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

GÜRPINAR TOSUN, BUŞRA; Demirkol, Yasemin; SEVEN MENEVŞE, TUBA; KAYGUSUZ, SARE; Ozbek, Mehmet; ALTINCIK, SELDA; Mammadova, Jamala; Cayir, Atilla; DÖĞER, ESRA; Bayramoglu, Elvan; Nalbantoglu, Ozlem; Mutlu, Gul; Aghayev, AghaRza; DEMİRCİOĞLU, SERAP; BEREKET, ABDULLAH; GÜRAN, TÜLAY

doi:10.1210/clinem/dgab619

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

Copy For Citation

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)

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.