A 22-year-old woman with hypocalcemia and clinical features of albright hereditary osteodystrophy diagnosed with sporadic pseudohypoparathyroidism type Ib using a methylation-specific multiplex ligation-dependent probe amplification assay.
A 22-year-old woman presented to us with seizures of a few minutes duration. She had clinical features of Albright hereditary osteodystrophy (AHO), including hypocalcemia, hyperphosphatemia and resistance to parathyroid hormone. Genetic testing revealed a sporadic form of pseudohypoparathyroidism type Ib (PHP-Ib). This is the first Japanese case involving overlap between pseudohypoparathyroidism type Ia (PHP Ia) associated with AHO and PHP Ib. It is important to perform both DNA sequencing and methylation status analyses in cases of suspected PHP in patients with signs of AHO.
Department of Neurology, National Hospital Organization Disaster Medical Center, Japan.
Satoshi
S
Zeniya
Akiko
A
Yuno
Takayuki
T
Watanabe
Takeshi
T
Usui
Yurie
Y
Moriki
Yoshitaka
Y
Uno
Hirotomo
H
Miake
D004247:DNA / Q000032:analysis*; D003937:Diagnosis, Differential; D005260:Female; D005820:Genetic Testing; D006801:Humans; D006996:Hypocalcemia / Q000150:complications / Q000175:diagnosis* / Q000235:genetics; D008745:Methylation; D060885:Multiplex Polymerase Chain Reaction / Q000379:methods*; D011547:Pseudohypoparathyroidism / Q000150:complications / Q000175:diagnosis* / Q000235:genetics; D055815:Young Adult
D004247:DNA