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., ...More

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, vol.107, no.1, 2022 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 107 Issue: 1
  • Publication Date: 2022
  • Doi Number: 10.1210/clinem/dgab619
  • Journal Name: JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
  • Journal Indexes: 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
  • Keywords: 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 University Affiliated: Yes

Abstract

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.