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Developmental Dynamics : An Official... Apr 2013Epigenetics is commonly defined as the study of heritable changes in gene function that cannot be explained by changes in DNA sequence. The three major epigenetic... (Review)
Review
Epigenetics is commonly defined as the study of heritable changes in gene function that cannot be explained by changes in DNA sequence. The three major epigenetic mechanisms for gene expression regulation include DNA methylation, histone modifications, and non-coding RNAs. Epigenetic mechanisms provide organisms with the ability to integrate genomic and environmental information to modify the activity of their genes for generating a particular phenotype. During development, cells differentiate, acquire, and maintain identity through changes in gene expression. This is crucial for sex determination and differentiation, which are among the most important developmental processes for the proper functioning and perpetuation of species. This review summarizes studies showing how epigenetic regulatory mechanisms contribute to sex determination and reproductive organ formation in plants, invertebrates, and vertebrates. Further progress will be made by integrating several approaches, including genomics and Next Generation Sequencing to create epigenetic maps related to different aspects of sex determination and gonadogenesis. Epigenetics will also contribute to understand the etiology of several disorders of sexual development. It also might play a significant role in the control of reproduction in animal farm production and will aid in recognizing the environmental versus genetic influences on sex determination of sensitive species in a global change scenario.
Topics: Animals; DNA Methylation; Disorders of Sex Development; Environment; Epigenesis, Genetic; Female; Gonads; Histones; Humans; Male; RNA, Untranslated; Sex Determination Processes; Sex Differentiation
PubMed: 23335256
DOI: 10.1002/dvdy.23924 -
British Medical Journal Feb 1955
Topics: Disorders of Sex Development; Humans; Male; Ovotesticular Disorders of Sex Development
PubMed: 13230506
DOI: 10.1136/bmj.1.4910.395 -
British Medical Journal Mar 1972
Topics: Adolescent; Age Factors; Androgen-Insensitivity Syndrome; Child; Disorders of Sex Development; Female; Humans; Klinefelter Syndrome; Male; Mouth Mucosa; Pituitary Diseases; Puberty; Turner Syndrome
PubMed: 5014255
DOI: 10.1136/bmj.1.5803.790 -
Proceedings of the Royal Society of... Sep 1958
Topics: 46, XX Disorders of Sex Development; Disorders of Sex Development; Female; Humans
PubMed: 13591289
DOI: No ID Found -
British Medical Journal Jul 1953
Topics: Disorder of Sex Development, 46,XY; Disorders of Sex Development; Humans; Male
PubMed: 13051595
DOI: 10.1136/bmj.2.4827.94 -
Annals of Surgery Nov 1952
Topics: Disorders of Sex Development; Humans; Male; Ovotesticular Disorders of Sex Development
PubMed: 12986666
DOI: 10.1097/00000658-195211000-00010 -
Current Topics in Developmental Biology 2019The medical and psychosocial challenges faced by patients living with Disorders/Differences of Sex Development (DSD) and their families can be alleviated by a rapid and... (Review)
Review
The medical and psychosocial challenges faced by patients living with Disorders/Differences of Sex Development (DSD) and their families can be alleviated by a rapid and accurate diagnostic process. Clinical diagnosis of DSD is limited by a lack of standardization of anatomical and endocrine phenotyping and genetic testing, as well as poor genotype/phenotype correlation. Historically, DSD genes have been identified through positional cloning of disease-associated variants segregating in families and validation of candidates in animal and in vitro modeling of variant pathogenicity. Owing to the complexity of conditions grouped under DSD, genome-wide scanning methods are better suited for identifying disease causing gene variant(s) and providing a clinical diagnosis. Here, we review a number of established genomic tools (karyotyping, chromosomal microarrays and exome sequencing) used in clinic for DSD diagnosis, as well as emerging genomic technologies such as whole-genome (short-read) sequencing, long-read sequencing, and optical mapping used for novel DSD gene discovery. These, together with gene expression and epigenetic studies can potentiate the clinical diagnosis of DSD diagnostic rates and enhance the outcomes for patients and families.
