hrp0084p1-149 | Miscelleaneous | ESPE2015

Recombinant Parathyroid Hormone (1-34) Replacement Treatment of Hypoparathyroidism in the Alfacalcidol-Resistant Patient with Severe Autoimmune Polyendocrinopathy Syndrome Type 1

Sozaeva Leila , Orlova Elizaveta , Kareva Maria

Background: Hypoparathyroidism (HPT) is present in 80% of patients with Autoimmune Polyendocrinopathy Syndrome type 1 (APS-1) – rare monogenic complex disease characterized also by adrenal failure, chronic candidiasis and a spectrum of other autoimmune disorders, including enteropathy and malabsorbtion. Active vitamin D and calcium are currently used for HPT treatment to maintain normal serum calcium levels.Objective and hypotheses: To describe a se...

hrp0092p2-9 | Adrenals and HPA Axis | ESPE2019

The Clinical Polymorphism and Variability of X-linked Adrenoleukodystrophy in One Russian Family

Sidorova Yuliya , Sozaeva Leila , Kareva Maria , Peterkova Valentina

Adrenoleukodystrophy is an X-linked, inherited metabolic disorder. Here, we present 3 clinical cases of different phenotypes with one mutation in ABCD1 gene in one family.Patient 1: At the age of 9 years, manifestation of neurological symptoms was observed, skin color changed, these symptoms progressed monthly. MRI of the brain showed 13 points on Loes scale.During the examination, the diagnosis of X-linke...

hrp0089p3-p052 | Bone, Growth Plate & Mineral Metabolism P3 | ESPE2018

A Rare Case of Familial Hypocalcemia

Sozaeva Leila , Yanar Eda , Tiulpakov Anotoly , Kareva Maria , Orlova Elizaveta

Objectives: Familial hypocalcemia is a rare autosomal dominant disease characterized by hypercalciuric hypocalcemia. The disorder is caused by heterozygous mutation in the CASR gene that encode a calcium-sensing receptor in parathyroid glands and kidney tubules.Clinical case: The boy was born at term from non-consanguineous parents with normal length and weight. On the second day of life he was admitted to an intensive care department with convu...

hrp0097p2-218 | Adrenals and HPA Axis | ESPE2023

Early manifestation of primary adrenal insufficiency in patients with X-linked adrenoleukodystrophy: clinical cases description

Enikeeva Sofia , Sozaeva Leila , Chugunov Igor , Kareva Maria

Keywords: Primary adrenal insufficiency, X-linked adrenoleukodystrophy, early manifestationBackground: The primary adrenal insufficiency (PAI) in patients with X-linked adrenoleukodystrophy (X-ALD) is known to develop commonly after three years of life and there are little cases with an early manifestation described. Here we report cases of early PAI manifestation in X-ALD patients.Clinical...

hrp0092p1-165 | Adrenals and HPA Axis (1) | ESPE2019

How the Level of Antibodies Against 21-Hydroxylase Changes with Time in Patients with Addison's Disease

Sozaeva Leila , Nikankina Larisa , Malysheva Natalia , Kareva Maria , Orlova Elizaveta , Peterkova Valentina

Objectives: To investigate changes in levels of autoantibodies(Abs) against 21-hydroxylase(21OH) in APECED patients and in patients with isolated primary autoimmune adrenal insufficiency (AI) over time after manifestation of AI.Methods: 24 patients with APECED with AI and 5 patients with isolated autoimmune AI were recruited. APECED was confirmed by finding at least two major components of the disease and/or two mutation...

hrp0089p2-p012 | Adrenals and HPA Axis P2 | ESPE2018

Autoantibodies Against 21-Hydroxylase in Prediction of Adrenal Failure in APECED Patients

Sozaeva Leila , Makazan Nadezhda , Nikankina Larisa , Kareva Maria , Orlova Elizaveta , Peterkova Valentina

Objectives: To investigate sensitivity, specificity and predictive values (PPV, NPP) of autoantibodies against 21-hydroxylase in APECED patients with and without adrenal insufficiency (AI) and in patients with other forms of AI.Methods: 42 patients with APECED and 24 patients with other forms of AI were recruited. APECED was confirmed by finding at least two major components of the disease and/or two mutations in AIRE gene and/or high levels of antibodie...

hrp0082p2-d3-488 | Endocrine Oncology | ESPE2014

High Prevalence of Diabetes Mellitus Among Patients with APS Type 1 in Russia

Orlova Elizaveta , Sozaeva Leila , Zilberman Lubov , Svetlova Galina , Kareva Maria , Ivanova Olga , Peterkova Valentina

Background: Diabetes mellitus (DM) is one of ‘minor’ components of autoimmune polyglandular syndrome type 1 (APS1). The prevalence of DM in APS1 varies from 2.5 to 18% in different populations.Objective and hypotheses: To study disease phenotype and genotype of APS1 patients with DM.Method: All patients diagnosed with DM were selected from the Russian registry of APS1 patients. Clinical data, AIRE-gene mutations and immun...

hrp0097p1-339 | Multisystem Endocrine Disorders | ESPE2023

Gastroenterological pathology in 7 patients with autoimmune polyglandular syndrome type 1

Frolova Elena , Kolodkina Anna , Zubkova Natalya , Sozaeva Leila , Usoltseva Olga , Tsvetkova Valeria , Anoushenko Anton

Background: APS type 1 is known to be associated with autoimmune gastroenterological pathology, which could be the very first and the worst-controlled manifestation of APS type 1. Treating these conditions in APS type 1 is debatable at present.Objective and hypotheses: We describe gastroenterological pathology in7 patients with APS type 1: clinical specifics, therapy, outcomes.Methods:</str...

hrp0084p2-202 | Adrenals | ESPE2015

Autoimmune Polyglandular Syndrome Type 1 in Russia: Clinical Experience in 112 Patients

Orlova Elizaveta , Sozaeva Leila , Kareva Maria , Oftedal Bergithe E , Breivik Lars , Knappskog Per M , Zakharova Ekaterina , Husebye Eystein S , Peterkova Valentina

Background: Autoimmune polyglandular syndrome type 1 (APS-1) is a rare disease associated with mutations in the autoimmune regulator (AIRE) gene and characterized by mucocutaneous candidiasis (CMC), hypoparathyroidism (HP) and primary adrenal insufficiency (AI). Two of these three components are required for diagnosis.Objective and hypotheses: To describe Russian patients in terms of clinical, genetic, and immunological parameters....