ABSTRACT
Albright's hereditary osteodystrophy is a rare inherited metabolic disorder characterized by a typical phenotype. It may be associated with or without resistance to parathyroid hormone (pseudohypoparathyroidism). Both forms may co-exist in the same family. Pseudohypoparathyroidism Type 1 and Pseudo-pseudohypoparathyroidism occur as a consequence of reduced erythrocyte membrane coupled with Gs alpha activity. We report here the variable inheritance of hormone resistance in the presence of characteristic phenotype and reduced Gs alpha activity in the same family.
Subject(s)
Child , Female , Fibrous Dysplasia, Polyostotic/blood , GTP-Binding Protein alpha Subunits, Gs/blood , Genetic Diseases, Inborn , Humans , Pseudohypoparathyroidism/etiology , Pseudopseudohypoparathyroidism/etiologyABSTRACT
This study aimed to determine the post-ictal prolactin (PL) response in different types of seizures and seizure-like events in children, and correlate with the post-ictal duration. Patients were divided into group I (generalized tonic-clonic seizures, complex partial seizures or simple partial seizures), group II (febrile convulsions) and group III (conditions mimicking seizures). Group IV consisted of 25 controls. Blood was collected within 2 hours of the seizure and PL levels assayed. PL levels were significantly high only within group I; highest and baseline levels were attained within 10 minutes and by 100 minutes respectively. The sensitivity and specificity of elevated PL for epileptic seizures were 64 percent and 98 percent respectively. It is concluded that a high prolactin level within 100 minutes of a seizure is suggestive that a generalized or complex partial seizure has occurred.