ESPE2021 ePoster Category 2 Adrenals and HPA Axis (57 abstracts)
Clinical and hormonal evolution of aldosterone synthase deficiency: Is complete remission possible?
Busra Gurpinar Tosun 1 , Yasemin Kendir Demirkol 2 , Tuba Seven Menevse 1 , Sare Betul Kaygusuz 1 , Mehmet Nuri Ozbek 3 , Selda Ayca Altincik 4 , Jammala Mammadova 5 , Atilla Cayir 6 , Esra Doger 7 , Elvan Bayramoglu 8 , Ozlem Nalbantoglu 9 , Gul Yesiltepe Mutlu 10 , AghaRza Aghayev 11 , Serap Turan 1 , Abdullah Bereket 1 & Tulay Guran 1
1Marmara University, Istanbul, Turkey; 2Umraniye Research and Training Hospital, Istanbul, Turkey; 3Gazi Yasargil Education and Research Hospital, Istanbul, Turkey; 4Pamukkale University, Denizli, Turkey; 5Ondokuz Mayis University, Samsun, Turkey; 6Erzurum Education and Research Hospital, Erzurum, Turkey; 7Gazi University, Ankara, Turkey; 8Haseki Training and Research Hospital, Istanbul, Turkey; 9Dr. Behcet Uz Children’s Hospital, Istanbul, Turkey; 10Koç University Hospital, Istanbul, Turkey; 11National Hematology and Transfusiology Center, Baku, Azerbaijan
Background: Aldosterone synthase deficiency (ASD) caused by mutations in the CYP11B2 gene is characterized by isolated mineralocorticoid deficiency. Data is scarce regarding clinical and biochemical outcomes of the disease in the follow-up.
Objective: Assessment of the growth and steroid profiles of patients with ASD at the time of diagnosis and after termination of treatment.
Design and method: Children with clinical diagnosis of ASD were included in a multicenter study. Growth and treatment characteristics were recorded.Plasma adrenal steroids were measured using liquid chromatography-mass spectrometry.Genetic diagnosis was confirmed by CYP11B2 gene sequencing and in silico analyses.
Results: Sixteen patients from 12 families were included (8 females; median age at presentation: 3.1 months, range: 0.4-8.1). The most common symptom was poor weight gain (56.3%).Median age of onset of fludrocortisone treatment was 3.6 months (0.9-8.3). Catch-up growth was achieved at median 2 months (0.5-14.5) after treatment. Fludrocortisone could be stopped in five patients at a median age of 6.0 years (2.2-7.6). Plasma steroid profiles revealed reduced aldosterone synthase activity both at diagnosis and after termination of treatment compared to age-matched controls.We identified six novel (p.Y195H, c.1200+1G>A, p.F130L, p.E198del, c.1122-18G>A, p.I339_E343del) and four previously described CYP11B2 variants. The most common variant was p.T185I (40%).
Conclusions: Fludrocortisone treatment is associated with a rapid catch-up growth and control of electrolyte imbalances in ASD. Decreased mineralocorticoid requirement over time can be explained by the development of physiological adaptation mechanisms rather than improved aldosterone synthase activity. As complete biochemical remission cannot be achieved, a long-term surveillance of these patients is required.
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