Related Experiment Videos
Primary hypoparathyroidism in Turner's syndrome
Y Suzuki1, H Watanabe, S Haeno
1Department of Clinical Genetics, Medical Institute of Bioregulation, Kyushu University, Beppu.
Internal Medicine (Tokyo, Japan)
|November 1, 1995
Summary
This case report details a 44-year-old woman with hypoparathyroidism and Turner
Area of Science:
- Endocrinology
- Genetics
- Neurology
Background:
- Turner's syndrome (45,X/46,XX mosaicism) is a chromosomal disorder typically associated with ovarian insufficiency.
- Hypoparathyroidism is a condition characterized by insufficient parathyroid hormone (PTH) production, leading to low calcium levels.
- Intracranial calcification can occur in various endocrine and metabolic disorders.
Observation:
- A 44-year-old woman presented with facial dystonia, deafness, and primary amenorrhea.
- Laboratory tests revealed decreased serum PTH levels and confirmed 45,X/46,XX mosaicism.
- Brain CT scan demonstrated significant calcification in the basal ganglia, cerebellum, and periventricular regions.
Findings:
- The patient exhibited symptoms consistent with hypoparathyroidism and Turner's syndrome.
- Mosaicism for Turner's syndrome was identified through genetic analysis.
- Marked intracranial calcification was observed on neuroimaging.
Implications:
- This case suggests a potential association between intracranial calcification and Turner's syndrome.
- The findings may prompt further investigation into the link between chromosomal abnormalities and neuroendocrine dysfunction.
- Antiparkinsonian drugs showed efficacy in managing the patient's dystonia, offering a therapeutic avenue.