Login / Signup

Diagnosis and approach of pseudohypoparathyroidism type 1A and related disorders during long term follow-up: a case report.

Mónica Expósito RaspeñoVerónica Sánchez EscuderoGuiomar Perez de NanclaresMaría Ortiz SantamaríaRosa Sánchez-Dehesa SáezBeatriz García CuarteroAmparo González Vergaz
Published in: Journal of pediatric endocrinology & metabolism : JPEM (2024)
GNAS mutations should be considered in patients with obesity, ectopic ossifications and TSH resistance presented in early infancy. These cases emphasize the highly heterogeneous clinical picture PHP1A patients may present, especially in terms of final height and cognitive impairment.
Keyphrases
  • cognitive impairment
  • end stage renal disease
  • chronic kidney disease
  • newly diagnosed
  • metabolic syndrome
  • weight gain
  • body mass index
  • weight loss
  • peritoneal dialysis
  • skeletal muscle