hrp0084p2-198 | Adrenals | ESPE2015

Incidence of Nonclassical 21-Hydroxylase Deficiency in Russian Population as Estimated by the Carrier Frequency of V281l Mutation

Anosova Tatiana , Tiulpakov Anatoly

Background: Nonclassical 21-hydroxylase deficiency (NC21OHD) is one of the most common monogenic diseases. Its frequency varies significantly among different ethnic groups. In Russians the frequency of NC21OHD is unknown.Objective and hypotheses: To estimate the incidence of NC21OHD in Russia based on the carrier frequencies of the two most common mutations associated with this disease (V281L and P30L).Method: A total of 998 random...

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...

hrp0089p2-p019 | Adrenals and HPA Axis P2 | ESPE2018

Two Cases of Apparent Mineralocorticoid Excess due to Novel Mutations in HSD11B2 Gene

Makretskaya Nina , Kostrova Irina , Tiulpakov Anatoly

Background: Human HSD11B2 metabolizes active cortisol into cortisone and protects the mineralocorticoid receptor from glucocorticoid occupancy. Loss of function mutations in HSD11B2 gene cause a rare autosomal recessive disorder, apparent mineralocorticoid excess, resulting in low-renin hypertension and hypokalemia.Objective: We present 2 children with apparent mineralocorticoid excess. Case 1, a boy presenting at 11 yea...

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...

hrp0084p3-977 | GH & IGF | ESPE2015

Congenital Hypopituitarism and Severe Developmental Delay Associated with Homozygous POU1F1 Mutation

Melikian Maria , Tiulpakov Anatoly , Gavrilova Anna

Background: Mutations in POU1F1 is a rare cause of combined pituitary hormone deficiency, which commonly includes GH, TSH and prolactin deficiencies and characterised by hypoplastic anterior pituitary.Objective and hypotheses: To present a case of severe short stature and developmental delay 1.5 years old girl, who was admitted to our hospital because of short stature.Method: Hypopituitarism panel’ genes were sequence...

hrp0092p1-206 | Fetal, Neonatal Endocrinology and Metabolism (to include Hypoglycaemia) (1) | ESPE2019

Unusual Congenital Hyperinsulinism Case in a Patient with a Pathogenic GCK Mutation

Gubaeva Diliara , Kareva Maria , Milovanova Natalia , Tiulpakov Anatoly , Melikyan Maria

Dominant activating mutations in GCK gene are known to be the cause of congenital hyperinsulinism (CHI). Patients with GCK mutations can have a wide range of clinical presentations, varying from asymptomatic adult onset hypoglycemia to medically unresponsive severe neonatal onset HI. Overall, 5 of 214 (2.3%) patients diagnosed with HI over the last 10 years in Russia were found to carry pathogenic variants of GCK gene. Only 2 of these 5 patients ...

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...

hrp0092p2-157 | GH and IGFs | ESPE2019

Long-Term Follow-Up of Three Patients with Isolated Growth Hormone Deficiency Type IA Withsustained Growth Response to rhGH

Makretskaya Nina , Babinskaya Svetlana , Chikulaeva Olga , Tiulpakov Anatoly

Background: Isolated growth hormone deficiency type IA (IGHD IA) is described in families with homozygous GH1 deletions that arise from unequal recombination and crossing over within the GH gene cluster during meiosis. Patients with IGHD IA show early and severe growth failure and tend to develop antibodies upon treatment with recombinant human growth hormone (rhGH).Aims: To present the follow−up of three ...

hrp0089rfc7.1 | Fetal, Neonatal Endocrinology and Metabolism | ESPE2018

Next Generation Sequencing Results in 142 Patients with Congenital Hyperinsulinism

Gubaeva Diliara , Melikyan Maria , Vasiliev Eugeny , Petrov Vasily , Tiulpakov Anatoly

Congenital hyperinsulinism (CHI) is a life-threatening disorder characterized by hypoglycemia due to dysregulated secretion of insulin from pancreatic β-cells. Genetic diagnosis is essential for patient management. NGS technologies give the ability to generate large amounts of sequence data in a relatively short amount of time. We report next generation sequencing (NGS) results in 142 patients (66 boys, 76 girls) with CHI seen at Endocrine Research Centre (Moscow...

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 ...