽  
Large Network ◽  
Monogenic Disorders ◽  
The Past ◽  
Sex Development ◽  
Underlying Network ◽  
Differences Of Sex Development ◽  
Biological Event

Sex development is a very complex biological event that requires the concerted collaboration of a large network of genes in a spatial and temporal correct fashion. In the past, much has been learned about human sex development from monogenic disorders/differences of sex development (DSD), but the broad spectrum of phenotypes in numerous DSD individuals remains a conundrum. Currently, the genetic cause of less than 50% of DSD individuals has been solved and oligogenic disease has been proposed. In recent years, multiple genetic hits have been found in individuals with DSD thanks to high throughput sequencing. Our group has been searching for additional genetic hits explaining the phenotypic variability over the past years in two cohorts of patients: 46,XY DSD patients carriers of NR5A1 variants and 46,XY DSD and 46,XX DSD with MAMLD1 variants. In both cohorts, our results suggest that the broad phenotypes may be explained by oligogenic origin, in which multiple hits may contribute to a DSD phenotype, unique to each individual. A search for an underlying network of the identified genes also revealed that a considerable number of these genes showed interactions, suggesting that genetic variations in these genes may affect sex development in concert.

scholarly journals 46,XX DSD due to Androgen Excess in Monogenic Disorders of Steroidogenesis: Genetic, Biochemical, and Clinical Features

2019 ◽  
Vol 20 (18) ◽  
pp. 4605 ◽  
Author(s):  
Baronio ◽  
Ortolano ◽  
Menabò ◽  
Cassio ◽  
Baldazzi ◽  
...  
Keyword(s):  
Clinical Features ◽  
Human Reproduction ◽  
Androgen Excess ◽  
Post Translational Modifications ◽  
Monogenic Disorders ◽  
Sex Development ◽  
Redox Partners ◽  
Differences Of Sex Development ◽  
Atypical Development ◽  
Sex Disorders

The term ‘differences of sex development’ (DSD) refers to a group of congenital conditions that are associated with atypical development of chromosomal, gonadal, or anatomical sex. Disorders of steroidogenesis comprise autosomal recessive conditions that affect adrenal and gonadal enzymes and are responsible for some conditions of 46,XX DSD where hyperandrogenism interferes with chromosomal and gonadal sex development. Congenital adrenal hyperplasias (CAHs) are disorders of steroidogenesis that mainly involve the adrenals (21-hydroxylase and 11-hydroxylase deficiencies) and sometimes the gonads (3-beta-hydroxysteroidodehydrogenase and P450-oxidoreductase); in contrast, aromatase deficiency mainly involves the steroidogenetic activity of the gonads. This review describes the main genetic, biochemical, and clinical features that apply to the abovementioned conditions. The activities of the steroidogenetic enzymes are modulated by post-translational modifications and cofactors, particularly electron-donating redox partners. The incidences of the rare forms of CAH vary with ethnicity and geography. The elucidation of the precise roles of these enzymes and cofactors has been significantly facilitated by the identification of the genetic bases of rare disorders of steroidogenesis. Understanding steroidogenesis is important to our comprehension of differences in sexual development and other processes that are related to human reproduction and fertility, particularly those that involve androgen excess as consequence of their impairment.

Recalled and current gender role behavior, gender identity and sexual orientation in adults with Disorders/Differences of Sex Development

2016 ◽  
Vol 86 ◽  
pp. 8-20 ◽  
Author(s):  
Nina Callens ◽  
Maaike Van Kuyk ◽  
Jet H. van Kuppenveld ◽  
Stenvert L.S. Drop ◽  
Peggy T. Cohen-Kettenis ◽  
...  
Keyword(s):  
Sexual Orientation ◽  
Gender Identity ◽  
Gender Role ◽  
Role Behavior ◽  
Sex Development ◽  
Gender Role Behavior ◽  
Differences Of Sex Development

scholarly journals Assembling the jigsaw puzzle: CBX2 isoform 2 and its targets in disorders/differences of sex development

2018 ◽  
Vol 6 (5) ◽  
pp. 785-795 ◽  
Author(s):  
Patrick Sproll ◽  
Wassim Eid ◽  
Camila R. Gomes ◽  
Berenice B. Mendonca ◽  
Nathalia L. Gomes ◽  
...  
Keyword(s):  
Jigsaw Puzzle ◽  
Sex Development ◽  
Differences Of Sex Development

scholarly journals Reimagining unfinished architectures: ruin perspectives between art and heritage

2018 ◽  
Vol 26 (2) ◽  
pp. 227-244
Author(s):  
Pablo Arboleda
Keyword(s):  
Financial Crisis ◽  
Broad Spectrum ◽  
Organised Crime ◽  
Public Works ◽  
Architectural Style ◽  
2008 Financial Crisis ◽  
Complex Issue ◽  
The Past ◽  
Single Solution ◽  
The 2008 Financial Crisis

For the past five decades, hundreds of unfinished public works have been erected in Italy as the result of inconsistent planning and the presence of corruption and organised crime. A third of these constructions are located in Sicily alone, and so, in 2007, a group of artists labelled this phenomenon an architectural style: ‘ Incompiuto Siciliano’. Through this creative approach, the artists’ objective is to put incompletion back on the agenda by viewing it from a heritage perspective. This article reviews the different approaches that the artists have envisaged to handle unfinished public works; whether to finish them, demolish them, leave them as they are or opt for an ‘active’ arrested decay. The critical implications of these strategies are analysed in order to, ultimately, conclude that incompletion is such a vast and complex issue that it will surely have more than one single solution; but rather a combination of these four. This is important because it opens up a debate on the broad spectrum of possibilities to tackle incompletion – establishing this as one of the key contemporary urban themes not only in Italy but also in those countries affected by unfinished geographies after the 2008 financial crisis.