Topics: Disorders of Sex Development; Genetic Testing; Genomics; Humans; Karyotyping; Sex Chromosome Aberrations; Sex Chromosomes; Exome Sequencing
PubMed: 30999980
DOI: 10.1016/bs.ctdb.2019.01.005 -
The European Journal of Contraception &... Feb 2018The bodies of some transgender and intersex people have been mutilated and their minds subjected to immense distress. Their gender has often been determined by others.... (Review)
Review
BACKGROUND
The bodies of some transgender and intersex people have been mutilated and their minds subjected to immense distress. Their gender has often been determined by others. Loss of fertility used to be considered an inevitable consequence of treatment.
OBJECTIVE
To review the issue of preserving the reproductive potential of transgender and intersex people.
METHODS
A narrative review based on a wide-ranging search of the literature in multiple disciplines.
RESULTS
Major technological advances have facilitated reproduction for transgender and intersex people in the last few years. A majority of trans-adults believe that fertility preservation should be offered to them. Deferment of surgery for intersex people is often best practice; gonadectomy in infancy closes off fertility options and determines a gender they may later regret.
CONCLUSIONS
Transgender and intersex people should be able to consent to or decline treatment, especially radical surgery, themselves. Preservation of reproductive potential and sexual function must be given a high priority. Treatment by multidisciplinary teams can provide a strong emphasis on mental health and well-being. Detailed information about options, an absence of any coercion and enough time are all needed in order to make complex, life-changing decisions.
Topics: Disorders of Sex Development; Female; Fertility; Fertility Preservation; History, 20th Century; History, 21st Century; Human Rights; Humans; Male; Reproduction; Sex Reassignment Procedures; Transgender Persons
PubMed: 29323576
DOI: 10.1080/13625187.2017.1422240 -
BMC Medicine Jun 2013Sexual development in humans is only partly understood at the molecular level. It is dependent on genetic control primarily induced by the sex chromosomal differences... (Comparative Study)
Comparative Study Review
Sexual development in humans is only partly understood at the molecular level. It is dependent on genetic control primarily induced by the sex chromosomal differences between males and females. This leads to the development of the gonads, whereby afterwards the differentiation of the apparent phenotype is controlled by hormone action. Sex steroids may exert permanent and temporary effects. Their organizational features of inducing permanent changes in phenotype occur through genetic control of downstream genes. In this, androgens are the key elements for the differentiation of male internal and external genitalia as well as other sexual organs and general body composition, acting through a single androgen receptor. The androgen receptor is a nuclear transcription factor modulating DNA transcription of respective target genes and thereby driving development and growth in a stringent manner. The specificity of androgen action seems to be a strictly time-controlled process with the androgen receptor acting in concert with different metabolites and an array of cofactors modulating the cellular response and thereby permanently altering the phenotype of any given individual. For every cell programmed by androgens, a specific 'androgen response index' must be proposed.
Topics: Androgens; Animals; Cell Differentiation; Disorders of Sex Development; Female; Humans; Male; Sex Differentiation; Sexual Development
PubMed: 23800242
DOI: 10.1186/1741-7015-11-152 -
Sexual Development : Genetics,... 2012The molecular steps in normal sexual development were largely discovered by studying patients and animal models with disorders of sexual development (DSD). Although... (Review)
Review
The molecular steps in normal sexual development were largely discovered by studying patients and animal models with disorders of sexual development (DSD). Although several types of DSD have been reported in the cat and dog, which are often strikingly similar to human DSD, these have been infrequently utilized to contribute to our knowledge of mammalian sexual development. Canine and feline cases of DSD with sufficient evidence to be considered as potential models are summarized in this report. The consensus DSD terminology, and reference to previous terminology, is used to foster adoption of a common nomenclature that will facilitate communication and collaboration between veterinarians, physicians, and researchers. To efficiently utilize these unique resources as molecular tools continue to improve, it will be helpful to deposit samples from valuable cases into repositories where they are available to contribute to our understanding of sexual development, and thus improve human and animal health.
Topics: Animals; Cat Diseases; Cats; Cryptorchidism; Disorder of Sex Development, 46,XY; Disorders of Sex Development; Dog Diseases; Dogs; Female; Hypospadias; Male; Models, Animal; Ovarian Diseases; Sex Chromosome Disorders of Sex Development; Testicular Diseases; X Chromosome; Y Chromosome
PubMed: 22005097
DOI: 10.1159/000332740