Rare Causes of Primary Adrenal Insufficiency: Genetic and Clinical Characterization of a Large Nationwide Cohort

GÜRAN T., Buonocore F., Saka N., Ozbek M. N. , Aycan Z., BEREKET A., ...Daha Fazla

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, cilt.101, ss.283-291, 2016 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Cilt numarası: 101 Konu: 1
  • Basım Tarihi: 2016
  • Doi Numarası: 10.1210/jc.2015-3250
  • Dergi Adı: JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
  • Sayfa Sayıları: ss.283-291

Özet

Context: Primary adrenal insufficiency (PAI) is a life-threatening condition that is often due to monogenic causes in children. Although congenital adrenal hyperplasia occurs commonly, several other important molecular causes have been reported, often with overlapping clinical and biochemical features. The relative prevalence of these conditions is not known, but making a specific diagnosis can have important implications for management.