Catch-up Growth and Discontinuation of Fludrocortisone Treatment in Aldosterone Synthase Deficiency

GÜRPINAR TOSUN B., Demirkol Y. K., SEVEN MENEVŞE T., KAYGUSUZ S. B., Ozbek M. N., ALTINCIK S. A., ...Daha Fazla

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, cilt.107, sa.1, 2022 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 107 Sayı: 1
  • Basım Tarihi: 2022
  • Doi Numarası: 10.1210/clinem/dgab619
  • Dergi Adı: JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, PASCAL, Agricultural & Environmental Science Database, BIOSIS, CAB Abstracts, Chemical Abstracts Core, CINAHL, EMBASE, Food Science & Technology Abstracts, Gender Studies Database, MEDLINE, Veterinary Science Database
  • Anahtar Kelimeler: aldosterone synthase deficiency, hypoaldosteronism, CYP11B2, catch-up growth, steroid hormone profile, follow-up, children, CONGENITAL ADRENAL-HYPERPLASIA, SEQUENCE VARIANTS, DISORDERS, MUTATION, CYP11B2, BIOSYNTHESIS, ASSOCIATION, MECHANISMS, BALANCE, TYPE-1
  • Gazi Üniversitesi Adresli: Evet

Özet

Background: Aldosterone synthase deficiency (ASD) caused by mutations in the CYP11B2 gene is characterized by isolated mineralocorticoid deficiency. Data are scarce regarding clinical and biochemical outcomes of the disease in the follow-up.