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An X;9 translocation, primary amenorrhea, and hypothalamic dysfunction.

H A Gardner, J K McConnon, M A MacKenzie

American Journal of Medical Genetics

|April 1, 1983

Summary

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A 16-year-old girl with delayed puberty and primary amenorrhea had a rare de novo X;9 translocation. This genetic abnormality likely caused hypothalamic dysfunction, impacting her reproductive development.

Area of Science:

Genetics
Reproductive Endocrinology
Human Physiology

Background:

Delayed puberty and primary amenorrhea are significant clinical presentations requiring thorough etiological investigation.
Chromosomal abnormalities, particularly X chromosome translocations, can disrupt normal development and reproductive function.
Understanding the genetic basis of reproductive disorders is crucial for diagnosis and management.

Observation:

A 16-year-old female presented with delayed puberty and primary amenorrhea.
She was diagnosed with a de novo reciprocal X;9 translocation, with the normal X chromosome being heterochromatic.
Hormonal evaluation revealed low estrogen and estradiol levels, with borderline low follicle-stimulating hormone (FSH) and luteinizing hormone (LH) levels.

Findings:

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The patient exhibited a diminished response to clomiphene citrate, suggesting a potential hypothalamic dysfunction.
The X chromosome breakpoint was located at Xp22, outside the established critical region for female reproductive function.
This case represents a novel association between an X;autosome translocation and hypothalamic dysfunction.

Implications:

This case highlights the potential for de novo X;autosome translocations, even with breakpoints outside critical regions, to cause reproductive abnormalities.
The findings suggest that hypothalamic dysfunction may be an unreported consequence of such chromosomal rearrangements.
Further research into the mechanisms linking chromosomal abnormalities to neuroendocrine function is warranted.