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

GÜRAN, TÜLAY; Buonocore, Federica; Saka, Nurcin; Ozbek, Mehmet; Aycan, Zehra; BEREKET, ABDULLAH; BAŞ, Firdevs; DARCAN, ŞÜKRAN; Bideci, Aysun; Guven, Ayla; Demir, Korcan; Akinci, Aysehan; Buyukinan, Muammer; Aydin, Banu; Turan, Serap; Agladioglu, Sebahat; Atay, Zeynep; Abali, Zehra; Tarim, Omer; Catli, Gonul; Yuksel, Bilgin; Akcay, Teoman; Yildiz, Metin; Ozen, Samim; Doger, Esra; Demirbilek, HÜSEYİN; Ucar, Ahmet; Isik, Emregul; Ozhan, Bayram; Bolu, Semih; Ozgen, Ilker; Suntharalingham, Jenifer; Achermann, John

doi:10.1210/jc.2015-3250

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., ...More

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, vol.101, no.1, pp.283-291, 2016 (SCI-Expanded, Scopus)

Publication Type: Article / Article
Volume: 101 Issue: 1
Publication Date: 2016
Doi Number: 10.1210/jc.2015-3250
Journal Name: JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
Page Numbers: pp.283-291
Open Archive Collection: AVESIS Open Access Collection
Hacettepe University Affiliated: Yes

Abstract

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.