Approach to the type pseudohypoparathyroidism I b patient with multiple endocrine dysfunctions and multiple organ abnormalities

Abstract

[Summary] A 24 years old male patient with growth retardation revealed,anemia,obvious fluctuation of serum calcium,phosphorus and intact parathyroid hormone and obvious elevation of adrenocorticotropic hormone (ACTH) and gonadotropin.The dysplasia of adrenal gland,testis and skeleton,accompanied with pulmonary hypertension were shown by the imaging examination.The gene test showed loss of exon 1 A methylation,the patient was diagnosed as a case of pseudohypoparathyroidism (PHP) Ⅰ b.This case suggests that a new patient with growth retardation should be approached with the possibility of PHP,with regard of complicated clinical manifestation and needs further gene testing. Key words: Pseudohypoparathyroidism; GNASI gene ; Calcium/phosphorus; Methylation specific polymerase chain reaction