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Related Concept Videos

Sex-linked Disorders01:43

Sex-linked Disorders

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.
Human Genetics01:28

Human Genetics

Human genetics provides a profound framework for understanding the interplay between genetic predispositions and human psychology. At the heart of this discipline lies the study of how genes influence physical traits, behaviors, and susceptibility to diseases. Each person carries a unique genetic code that subtly or significantly shapes their psychological and behavioral landscape.
The complex relationship between genetics and psychology is observable through common biological components such...
Infertility in Males01:23

Infertility in Males

Male infertility affects millions of couples worldwide, arising from various factors that impact different stages of the reproductive process. An endocrine imbalance resulting from conditions like hypogonadism, Klinefelter syndrome, or pituitary disorders can disrupt hormone levels and reduce sperm production. Testicular defects, such as tumors, cryptorchidism, atrophic testes, abnormal sperm morphology, and low sperm count or motility, may arise due to genetic factors, structural...
Incomplete Dominance01:43

Incomplete Dominance

Gregor Mendel's work (1822 - 1884) was primarily focused on pea plants. Through his initial experiments, he determined that every gene in a diploid cell has two variants called alleles inherited from each parent. He suggested that amongst these two alleles, one allele is dominant in character and the other recessive. The combination of alleles determines the phenotype of a gene in an organism.
Genetic Lingo01:11

Genetic Lingo

Overview
X-linked Traits01:19

X-linked Traits

In most mammalian species, females have two X sex chromosomes and males have an X and Y. As a result, mutations on the X chromosome in females may be masked by the presence of a normal allele on the second X. In contrast, a mutation on the X chromosome in males more often causes observable biological defects, as there is no normal X to compensate. Trait variations arising from mutations on the X chromosome are called “X-linked”.

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In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
06:41

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Published on: August 20, 2019

Complex genetics in idiopathic hypogonadotropic hypogonadism.

Nelly Pitteloud, Sadia Durrani, Taneli Raivio

    Frontiers of Hormone Research
    |April 15, 2010
    PubMed
    Summary

    Idiopathic hypogonadotropic hypogonadism (IHH) is increasingly viewed as a digenic or oligogenic disorder, not strictly monogenic. Multiple genetic factors and environmental influences likely contribute to IHH

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    Area of Science:

    • Genetics
    • Endocrinology
    • Reproductive Biology

    Background:

    • Idiopathic hypogonadotropic hypogonadism (IHH) is a crucial model for studying sexual maturation and fertility.
    • Traditionally, IHH was considered a monogenic disorder, where a single gene defect causes the condition.
    • However, recent evidence challenges this paradigm, suggesting a more complex genetic basis.

    Purpose of the Study:

    • To re-evaluate the genetic underpinnings of Idiopathic hypogonadotropic hypogonadism (IHH).
    • To explore the potential digenic or oligogenic nature of IHH.
    • To investigate the influence of environmental factors on IHH pathogenesis and clinical presentation.

    Main Methods:

    • Review of existing genetic data and family studies in IHH.
    • Analysis of mutation penetrance, expressivity, and segregation patterns.
    • Consideration of adult-onset IHH and IHH reversal in disease models.

    Main Results:

    • Only 30% of IHH cases are explained by mutations in known genes, indicating other factors are involved.
    • Observed incomplete penetrance, variable expressivity, and multiple mutations within families suggest a non-monogenic inheritance.
    • IHH can manifest in adulthood and sometimes reverses, further complicating a simple monogenic model.

    Conclusions:

    • IHH is likely a digenic or oligogenic disease, influenced by multiple genes.
    • Hormonal and environmental factors play a significant role in IHH predisposition and disease course.
    • Future research should focus on polygenic interactions and epigenetic contributions to IHH.