hrp0086p2-p430 | Gonads & DSD P2 | ESPE2016

Study of Genetics of Human Disorders of Sexual Development. Research Project.

Markosyan Renata

Disorders of sex development (DSD) are a group of congenital developmental disorders in which the chromosomal, gonadal, or anatomical sex is atypical. The clinical diagnosis and management of DSD are difficult and complex because of the various aetiology and diverse manifestation. The project ‘Genetics of Human Disorders of Sexual Development’ is funded by Swiss National Science Foundation and fulfilled by the University of Geneva Medical School (Switzerland), the Me...

hrp0086p2-p431 | Gonads & DSD P2 | ESPE2016

46XX Male Syndrome

Markosyan Renata

Background: The XX male syndrome – Testicular Disorder of Sexual Differentiation (DSD) is a rare condition characterized by a spectrum of clinical presentations, ranging from ambiguous to normal male genitalia. The project ‘Genetics of Human Disorders of Sexual Development’ is funded by Swiss National Science Foundation and fulfilled by the University of Geneva Medical School, the Medical Centers from Armenia, Poland and Ukraine. The goal is to identify mutation...

hrp0084p3-1056 | Growth | ESPE2015

GH Treatment for Idiopathic Short Stature

Markosyan Renata

Background: The purpose of this study was to analyse characteristics and evaluate the effectiveness and safety of treatment with recombinant GH (rGH) in children with idiopathic short stature (ISS).Method: Patients (n=54) were evaluated prospectively. Treatment was received by 27 patients with ISS during 1 year. The administration was done by the accepted methodology. The effectiveness of treatment was evaluated based on change in growing speed,...

hrp0095p2-22 | Adrenals and HPA Axis | ESPE2022

Two Familial Cases of Congenital Adrenal Hyperplasia Combined or Complicated with Central Precocious Puberty

Markosyan Renata , Aghajanova Yelena

Central precocious puberty (CPP) may be secondary to congenital adrenal hyperplasia (CAH), due to 21-hydroxylase deficiency. CPP in CAH may be associated with elevated sex-steroid levels and possibly a decline in negative sex-steroid feedback after treatment initiation. We experienced the two family cases of the salt-wasting form of the CAH, complicated by CPP with early maturation of the hypothalamic-pituitary-gonadal axis in all patients from two families.<p class="abste...

hrp0095p2-142 | Fetal, Neonatal Endocrinology and Metabolism | ESPE2022

Case Report of an Infant with Severe Symptomatic Hypoglycemia and A Rare ABCC8 Gene Mutation Inherited from his Unaffected Father and A Focal form of Hi

Tumasyan Dalar , Markosyan Renata

Introduction: Congenital hyperinsulinism (HI) is the leading cause of persistent hypoglycemia in infants and children. It is a rare glucose metabolism disorder characterized by unregulated secretion of insulin that leads to hyperinsulinemic hypoglycemia (HH). Most cases are caused by mutations in the KATP-channel genes ABCC8 and KCNJ11. KATP-HI can be classified into two distinct histological forms: a diffuse form, in which all of the pancreatic β-cells a...

hrp0084p3-905 | Fat | ESPE2015

Potential Connection of Dyslipidaemia with BMI and Associated Disorders in Obese Children and Adolescents

Navasardyan Lusine , Markosyan Renata

Background: It is used to define body weight status in children and adolescents using age- and gender-corrected for BMI-SDS. Also excess body weight (EBW) is increasingly applicable to children and adolescents (BMI 99-th percentile). BMI seems to be informative for the severity of obesity, but not for relevant risks of dyslipidaemia.Objective and hypotheses: To reveal the potential connections between absolute levels of lipids and BMI, as well as several...

hrp0095p2-224 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

Case Report of Familial X-Linked Hypopituitarism, without Confirmed Genetic Mutation

Dilanyan Lilit , Aghajanova Elena , Markosyan Renata

Introduction: Hypopituitarism is the partial or complete insufficiency of a single or multiple pituitary hormones. The clinical manifestation of hypopituitarism varies depending on the number and severity of hormone deficiencies. Familial cases are rare, compared to the sporadic ones. Its estimated incidence is between 1:4000-1:10000 live births.Case report: We report the clinical case of familial hypopituitarism in a fa...

hrp0082p3-d2-679 | Bone (1) | ESPE2014

Evaluation of Patients with Stunting in Armenia

Markosyan Renata , Volevodz Natalya , Perikhanyan Anush

Background: We analyzed characteristics of patients with stunting admitted at Endocrinology Department of Muratsan University Medical Settings, the only specialized center in Armenia. No similar study was carried out in this region.Objective and hypotheses: Patients (n=102) were evaluated prospectively.Method: The following parameters were used for statistical analysis- demographic information, diagnosis, anthropometric da...

hrp0097p1-442 | Diabetes and Insulin | ESPE2023

Identification of GCK-MODY in case of neonatal hyperglycemia

Hakobyan Nina , Avetisyan Susanna , Markosyan Renata

Neonatal Diabetes mellitus (NDM) is a rare genetic disease. In this report, we presented a case of NDM due to mutation in GCK gene. A male baby born to a non-consanguineous parent at 42 weeks of gestation with a birth weight of 3.2 kg. The mother was diagnosed with gestational diabetes; no special treatment was given. The first episode of hyperglycemia was registered at the age of 13 days at hospitalization due to bronchitis /blood glucose -6.2⁓7.9 mmol/l. Due to mild h...

hrp0092p3-289 | Late Breaking Abstracts | ESPE2019

Quality of Life of Patients with Type 1 Diabetes

Markosyan Renata , Aghajanova Elena , Navasardyan Lusine , Bayburdyan Gayane

The objective of the study was to evaluate the Pediatric Quality of Life (PedsQL) of children from 8-12 y/o with T1DM, to compare PedsQL perceived by their parents, to understand gender and other factors influence on PedsQL and disease management.We conducted a prospective non-randomized cross-sectional study. Children with T1DM were identified from pediatric endocrinology department registries. The onset of diabetes had to be more than 6 months. All con...