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Endocrine function and diagnostic problems in a prepubertal case of 48,XXYY
Journal De Genetique Humaine
|December 1, 1978
Summary
This case study describes a five-year-old boy with 48,XXYY syndrome, noting mild intellectual disability and bone anomalies. Endocrine tests showed normal results, with a slight increase in luteinizing hormone (LH) levels and response to stimulation.
Area of Science:
- Genetics
- Endocrinology
- Pediatrics
Background:
- 48,XXYY syndrome is a rare chromosomal abnormality in males.
- It is characterized by the presence of an extra Y chromosome.
- Clinical manifestations can be variable, including developmental and physical anomalies.
Observation:
- A five-year-old boy with 48,XXYY karyotype was evaluated.
- The patient presented with normal external genitalia, minor bone anomalies, and mild mental retardation.
- Endocrine assessment was performed, including response to gonadotropin-releasing hormone stimulation.
Findings:
- The endocrine examination revealed generally normal hormone levels.
- A slight elevation in luteinizing hormone (LH) values was observed.
- An enhanced LH response to LH-releasing hormone (LH-RH) stimulation was noted.
Implications:
- This case highlights the phenotypic variability of 48,XXYY syndrome.
- Further investigation into the endocrine profile, particularly LH dynamics, may be warranted in affected individuals.
- Understanding these variations aids in comprehensive patient management and genetic counseling.