The Interconnected Histories of Endocrinology and Eligibility in Women’s Sport

2018 ◽  
Vol 90 (4) ◽  
pp. 213-220 ◽  
Author(s):  
Alan D. Rogol ◽  
Lindsay Parks Pieper
Keyword(s):  
Female Athletes ◽  
International Association ◽  
Historical Context ◽  
International Olympic Committee ◽  
Elite Sport ◽  
Women's Sport ◽  
Current Effort ◽  
Sex Development ◽  
Differences Of Sex Development

This report illustrates the links between history, sport, endocrinology, and genetics to show the ways in which historical context is key to understanding the current conversations and controversies about who may compete in the female category in elite sport. The International Association of Athletics Federations (IAAF) introduced hyperandrogenemia regulations for women’s competitions in 2011, followed by the International Olympic Committee (IOC) for the 2012 Olympics. The policies concern female athletes who naturally produce higher-than-average levels of testosterone and want to compete in the women’s category. Hyperandrogenemia guidelines are the current effort in a long series of attempts to determine women’s eligibility scientifically. Scientific endeavors to control who may participate as a woman illustrate the impossibility of neatly classifying competitors by sex and discriminate against women with differences of sex development (also called intersex by some).

scholarly journals Assessing pollution of aquatic environments with diatoms’ DNA metabarcoding: experience and developments from France water framework directive networks

2019 ◽  
Vol 3 ◽  
Author(s):  
Vasselon Valentin ◽  
Rimet Frédéric ◽  
Domaizon Isabelle ◽  
Monnier Olivier ◽  
Reyjol Yorick ◽  
...  
Keyword(s):  
Water Framework Directive ◽  
High Throughput Sequencing ◽  
Ecological Status ◽  
Aquatic Environments ◽  
Morphological Identification ◽  
The Past ◽  
Sequencing Technologies ◽  
Dna Metabarcoding ◽  
Morphological Approach ◽  
Status Assessment

Ecological status assessment of watercourses is based on the calculation of quality indices using pollution sensitivity of targeted biological groups, including diatoms. The determination and quantification of diatom species is generally based on microscopic morphological identification, which requires expertise and is time-consuming and costly. In Europe, this morphological approach is legally imposed by standards and regulatory decrees by the Water Framework Directive (WFD). Over the past decade, a DNA-based molecular biology approach has newly been developed to identify species based on genetic criteria rather than morphological ones (i.e. DNA metabarcoding). In combination with high throughput sequencing technologies, metabarcoding makes it possible both to identify all species present in an environmental sample and to process several hundred samples in parallel. This article presents the results of two recent studies carried out on the WFD networks of rivers of Mayotte (2013–2018) and metropolitan France (2016–2018). These studies aimed at testing the potential application of metabarcoding for biomonitoring in the context of the WFD. We discuss the various methodological developments and optimisations that have been made to make the taxonomic inventories of diatoms produced by metabarcoding more reliable, particularly in terms of species quantification. We present the results of the application of this DNA approach on more than 500 river sites, comparing them with those obtained using the standardised morphological method. Finally, we discuss the potential of metabarcoding for routine application, its limits of application and propose some recommendations for future implementation in WFD.

scholarly journals Pediatric Urologists of Canada (PUC) 2021 position statement: Differences of sex development (AKA disorders of sex development)

2021 ◽  
Vol 15 (12) ◽  
Author(s):  
Rodrigo L.P. Romao ◽  
Luis H. Braga ◽  
Melise Keays ◽  
Peter Metcalfe ◽  
Karen Psooy ◽  
...  
Keyword(s):  
Disorders Of Sex Development ◽  
Position Statement ◽  
Sex Development ◽  
Differences Of Sex Development

1,8-naphthyridine derivatives: an updated review on recent advancements of their myriad biological activities

2021 ◽  
Author(s):  
Shivani Mithula ◽  
Adinarayana Nandikolla ◽  
Sankaranarayanan Murugesan ◽  
Venkata GCS Kondapalli
Keyword(s):  
Drug Discovery ◽  
Broad Spectrum ◽  
Medicinal Chemistry ◽  
Biological Activities ◽  
Antioxidant Properties ◽  
The Past ◽  
Anti Hiv ◽  
Past Half ◽  
Half Decade

Among all nitrogen-containing heterocycles, the 1,8-naphthyridine scaffold has recently gained an immense amount of curiosity from numerous researchers across fields of medicinal chemistry and drug discovery. This new attention can be ascribed to its versatility of synthesis, its reactiveness and the variety of biological activities it has exhibited. Over the past half-decade, numerous diverse biological evaluations have been conducted on 1,8-naphthyridine and its derivatives in a quest to unravel novel pharmacological facets to this scaffold. Its potency to treat neurodegenerative and immunomodulatory disorders, along with its anti-HIV, antidepressant and antioxidant properties, has enticed researchers to look beyond its broad-spectrum activities, providing further scope for exploration. This review is a consolidated update of previous works on 1,8-naphthyridines and their analogs, focusing on the past 5 years.

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