hrp0092p3-108 | Fat, Metabolism and Obesity | ESPE2019

Vitamin B12 Levels in Children After Metformin Treatment

Yordanova Desislava , Todorova Zdravka , Dimitrova-Mladenova Mihaela , Stefanova Elisaveta

Background and Aims: Vitamin B12 is an essential micronutrient required for optimal hemopoetic, cardiovascular and neuro-cognitive functions. There are some literature data that Metformin induces vitamin B12 malabsorption, which may increase the risk of developing vitamin B12 deficiency and subsequently elevation of homocysteine levels. High concentrations of homocysteine has been associated with higher risk of coronary artery disease, arterial hypertension, h...

hrp0086p2-p543 | Fat Metabolism and Obesity P2 | ESPE2016

25-Hydroxyvitamin D Concentrations in Pubertal Children with Obesity

Yordanova Desislava , Stefanova Elisaveta , Kazakova Krasimira , Todorova Zdravka , Dimitrova Mihaela

Background: The prevalence of childhood obesity has been rapidly increasing worldwide and the last report of World Health Organisation define it as epidemic and one of the most serious global public health challenges for the 21st century. Obese children and adolescents are at an increased risk of developing various health problems including type 2 diabetes mellitus, hypertension, osteoarthritis, cardiovascular disease. Obesity is a risk factor for vitamin D deficiency. Vitamin...

hrp0082p3-d2-645 | Adrenals & HP Axis (1) | ESPE2014

Untreated Congenital Hyperplasia with Central Precocious Puberty

Dimitrova Mihaela , Stefanova Elisaveta , Kazakova Krasimira , Yordanova Desislava , Todorova Zdravka

Background: Congenital adrenal hyperplasia (CAH) may cause early maturation of hypothalamic–pituitary–gonadal axis when the initiation of corticosteroid treatment is late or/and there is poor compliance. The latter sometimes leads to a lack of treatment. In most cases, if the child survives, he or she develops central precocious puberty.Case report: We present a 12-year-old boy born of a normal pregnancy and delivery. In the first months of lif...

hrp0082p3-d3-648 | Autoimmune Endocrine Disease | ESPE2014

Genetically Proven APS Type 1 in Two Siblings

Yordanova Desislava , Stefanova Elisaveta , Kazakova Krasimira , Todorova Zdravka , Dimitrova Mihaela

Background: APS type 1 is characterized by an autosomal recessive inheritance. The clinical diagnosis is based on the presence of at least two of the three following diagnostic criteria: chronic mucocutaneous candidiasis, chronic hypoparathyroidism, and autoimmune adrenal insufficiency. Patients often develop other autoimmune diseases. APS type 1 is caused by mutations in the AIRE gene which encodes the AIRE protein. The protein probably acts as a transcription factor.<p c...

hrp0092p3-256 | Thyroid | ESPE2019

Pseudoprecocious Puberty in a Girl with Untreated Acquired Hypothyroidism

Dimitrova-Mladenova Mihaela , Yordanova Desislava , Todorova Zdravka , Dasheva Anna , Stefanova Elisaveta

Background: Hypothyroidism is associated with impared growth and pubertal delay. However, there are female patients with untreated acquired hypothyroidism and paradoxical precocious pubertal signs, which include thelarche, galactorrhoea and menarche. These girls do not have axillary and pubic hair development. The exact mechanism for this pseudoprecocious puberty is not clear. The most probable explanation is that high levels of TSH act through the FSH recepto...

hrp0089p3-p053 | Bone, Growth Plate &amp; Mineral Metabolism P3 | ESPE2018

HDR Syndrome: A Case Report of Hypoparathyroidism, Hearing Loss and Renal Agenesis

Dimitrova-Mladenova Mihaela , Todorova Zdravka , Stefanova Elisaveta , Kostova Antoaneta , Yordanova Desislava , Miteva Polina , Rusinov Dimitar

Background: Hypoparathyroidism, sensorineural deafness, and renal disease (HDR syndrome, Barakat syndrome) is a rare condition, caused by a mutation on chromosome 10p which affects the GATA3 gene. GATA3 encodes a transcription factor important for the embryonic development of the parathyroid gland, the auditory stem, and the kidneys. Its expression has also been found in the thymus and the central nervous system. A wide range of renal involvement has been rep...

hrp0089p3-p132 | Fat, Metabolism and Obesity P3 | ESPE2018

Correlation Between Obesity, BMI and Insulin Resistance in Bulgarian Children

Yordanova Desislava , Stefanova Elisaveta , Kazakova Krasimira , Todorova Zdravka , Dimitrova Mihaela , Baycheva Mila

Background and aims: The spread of obesity among children and adolescents is increasing significantly in the last decades. The World Health Organisation defined the disease as a global epidemic and the need of complex interventions worldwide is well recognised. Obesity is major risk factor for many chronic diseases, including diabetes, cardiovascular and lung diseases, orthopaedic and skin problems, and cancer. There are strong predictors that 50% of pre-pubertal and 50–7...

hrp0086p1-p752 | Pituitary and Neuroendocrinology P1 | ESPE2016

A Novel MKRN3 Frameshift Mutation in a Bulgarian Girl with Central Precocious Puberty

Dimitrova Mihaela , Stefanova Elisaveta , Glushkova Maria , Todorova Albena , Todorov Tihomir , Konstantiva Maia , Kazakova Krasimira , Tincheva Radka

Background: Precocious puberty is defined as the onset of pubertal signs in girls younger than 8 years of age and in boys younger than 9 years of age. Central precocious puberty is due to an early activation of the hypothalamic-pituitary-gonadal axis. Different candidate genes were involved in the etiology of the disease. To date, mutations in the maternally imprinted gene MKRN3 are most frequently found in families with CPP.Objective and hypotheses: The...

hrp0094p2-312 | Growth and syndromes (to include Turner syndrome) | ESPE2021

Results from the Implementation of a Growth Disorders Related Twinning Programme (Partners4Growth) at tertiary pediatric endocrinology clinics

Elkina Stanimira , Rankova Kameliya , Avdjieva-Tzavella Daniela , Halvadzhiyan Irina , Stefanova Elisaveta , Kaleva Nartzis , Petrova Chayka , Popova Galina , Iotova Violeta ,

It is well known that early diagnosis of growth disorders in children and their timely treatment are important for better outcomes.Objective: To evaluate the results from the implementation of the Partners4Growth Twinning Programme at Bulgarian tertiary pediatric endocrinology clinics. Materials and Methods: Since 2019 Partners4Growth started operation at 6 centers – 3 experienced in growth disorders reference centers and 3 twin cen...