J Korean Neurol Assoc.  1991 Sep;9(3):349-356.

A Case of Idiopathic Hypoparathyroidism with Albright's Hereditary Osteodystrophy

• Kim JK
• Byun YJ
• Park CS

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 same radioimmunoassay systems support this hypothesis. We concluded this case as idiopathic hypoparathyroidism with Albright's Hereditary Osteodystrophy.

MeSH Terms

Adult
Female
Humans
Hyperphosphatemia
Hypoparathyroidism*
Intellectual Disability
Neck
Osteomalacia
Parathyroid Hormone
Radioimmunoassay
Reference Values
Renal Insufficiency
Rickets
Tetany
Parathyroid Hormone