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...

hrp0084p3-597 | Adrenals | ESPE2015

Generalised Glucocorticoid Resistance in an Adolescent Girl with Severe Hyperandrogenia without Mutations in NR3C1 Gene

Makazan Nadezhda , Orlova Elizaveta , Kareva Maria

Background: Generalised glucocorticoid resistance (Chrousos syndrome) is a rare inherited disease characterized by tissue insensitivity to glucocorticoids and associated with defects in human glucocorticoid receptor (hGR) gene (NR3C1, 138040). Despite of elevated serum and urine cortisol the patients do not develop clinical picture of Cushing syndrome but present with hyperandrogenia and hypertension.Case presentation: We present a case in which clinical...

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...

hrp0086p1-p29 | Adrenal P1 | ESPE2016

Testicular Adrenal Rest Tumours in Patient with X-Linked Adrenoleukodystrophy

Chugunov Igor , Kareva Maria , Orlova Elizaveta , Peterkova Valentina

Background: Testicular adrenal rest tumours (TARTs) are benign tumors consisting of cells with adrenal-like features in mediastinum of testes. TARTs occur in up to 94% of adult male patients with classic 21-hydroxylase deficiency and also have been described in patients with Cushing syndrome and acquired adrenal insufficiency. Poor disease control is thought to be one of the main predictive factors for TARTs development.Clinical case: A boy presented at ...

hrp0086p2-p50 | Adrenal P2 | ESPE2016

Ovarian Cysts in a 46,XX Patient with Congenital Lipoid Adrenal Hyperplasia and with Spontaneous Puberty

Kopylova Irina , Orlova Elizaveta , Yarovaya Irina , Kareva Maria , Peterkova Valentina

Background: Congenital lipoid adrenal hyperplasia (CLAH) is the most severe form of congenital adrenal hyperplasia, characterized by lack of synthesis of all kinds of steroids in adrenals and gonads due to defects in gene of Steroidogenic Acute Regulatory protein (StAR). 46,XX patients can have a spontaneous puberty due to residual estrogen synthesis by a StAR-independent pathway in ovary. Development of ovarian cysts may be derived from persistent anovulation and impairment o...

hrp0082p1-d3-15 | Adrenals & HP Axis (1) | ESPE2014

Testicular Adrenal Rest Tumors and Sertoli Cell Function in Adolescents with Cah

Chugunov Igor , Kareva Maria , Orlova Elizaveta , Kuznecova Elvira , Bogolubov Sergey

Background: Infertility is one of the major problems in adult males with congenital adrenal hyperplasia (CAH), associated with the development of testicular adrenal rest tumors (TART). Sertoli cell dysfunction could be diagnosed not only in adults but in adolescence.Objective and Hypotheses: To study Inhibin B and AMH levels in adolescents with CAH and TART and its diagnostics value in access of Sertoli cell function.Method: We stu...

hrp0082p2-d1-530 | Puberty and Neuroendocrinology | ESPE2014

The Vaginal Maturation Index as a Marker of Local Sensitivity to Estrogens in Girls with Congenital Adrenal Hyperplasia During Puberty

Kopylova Irina , Blokh Sofya , Orlova Elizaveta , Yarovaya Irina , Kareva Maria

Background: Introital stenosis is the main complication of vaginoplasty in females with Congenital Adrenal Hyperplasia (CAH) which could result from poor estrogenization of vaginal tissue during puberty.Objective and hypotheses: To evaluate the maturation of vaginal mucosa depending on the degree of compensation.Method: 19 adolescent girls with CAH (salt-wasting (SW) – 9, simple virilizing (SV) – 10; 15.9 years (14.4, 16....

hrp0084p1-56 | DSD | ESPE2015

Immunohistochemical Detection of Estrogen α and Androgen Receptors in Genital Tissues in Girls with Congenital Adrenal Hyperplasia

Kopylova Irina , Orlova Elizaveta , Sysoeva Veronika , Glybina Tatyana , Kareva Mariia

Background: Introital stenosis in CAH girls could occur due to poor estrogenisation of vaginal tissue. It is unknown whether CAH genital skin is equally capable of responding to estrogens and androgens, depending on form and degree of external virilisation.Objective and hypotheses: To determine the levels of oestrogen α (ERa) and androgen receptors (AR) immunoreactivity in genital tissues of girls with CAH.Method: Surgical was...

hrp0084p3-583 | Adrenals | ESPE2015

Insufficient Mineralocorticoid Replacement as a Predictor Factor for the TART in Boys with Congenital Adrenal Hyperplasia

Chugunov Igor , Kareva Maria , Orlova Elizaveta , Kuznecova Elvira

Background: Testicular adrenal rest tumor (TART) is one of the main causes of decreased fertility in men with congenital adrenal hyperplasia (CAH). TART may occurs in childhood but there is no currently identified factors influencing the development of this condition.Objective and hypotheses: To study the role of glucocorticoid and mineralocorticoid undertreatment in the TART development in children and adolescents with CAH, 21-hydroxylase deficiency.</p...

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...