Familial isolated hypoparathyroidism: case report with serum PTHrP examination.
We report a family, with isolated hypoparathyroidism. The proband was a 24-year-old woman, who presented with paresthesia of both hands. She had a mild degree of extrapyramidal signs, such as rigidity and decrease in arm swinging. Laboratory examinations revealed low PTH levels, mild hypocalcemia and hyperphosphatemia in the proband, her father, a younger brother and a younger sister, whereas her mother had normal serum calcium, phosphorus and PTH levels. These results indicate that four members of the family were affected, suggesting autosomal dominant inheritance. Brain CT revealed calcification of basal ganglia in the proband, her father and a younger sister, but not in her younger brother. Serum PTH-related protein (PTHrP) levels were examined, and found to be slightly high only in the father of the proband.
Koshiyama
H
H
Department of Internal Medicine, Hyogo Prefectural Amagasaki Hospital, Japan.
Mori
S
S
Koh
T
T
Tatsuoka
Y
Y
Mune
T
T
Katakami
H
H
D000328:Adult; D001921:Brain / Q000000981:diagnostic imaging; D002114:Calcinosis / Q000097:blood / Q000000981:diagnostic imaging; D002118:Calcium / Q000097:blood; D005190:Family; D005260:Female; D006801:Humans; D007011:Hypoparathyroidism / Q000097:blood* / Q000175:diagnosis / Q000503:physiopathology; D008297:Male; D008875:Middle Aged; D010281:Parathyroid Hormone / Q000032:analysis*; D044162:Parathyroid Hormone-Related Protein; D010375:Pedigree; D010758:Phosphorus / Q000097:blood; D011506:Proteins / Q000032:analysis*; D014057:Tomography, X-Ray Computed
C470121:PTHLH protein, human; D010281:Parathyroid Hormone; D044162:Parathyroid Hormone-Related Protein; D011506:Proteins; D010758:Phosphorus; D002118:Calcium