hrp0092p1-415 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology (2) | ESPE2019

Clinical and Molecular Characteristics of Russian Patients with 46,XY DSD due to NR5A1 Gene Mutations.

Kalinchenko Natalia , Petrov Vasiliy , Vasiliev Evgeniy , Tiulpakov Anatoly

Background: Steroidogenic factor 1 (encoded by the NR5A1gene) is a transcriptional regulator of genes involved in gonadal development and steroidogenesis. Mutations in NR5A1 have been identified among the most frequently genetic causes of disorders of sex development (DSD).Objective: To report the phenotype of 31 patients associated with 17 novel and 9 previously described NR5A1 sequence varian...

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...

hrp0095p2-6 | Adrenals and HPA Axis | ESPE2022

High carrier frequency of a nonsense p.W230X variant in HSD3B2 gene among Ossetians

Makretskaya , Kalinchenko Natalia , Tebieva Inna , Ionova Sofya , Marakhonov Andrey , Tiulpakov Anatoly , Zinchenko Nina Rena

Background: Congenital adrenal hyperplasia (CAH) caused by 3ß-HSD deficiency is a rare form of congenital adrenal deficiency with an autosomal recessive type of inheritance. We have previously demonstrated that a single nucleotide variant NM_000198.3:c.690G>A (P.W230X) in the homozygous state is a frequent cause of CAH among the indigenous population of North Ossetia-Alania represented by Ossetians.Aims: To stud...

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...

hrp0094p2-364 | Pituitary, neuroendocrinology and puberty | ESPE2021

Congenital hypogonadotropic hypogonadism associated with X-linked ichthyosis due to X-chromosome microdeletion identified by chromosomal microarray

Kokoreva Kristina , Chugunov Igor , Kalinchenko Natalia , Latyshev Oleg , Samsonova Lyubov , Bezlepkina Olga ,

Objective: to assess diagnostic usefulness and accuracy of different tools in patients with Kallmann syndrome and ichthyosis due to X-chromosome microdeletion.Materials: сongenital hypogonadotropic hypogonadism due to KAL1 pathological variants manifest with micropenis, cryptorchidism, delay of puberty, and not associated with disorder of sex development. This condition can be associated with ichthyosis due to deletion of X chromosome region with genes KAL...

hrp0097p1-577 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2023

High carrier frequency of a splicing c.589G>A variant in the SRD5A2 gene among Buryats

Makretskaya Nina , Nanzanova Ulyana , Kalinchenko Natalia , Hamaganova Irina , Eremina Elena , Filatova Alexandra , Skoblov Mikhail , Tiulpakov Anatoly

Background: 5-α-reductase type 2 enzyme catalyzes the conversion of testosterone into dihydrotestosterone, a potent androgen responsible for male sexual development during the fetal period. From 2017 to 2019, a homozygous hg38_chr2:31529414 C>T variant in SRD5A2 gene have been identified in 3 unrelated patients with DSD 46,XY of Buryat origin. The variant has been previously reported in one patient from China (Song et al, 2019) and l...

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...

hrp0084p1-114 | Puberty | ESPE2015

Screening of Mutations in Idiopathic Hypogonadotropic Hypogonadism Using a Targeted Next-Generation Sequencing Approach

Kolodkina Anna , Kareva Maria , Kalinchenko Natalia , Raygorodskaya Nadezhda , Malievsky Oleg , Fidelina Olga , Vasilyev Evgeny , Petrov Vasily , Naumova Maria , Tiulpakov Anatoly

Background: To date at least 30 genes are known to be associated with idiopathic hypogonadotropic hypogonadism (IHH). Analysis of all these gene candidates by Sanger sequencing would be expensive, labour-intensive and time-consuming. Recent introduction of next-generation sequencing (NGS) enables simultaneous analysis of multiple gene targets making it an attractive approach in such conditions as IHHObjective and hypotheses: To study the spectrum of mole...

hrp0094p1-43 | Sex Endocrinology and Gonads A | ESPE2021

Broad range of phenotypes in an international cohort of 75 DSD individuals with SF-1/NR5A1 variants

Kouri Chrysanthi , Sommer Grit , Ahmed Faisal , Balsamo Antonio , Baronio Federico , Bryce Jillian , Camats Nuria , Cetinkaya Semra , van der Grinten Hedi L Claahsen , Cools Martine , Darendeliler Fatma Feyza , Davies Justin H , Fabbri-Scallet Helena , Globa Evgenia , Guerra-Junior Gil , Guran Tulay , Hannema Sabine , Hiort Olaf , Janner Marco , Kalinchenko Natalia , Lachlan Katherine , Kolesinska Zofia , l’Allemand Dagmar , Lang-Muritano Mariarosaria , Lucas-Herald Angela , Martin Idoia Martinez de Lapiscina , Mazen Inas , Moenig Isabel , Muhrer Julia , Niedziela Marek , Nordenstrom Anna , Orman Burce , Poyrazoglu Sukran , Tack Lloyd , Tadokoro-Cuccaro Rieko , Wasniewska Malgorzata , Yavas Zehra , Zelinska Nataliya , Fluck Christa E ,

Background: Steroidogenic Factor 1 (NR5A1/SF-1) is essential for the development and function of human sex and steroid organs. Variants of SF-1 lead to a broad spectrum of phenotypes including adrenal insufficiency and differences of sex development (DSD), but data on the whole picture of phenotypes in individuals with SF-1 variants are currently lacking. We aim to investigate the phenotype of individuals with SF-1 variants in a large interna...