[Type I familial pseudohypoparathyroidism: clinical and hormonal study].
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.
Arrieta
F J
FJ
Hospital Universitario Principe de Asturias, Universidad de Alcalá de Henares, Madrid.
Saavedra
P
P
Alvarez
C
C
Franco
P
P
Hernández
G
G
Varela
L
L
D000328:Adult; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D010281:Parathyroid Hormone; D011547:Pseudohypoparathyroidism / Q000145:classification / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology
D010281:Parathyroid Hormone
Pseudohipoparatiroidismo tipo I familiar: estudio clínico y hormonal.