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Related Concept Videos

Sex-linked Disorders01:43

Sex-linked Disorders

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Like autosomes, sex chromosomes contain a variety of genes necessary for normal body function. When a mutation in one of these genes results in biological deficits, the disorder is considered sex-linked.
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Disorders of the Male Reproductive System01:20

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Men's health issues are increasingly recognized as significant, with several conditions posing common threats. Among these, testicular cancer is especially prevalent in younger men, particularly those aged 20 to 35 years. The disease often manifests as a painless mass in the testicles, sometimes accompanied by a sensation of heaviness or a dull ache.
Prostate disorders are another major concern. These conditions can impair urinary flow due to the prostate's location around the urethra....
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Disorders of the Female Reproductive System01:24

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The female reproductive system can be affected by several disorders, including Premenstrual Syndrome (PMS), Premenstrual Dysphoric Disorder (PMDD), endometriosis, and various forms of cancer. PMS and PMDD are cyclical conditions that cause physical and emotional distress, with symptoms that include edema, mood swings, and food cravings. PMDD is a more severe form of PMS characterized by increased symptom severity that peaks during the luteal phase and tends to improve or resolve shortly after...
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Psychosexual Stages of Personality: Genital01:23

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The genital stage is the final phase of Sigmund Freud's theory of psychosexual development, beginning at puberty, around age 12. During this stage, sexual energy shifts from self-focused interests to external individuals, marking the development of mature adult sexuality. Freud saw this phase as a time of sexual reawakening, with desires directed toward others outside the family. A healthy transition into this stage, according to Freud, signifies the emergence of two key aspects of adult...
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Psychosexual Theory of Development01:14

Psychosexual Theory of Development

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Sigmund Freud's psychosexual theory of development suggests that early childhood experiences significantly shape personality and behavior. Freud proposed that development is discontinuous, occurring in five distinct stages, each defined by a focus on different erogenous zones. He believed that failure to resolve the conflicts specific to each stage successfully could result in fixation, potentially influencing behavior as adults.
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The Ratio of X Chromosome to Autosomes02:45

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In most organisms, sex is determined by the ratio of X and Y chromosomes. However, in some organisms, such as Drosophila and C.elegans, sex is determined by the ratio of the number of X chromosomes to the number of sets of autosomes. The Y chromosome in Drosophila is active but does not determine sex. It contains genes responsible for the production of sperms in adult flies.  
Normal male Drosophila has a ratio of one X chromosome to two sets of autosomes. In contrast, normal female...
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A novel candidate missense variant in the catalytic domain of USP26 associated with asthenoteratozoospermia.

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Primary ovarian insufficiency due to homozygous variants in the homeobox transcription factor NOBOX.

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Establishment of Rat Models Mimicking Gender-affirming Hormone Therapies
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Monogenic Forms of DSD: An Update.

Kenneth McElreavey1, Anu Bashamboo1

  • 1Human Developmental Genetics, Institut Pasteur, Paris, France.

Hormone Research in Paediatrics
|December 28, 2021
PubMed
Summary

Genomic sequencing is advancing the identification of genetic causes for disorders of sex development (DSD). This review highlights new candidate genes and phenotypes, aiding accurate genetic diagnosis for DSD conditions.

Area of Science:

  • Genetics
  • Endocrinology
  • Developmental Biology

Background:

  • Disorders of Sex Development (DSD) involve diverse pathologies affecting gonad development and function in individuals with 46,XX or 46,XY karyotypes.
  • While often monogenic, DSD genetic etiology is challenging due to limited family studies and lack of evolutionary conservation in key gonad formation genes.
  • Recent advances in genomic sequencing have identified numerous novel candidate genes for 46,XX and 46,XY DSD.

Purpose of the Study:

  • To review recent genomic findings in DSD, including novel candidate genes and loci.
  • To summarize evidence for or against the role of identified genes in DSD.
  • To examine new reproductive phenotypes associated with established DSD genes.

Main Methods:

  • Literature review focusing on recent genomic discoveries in DSD.
Keywords:
Disorders/differences of sex developmentGonadal dysgenesisMonogenic disorders

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  • Analysis of data supporting or refuting gene involvement in DSD.
  • Evaluation of genomic variants in known DSD genes contributing to new phenotypes.

    • Main Results:

    • Identification of new candidate genes and loci implicated in DSD etiology.
    • Characterization of novel reproductive phenotypes linked to previously identified DSD genes.
    • Assessment of the evidence supporting the role of these genetic factors.

    Conclusions:

    • Genomic research is rapidly expanding the understanding of DSD genetic underpinnings.
    • New insights are emerging regarding gene-phenotype correlations in DSD.
    • Recommendations are proposed to enhance genomic data interpretation for improved DSD genetic diagnosis.