Pseudohypoparathyroidism, an often delayed diagnosis: a case series.
Pseudohypoparathyroidism refers to a heterogeneous group of disorders characterized by parathyroid hormone (PTH) resistance. Pseudohypoparathyroidism is an uncommon sporadic or inherited genetic disorder subdivided into several distinct entities (type Ia, Ib, Ic, type II). We report cases of four children (aged 8 to 13 years) in the winter season 2007-'08. The present work highlights the variable mode of presentation of pseudohypoparathyroidism and the difficulty of an early diagnosis. We stress the importance of a complete biochemical investigation of the calcium-phosphate metabolism to recognize typical biochemical alterations associated with this condition (hypocalcaemia, hyperphosphataemia with increased phosphate tubular reabsorption and elevated PTH levels) in spite of a phenotypic aspect that often lacks the presence of all the peculiar clinical features of Albright hereditary osteodistrophy.
Donghi
Valentina
V
Department of Pediatrics, Vita-Salute San Raffaele University, Via Olgettina 60, 20132 Milan, Italy. v.donghi@studenti.hsr.it
Mora
Stefano
S
Zamproni
Ilaria
I
Chiumello
Giuseppe
G
Weber
Giovanna
G