Endocrine Abstracts

Introduction: Familial hypocalciuric hypercalcemia (FHH) is a rare, benign, autosomal dominant condition usually caused by heterozygous inactivating mutations in the gene encoding the calcium sensing receptor (CASR).Case: 22-year-old woman referred to endocrinology for suspected polycystic ovary syndrome. Hypercalcemia is detected. Laboratory tests showed persistent hypercalcemia with a serum total calcium of 11.1 mg/dl (8.8–10.2), phosphorus 2.8, i...

The clinical condition resulting from end-organ resistance to parathormone (rPTH), caused by (epi)genetic alterations of GNAS, was termed as Pseudohypoparathyroidism (PHP). The high phenotype heterogeneity, the existence of additional clinical features such as resistance to other hormones (TSH/GHRH/gonadotropins) and Albright’s hereditary osteodystrophy (AHO), led to the distinction of specific PHP subtypes.The purpose of the present work is to prov...

Background: Disorders caused by impairments in the parathyroid hormone (PTH) signaling pathway are historically classified under the term pseudohypoparathyroidism (PHP), that encompasses rare, related but highly heterogeneous diseases with demonstrated (epi)genetic causes. The actual classification is based on the presence or absence of specific clinical and biochemical signs together with an in vivo response to exogenous PTH and the results of an in vitro as...