Arrieta F J, Saavedra P, Alvarez C, Franco P, Hernández G, Varela L
Hospital Universitario Principe de Asturias, Universidad de Alcalá de Henares, Madrid.
Rev Clin Esp. 1993 Sep;193(4):172-5.
Pseudohypoparathyroidism is a rare disease characterized by a target tissue resistance to the action of the parathyroid hormone (PTH). Frequently, others hormonal disorders can be associated. We report a family with pseudohypoparathyroidism type I, and discuss the clinical-hormonal alterations founded; it is emphasized that while there were no phenotypical differences among the family members; from the hormonal features point of view, some differences do exist, and several degrees of peripheral resistance were noted.
假性甲状旁腺功能减退症是一种罕见疾病,其特征为靶组织对甲状旁腺激素(PTH)的作用产生抵抗。通常,还可能伴有其他激素紊乱。我们报告了一个患有I型假性甲状旁腺功能减退症的家族,并讨论所发现的临床激素改变;需要强调的是,虽然家族成员之间没有表型差异,但从激素特征角度来看,确实存在一些差异,并且观察到了不同程度的外周抵抗。