A Case of Idiopathic Hypoparathyroidism with Albright's Hereditary Osteodystrophy

J Korean Neurol Assoc > Volume 9(3); 1991 > Article

Journal of the Korean Neurological Association 1991;9(3): 349-356.

Albright 선천성 골이영양증을 동반한 특발성 부갑상선기능저하증 1례

김진국, 변영주,박충서

영남대학교 신경과.

A Case of Idiopathic Hypoparathyroidism with Albright's Hereditary Osteodystrophy

Jin Kook Kim, M.D., Yeung Ju Byun, M.D., Choong Seo Park, M.D.

Dep. Of Neurology, Yeungnam University

Abstract

A 27 years old female patient who had some features of idiopathic hypoparathryoid manifestation such as hypocalcemica, hyperphosphatemia. Chronic tetany, no evidence of osteomalacia, rickets and renal insufficiency, also was found to have certain characteristic skeletal and developmental abnormalities :rounded face, short neck, thick-set stocky body habitus, brachymetatarsia and mental retardation, which are attributable to Albright's Hereditary Osteodystrophy. On the basis of a circulating immunoreative Parathormone level, this case could be considered as idiopathic hypoparathyrodism rather than psuedohypoparathyroidism, despite of Albright's Hereditary Osteodystrophy because the patient's circulating parathormone level is normal range in C-terminal radioimmunoassay system. Presumably, the suggested explanation about the patients normal range of immunoreative parathormone is that the hypoparathyroid state is not a deficiency of circulating parathormone but an ineffectiveness of acitve parathormone because of a defect in conversion of secreted proparatbyroid hormone into an active form as proposed by Nusynowitz et al.(l973) The similar concentrations in immunoreactive parathormone levels of patient's family in radioimmunoassay systems support this hypothesis. We concluded this case as idiopathic hypoparathyroidism with Albright's Hereditary Osteodystrophy.