Multiple hormonal resistances: Diagnosis, evaluation and therapy.
Molecular alterations of cAMP-mediated signaling affect primarily the signaling of the PTH/PTHrp receptor, and, with different severities the signaling of other hormones, including TSH. The identification of PTH and other hormonal resistances implies to look for the genetic disorder supporting the metabolic disorder.
Endocrinology and diabetology for children, Paris 11 University, French center of reference for rare disorders of calcium and phosphorus metabolism, Bicêtre-Paris-Sud Hospital, Le Kremlin-Bicêtre, France; Inserm U1169, Bicêtre-Paris-Sud Hospital, Le Kremlin-Bicêtre, France. Electronic address: agnes.linglart@bct.aphp.fr.
Agnès
A
Linglart
Inserm U1169, Bicêtre-Paris-Sud Hospital, Le Kremlin-Bicêtre, France.
Caroline
C
Silve
Endocrinology and diabetology for children, Paris 11 University, French center of reference for rare disorders of calcium and phosphorus metabolism, Bicêtre-Paris-Sud Hospital, Le Kremlin-Bicêtre, France; Inserm U1169, Bicêtre-Paris-Sud Hospital, Le Kremlin-Bicêtre, France.
Anya
A
Rothenbuhler
D006801:Humans; D010279:Parathyroid Diseases / Q000175:diagnosis / Q000503:physiopathology / Q000628:therapy*; D010281:Parathyroid Hormone / Q000502:physiology*; D011547:Pseudohypoparathyroidism / Q000235:genetics / Q000628:therapy; D018016:Receptors, Parathyroid Hormone / Q000235:genetics / Q000378:metabolism; D013972:Thyrotropin / Q000502:physiology
D010281:Parathyroid Hormone; D018016:Receptors, Parathyroid Hormone; D013972:Thyrotropin
Acrodysostose; Acrodysostosis; G-protein coupled receptor; PTH resistance; Pseudohypoparathyroidie; Pseudohypoparathyroidism; Récepteur couplé aux protéines G; Résistance à la PTH