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[Pseudohypoparathyroidism: a familial case]. | LitMetric

[Pseudohypoparathyroidism: a familial case].

An Med Interna

Servicio de Cirugía Ortopédica, y Traumatología, Hospital Materno Infantil, Las Palmas de Gran Canaria.

Published: January 1993

AI Article Synopsis

  • Pseudohypoparathyroidism is a rare condition marked by low calcium levels in the blood despite high levels of parathyroid hormone (PTH).
  • There are three types of the disease, categorized based on urinary excretion of AMPc, presence of Albright's osteodystrophy, and how the body responds to additional PTH.
  • An example case describes a family where 6 out of 9 members across two generations were diagnosed with this condition.

Article Abstract

The pseudohypoparathyroidism is a rare disease which progresses with hypocalcemia despite the high levels of PTH. Clinically, there are three different types of pseudohypoparathyroidism, depending on the urinary elimination of AMPc, the presence of Albright's osteodystrophy and the response to exogenous PTH. It is detected occasionally, as it was the case of the family that we present here, in which 6 of the 9 members from the two last generations were affected by this entity.

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