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A family with X-linked ichthyosis and hypogonadism
M G Pike1, M Hammerton, J Edge
1Hospital for Sick Children, London, United Kingdom.
European Journal of Pediatrics
|February 1, 1989
Summary
This study details clinical, biochemical, and ophthalmic findings in males with X-linked ichthyosis and hypogonadism. Recognizing this association is crucial for pediatricians and dermatologists.
Area of Science:
- Genetics
- Dermatology
- Endocrinology
Background:
- X-linked ichthyosis is a genetic skin disorder.
- Hypogonadism affects reproductive development.
- These conditions can co-occur in males.
Observation:
- Four related males presented with both X-linked ichthyosis and hypogonadism.
- Clinical, biochemical, and ophthalmic examinations were performed.
- Detailed case studies were compiled.
Findings:
- The study documents the specific clinical manifestations of this dual diagnosis.
- Biochemical and ophthalmic results provide further insight into the condition.
- Genetic linkage is suggested due to familial occurrence.
Implications:
- Highlights the importance of recognizing the co-occurrence of X-linked ichthyosis and hypogonadism.
- Informs pediatricians and pediatric dermatologists for accurate diagnosis and management.
- Suggests potential underlying genetic pathways connecting these conditions.
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01:35Pedigree Analysis
Overview
01:19X-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”.
01:43Sex-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.
01:58X-Inactivation
The human X chromosome contains over ten times the number of genes as in the Y chromosome. Since males have only one X chromosome, and females have two, one might expect females to produce twice as many of the proteins, with undesirable results.
02:32X and Y Chromosomes
Among mammals, the gender of an organism is determined by the sex chromosomes. Humans have two sex chromosomes, X and Y. Every human diploid cell has 22 pairs of autosomes and one pair of sex chromosomes. A human female has two X chromosomes, while a male has one X chromosome and one Y chromosome.
The germline cells such as egg and sperm cells carry only half the number of chromosomes, i.e., 22 autosomes and one sex chromosome. All eggs have an X chromosome, while sperm cells can carry an X or...
The germline cells such as egg and sperm cells carry only half the number of chromosomes, i.e., 22 autosomes and one sex chromosome. All eggs have an X chromosome, while sperm cells can carry an X or...
01:19X-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”.