hrp0097p1-478 | Fetal, Neonatal Endocrinology and Metabolism | ESPE2023

Whole-exome sequencing results in patients with congenital hyperinsulinism.

Melikyan Maria , Gubaeva Diliara , Bolmasova Anna , Kolodkina Anna , Tiulpakov Anatoly , Bogdanov Viktor , Peterkova Valentina

Background: Congenital hyperinsulinism (CHI) is a heterogeneous group of disorders, characterized by hypoglycemia due to inappropriate insulin secretion. Despite huge progress in understanding the pathophysiology of CHI, its etiology remains unknown in about 30% of cases.Aim: To perform whole-exome sequencing in patients with CHI.Results: A total of 314 patients with congenital hyp...

hrp0095p2-114 | Fat, Metabolism and Obesity | ESPE2022

Leptin receptor deficiency: a case report

Zufarova Yulduz , Kolodkina Anna , Tiulpakov Anatoly

Background: Leptin receptor deficiency leads to severe early-onset obesity and pituitary dysfunction. Here we present the first case of monogenic obesity due to a novel mutation in LEPR gene in Russia.Case report: 16-year-old female patient was admitted to our hospital with morbid obesity and primary amenorrhea. She was born at term with a birth weight of 3360 g to non-consanguineous parents. She had a mild deve...

hrp0095p2-217 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

A rare case of Cystic fibrosis and Pallister-Hall syndrome combination in a 3-year-old boy

Khabibullina Dina , Novokreshhennyx Evgeniya , Kolodkina Anna

Introduction: Pallister-Hall syndrome (PHS) is a rare disease with autosomal dominant pattern of inheritance caused by CHD7 gene mutation and characterized by epiglottis malformation, polydactyly or oligodactyly, hypothalamic hamartoma and visceral abnormalities. Central precocious puberty is the most common endocrine abnormality detected in PHS. Regardless isolated growth hormone deficiency, pan hypopituitarism and genitourinary malformation are reported in P...

hrp0089p3-p274 | Multisystem Endocrine Disorders P3 | ESPE2018

The Case of Combination of Multinodular Goiter and Sertoli-Leydig Cell Ovarian Tumor due to Mutation in DICER1 Gene

Kolodkina Anna , Makretskaya Nina , Tiulpakov Anatoly

Background: Pathogenic germline DICER1 variants cause a hereditary cancer predisposition syndrome with a variety of manifestation. In addition to conferring increased cancer risks for pleuropulmonary blastoma (PPB) and ovarian sex cord-stromal tumors, particularly Sertoli–Leydig cell tumor, individuals with pathogenic germline DICER1 variants could also have lung cysts, cystic nephroma, multinodular goiter, ciliary body medulloepithelioma, genitourinary embryonal rhabdomy...

hrp0094p2-441 | Sex differentiation, gonads and gynaecology or sex endocrinology | ESPE2021

Clinical case of premature ovarian failure in combination with blepharophimosis-ptosis-epicanthus inversus due to mutation in FOXL2 gene

Enikeeva Sofia , Kolodkina Anna , Tihonovich Julia

Clinical Case Description: Patient, 14 years 6 months old, complained of irregular menstrual cycle. On clinical examination, sexual development was Tanner 4, Me at 13 years old, the girl had 3 menses, with a last delay up to 8 months. Single terminal hairs along the white line of the abdomen, areola. The patient had epicanthus and narrowed eye slits of different sizes. She was operated on for congenital blepharophimosis in infancy. No one has similar problem...

hrp0097p2-241 | Late Breaking | ESPE2023

Primary hyperparathyroidism in children

Benina Anastasia , Kolodkina Anna , Bezlepkina Olga

Key words: primary hyperparathyroidism, parathyroid gland, genetic study.Background: Primary hyperparathyroidism (PHPT) is a rare disease with a prevalence up to 2-5:100,000. About 90-95% of cases are isolated adenomas, 5-10% cases are due to hereditary syndromes. Parathyroid carcinomas occur in less than 1%.Aim: To study clinical features and genetic characteristics of patients wi...

hrp0089p3-p051 | Bone, Growth Plate & Mineral Metabolism P3 | ESPE2018

Clinical and Genetic Evaluations of Three Patients with Vitamin D Dependent Rickets Type 1A

Kulikova Kristina , Kolodkina Anna , Vasiliev Eugeny , Petrov Vasily , Tiulpakov Anatoly

Vitamin D dependent rickets type 1A (VDDR-IA) is inherited in an autosomal recessive pattern and caused by mutations in CYP27B1 gene encoding enzyme 1α-hydroxylase. Deficiency of 1α-hydroxylase leads to decrease of 1,25(OH)2 vitamin D production. VDDR-IA usually manifests clinically during the 1st year of life. Clinical features of VDDR- IA include progressive growth retardation, hypotonia, rachitic skeletal deformities, hypocalcemic seizures in early infancy. Serum ...

hrp0086p2-p390 | Gonads & DSD P2 | ESPE2016

Three Cases of NR5A1 (SF1) Gene Mutations in DSD Patients

Raygorodskaya Nadezda , Bolotova Nina , Kolodkina Anna , Dronova Elena

Background: NR5A1 mutations in DSD patients result in a wide range of clinical manifestations.Objective and hypotheses: To evaluate the clinical variability of ambiguous phenotypes and the gender assignment in DSD patients with SF1 mutations.Method: Clinical examination, hormonal tests, ultrasound, laparoscopy and molecular analyses, including direct and parallel sequencingResults: Case 1. A girl, aged 18 mon...

hrp0084p2-324 | DSD | ESPE2015

DSD 46,XY and Serum Steroid Profile Ambiguity due to Combined 17-Beta Hydroxysteroid Dehydrogenase/21-Hydroxylase Deficiencies

Kuznetsova Elena , Ioutsi Vitaliy , Kolodkina Anna , Kalinchenko Natalia , Tiulpakov Anatoly

Background: An accurate and comprehensive assessment of steroid hormones is pivotal for differential diagnosis of disorders of sex development (DSD) 46,XY, a part of which may be due to defects of testosterone biosynthesis.Objective and hypotheses: To describe and characterise a case of DSD 46,XY presented with unusual serum steroid profile.Method: Serum steroid hormones were analysed by liquid chromatography-tandem mass spectromet...

hrp0097p1-555 | Pituitary, Neuroendocrinology and Puberty | ESPE2023

Genetic bases of familial central precocious puberty

Khabibullina Dina , Kolodkina Anna , Bezlepkina Olga , Peterkova Valentina

Background: Nowadays, single nucleotide polymorphisms in genes KISS1, KISS1R, MKRN3, DLK1 have been described as the leading cause of precocious hypothalamic-pituitary axis activation in children. Genetic testing in patients with hereditary forms of precocious puberty (PP) can expand our knowledge in underlying molecular mechanisms of the disease. The diagnosis of genetic bases is necessary for genetic counselling.Aim: T...