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...

hrp0095p1-403 | Adrenals and HPA Axis | ESPE2022

Outcomes of treatment in pediatric Cushing`s disease

Yanar Eda , Makazan Nadezhda , Kareva Maria

Objective: The first line of treatment for Cushing`s disease (CD) is transsphenoidal surgery (TSS), whose effectiveness range is from 70 to 90%. If surgical treatment is unsuccessful or recurrence appears, radiation treatment (RT) is the next therapeutic option, which effectiveness range is also 90%, but the hypopituitarism rate as side effect of treatment is higher.Aim: Analysis of recurrence rates of CD and side ...

hrp0092p2-212 | Multisystem Endocrine Disorders | ESPE2019

Unusual Ovary Formation in a Girl with McCune-Albright Syndrome

Makazan Nadezhda , Orlova Elizaveta , Artemova Alla , Vladimirova Victoria , Vorontsov Aleksandr , Kareva Maria , Peterkova Valentina

McCune-Albright syndrome (MAS) is a rare disorder caused by somatic mutations in GNAS gene leading to fibrous dysplasia (FD), cafe-au-lait spots and hyperfunctioning endocrinopathies. The common feature of MAS in girls is peripheral precocious puberty (PP) with the recurrent ovary cysts. Few cases of ovary tumors have been described to date.8,5 year-old girl with MAS is closely observed in our centre since the age 4,5, when the diagnosis was est...

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...

hrp0086p1-p252 | Diabetes P1 | ESPE2016

Clinical Case of a 10-year-old Girl with Papillomatosis Due to Severe Insulin Resistance Type A

Orlova Elizaveta , Makazan Nadezhda , Kareva Maria , Mayorov Alexandr , Koksharova Ekaterina , Peterkova Valentina

Background: Severe insulin resistant (IR) type A is a rare inherited disorder characterized by glucose metabolism disturbances without obesity, acanthosis nigricans and hyperandrogenia due to INSR defects.Case report: A 10-year-old girl was admitted because of skin papillomatosis and hyperpigmentations since her 7 years. She had early puberty with pubarche at 8 years and telarche at 9 years. Examination revealed normal height and weight (SDS BMI...

hrp0086p1-p696 | Endocrinology and Multisystemic Diseases P1 | ESPE2016

Variable Phenotype and Genetic Findings in a Cohort of Patients with Pseudohypoparathyroidism

Makazan Nadezhda , Orlova Elizaveta , Kareva Maria , Kalinchenko Natalia , Tozliyan Elena , Dedov Ivan , Peterkova Valentina

Background: Pseudohypoparathyroidism is a group of rare disorders characterized by tissue insensitivity to PTH and Albright hereditary osteodystrophy (AHO) due to inactivating mutations or epigenetic defects of the GNAS.Objective and hypotheses: Clinical features and molecular characteristics of patients with PHP have been examined.Method: We included 28 patients from 26 families with PHP1a and 1b. GNAS mutation analysis w...

hrp0094p2-18 | Adrenals and HPA Axis | ESPE2021

Cushing’s disease treatment results correlation with pituitary MRI in children

Yanar Eda , Makazan Nadezhda , Kareva Maria , Vorontsov Alexandr , Vladimirova Victoria , Peterkova Valentina ,

Objective: Transsphenoidal surgery (TSS) is a treatment of choice for Cushing`s disease (CD), whose effectiveness range is from 70 to 90%. Recurrence rate after successful treatment is about 25%. Preoperative predictors of remission and recurrence are still unexplored what leads to further investigations.Aim: Analysis of remission and recurrence rates of CD after radical treatment according to preoperative MRI....

hrp0089p1-p193 | Multisystem Endocrine Disorders P1 | ESPE2018

McCune-Albright-Syndrome: Clinical and Genetic Study in a Large Cohort of Pediatric Patients

Makazan Nadezhda , Orlova Elizaveta , Kareva Maria , Kalinchenko Natalia , Kolodkina Anna , Zubkova Natalia , Vasiliev Evgeniy , Tiulpakov Anatoly , Peterkova Valentina

Background: McCune-Albright-Syndrome (MAS) is an extremely rare multisystem disorder that affects bones (fibrous dysplasia), skin (cafe-au-lait spots) and endocrine organs (hyperfunctioning endocrinopathies) and is caused by somatic mutations in GNAS gene.Materials and methods: We have evaluated 55 pediatric patients (44 girls (G) and 11 boys (B)) diagnosed in the period of 20 years. Mutation analyses using competitive allele-specific TaqMan PCR...