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

Tülay Güran | Zendy; Federica Buonocore | Zendy; Nurçin Saka | Zendy; Mehmet Nuri Özbek | Zendy; Zehra Aycan | Zendy; Abdullah Bereket | Zendy; Firdevs Baş | Zendy; Şükran Darcan | Zendy; Aysun Bıdecı | Zendy; Ayla Güven | Zendy; Korcan Demir | Zendy; Ayşehan Akıncı | Zendy; Muammer Büyükinan | Zendy; Banu Küçükemre Aydın | Zendy; Serap Turan | Zendy; Sebahat Yılmaz Ağladıoğlu | Zendy; Zeynep Atay | Zendy; Zehra Yavaş Abalı | Zendy; Ömer Tarım | Zendy; Gönül Çatlı | Zendy; Bilgin Yüksel | Zendy; Teoman Akçay | Zendy; Metin Yıldız | Zendy; Samim Özen | Zendy; Esra Döğer | Zendy; Hüseyin Demirbilek | Zendy; Ahmet Uçar | Zendy; Emregül Işık | Zendy; Bayram Özhan | Zendy; Semih Bolu | Zendy; İlker Tolga Özgen | Zendy; Jenifer P. Suntharalingham | Zendy; John C. Achermann | Zendy

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

Author(s) -

Tülay Güran,

Federica Buonocore,

Nurçin Saka,

Mehmet Nuri Özbek,

Zehra Aycan,

Abdullah Bereket,

Firdevs Baş,

Şükran Darcan,

Aysun Bıdecı,

Ayla Güven,

Korcan Demir,

Ayşehan Akıncı,

Muammer Büyükinan,

Banu Küçükemre Aydın,

Serap Turan,

Sebahat Yılmaz Ağladıoğlu,

Zeynep Atay,

Zehra Yavaş Abalı,

Ömer Tarım,

Gönül Çatlı,

Bilgin Yüksel,

Teoman Akçay,

Metin Yıldız,

Samim Özen,

Esra Döğer,

Hüseyin Demirbilek,

Ahmet Uçar,

Emregül Işık,

Bayram Özhan,

Semih Bolu,

İlker Tolga Özgen,

Jenifer P. Suntharalingham,

John C. Achermann

Publication year - 2015

Publication title -

the journal of clinical endocrinology and metabolism

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 2.206

H-Index - 353

eISSN - 1945-7197

pISSN - 0021-972X

DOI - 10.1210/jc.2015-3250

Subject(s) - etiology , congenital adrenal hyperplasia , medicine , adrenal insufficiency , pediatrics , cohort , genetic counseling , primary adrenal insufficiency , genetics , biology

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.

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