Recessive versus imprinted disorder: consanguinity can impede establishing the diagnosis of autosomal dominant pseudohypoparathyroidism type Ib

Turan S., Akin L., Akcay T., Adal E., Sarikaya S., Bastepe M., ...More

EUROPEAN JOURNAL OF ENDOCRINOLOGY, vol.163, no.3, pp.489-493, 2010 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 163 Issue: 3
  • Publication Date: 2010
  • Doi Number: 10.1530/eje-10-0348
  • Journal Name: EUROPEAN JOURNAL OF ENDOCRINOLOGY
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.489-493
  • Marmara University Affiliated: Yes

Abstract

Hypocalcemia and hyperphosphatemia with low/normal parathyroid hormone (PTH) levels can be observed in hypoparathyroidism (HP), a disorder that may follow an autosomal dominant (AD) or autosomal recessive (AR) mode of inheritance. Similar biochemical changes are also observed in pseudohypoparathyroidism (PHP) type Ia and Ib, but affected patients usually show elevated PTH levels indicative of hormonal resistance. Features of Albright's hereditary osteodystrophy (AHO) are typically not observed in patients affected by familial forms of PHP-Ib, which are most frequently caused by maternally inherited, heterozygous microdeletions within STX16 and are associated with isolated loss of methylation at GNAS exon A/B.