Multiple hormone resistance and alterations of G-protein-coupled receptors signaling.
Best Pract Res Clin Endocrinol Metab
; 32(2): 141-154, 2018 04.
Article
en En
| MEDLINE
| ID: mdl-29678282
ABSTRACT
Metabolic disorders deriving from the non-responsiveness of target organs to hormones, which manifest clinically similar to the deficiency of a given hormone itself, derive from molecular alterations affecting specific hormone receptors. Pseudohypoparathyroidism (PHP) and related disorders exemplify an unusual form of hormone resistance as the underlying molecular defect is a partial deficiency of the α subunit of the stimulatory G protein (Gsα), a key regulator of cAMP signaling pathway, or, as more recently described, of downstream effector proteins of the same pathway, such as PKA regulatory subunit 1A (R1A) and phosphodyestarase type 4D (PDE4D). In this group of diseases, resistance to hormones such as PTH, TSH, gonadotropins and GHRH may be variably present, so that the clinical and molecular overlap among these different but related disorders represents a challenge for endocrinologists as to differential diagnosis and genetic counseling. This review will describe the presenting features of multiple resistance in PHP and related disorders, focusing on both our current understanding and future challenges.
Palabras clave
Texto completo:
1
Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Resistencia a Medicamentos
/
Enfermedades del Sistema Endocrino
/
Hormonas
Límite:
Humans
Idioma:
En
Revista:
Best Pract Res Clin Endocrinol Metab
Asunto de la revista:
ENDOCRINOLOGIA
/
METABOLISMO
Año:
2018
Tipo del documento:
Article