hrp0097p1-205 | Adrenals and HPA Axis | ESPE2023

Effects of hyperandrogenism on psychological perception and quality of life in patients with non-classical congenital adrenal hyperplasia

Karamfilova Teodora , Galcheva Sonya , Bocheva Yana , Iotova Violeta

Background: Non-classical congenital adrenal hyperplasia (NCCAH) is a hyperandrogenic disorder affecting negatively the psychological health and the quality of life (QoL) of patients.Aim: To evaluate the psychological health and QoL in female NCCAH patients in comparison to female age-matched healthy controls.Participants and Methods: A total of sixty-eight females, aged 10-27 year...

hrp0098p3-158 | Growth and Syndromes | ESPE2024

A patient with of 45,X/47,XXX mosaic Turner syndrome and unusual presentation

Karamfilova Teodora , Iotova Violeta , Mladenov Vilhelm , Galcheva Sonya

Background: Turner syndrome (TS) is a common chromosomal disorder affecting approximately 1:2500 live female births caused by partial or complete absence of one X chromosome. Its most common clinical features are short stature and gonadal insufficiency. Only about a third of girls with Turner syndrome may have spontaneous puberty.Objective: The aimof this case presentation is to describe the clinical manifestations in th...

hrp0095p1-217 | Adrenals and HPA Axis | ESPE2022

Precocious Pubarche in Girls - A Clinical Sign for Underlying Hyperandrogenic Disease

Galcheva Sonya , Karamfilova Teodora , Yordanova Nikolinka , Bocheva Yana , Mladenov Vilhelm , Iotova Violeta

Background: Precocious pubarche (PP), defined as the development of pubic hair before 8 years of age in females could be the first sign of a hyperandrogenic condition.Aim: The purpose of the study was to analyze the etiology of premature androgenization of girls with a history for PP and to evaluate their clinical, laboratory and ovarian ultrasound profile.Material and methods: A t...

hrp0095p1-409 | Adrenals and HPA Axis | ESPE2022

Clinical, laboratory and body composition profile of young female patients with non-classic congenital adrenal hyperplasia

Karamfilova Teodora , Galcheva Sonya , Bocheva Yana , Ivanova Darina , Bazdarska Yuliya , Iotova Violeta

Background: Non-classic congenital adrenal hyperplasia (NCCAH) is a genetic disorder characterized by hyperandrogenism associated with potential metabolic alterations and changes in body composition and bone mineral parameters.Aim: The purpose of this pilot study was to evaluate the clinical and biochemical characteristics in association with bone mineral parameters and body composition in female patients diagnosed with ...

hrp0089p3-p015 | Adrenals and HPA Axis P3 | ESPE2018

A Homozygous Mutation c.518T>A (p.lle173Asn) of the CYP21A2 Gene Presenting as Non-Classical Congenital Adrenal Hyperplasia (NCAH)

Karamfilova Teodora , Stoeva Iva , Mihova Kalina , Kaneva Rada , Tsochev Kaloyan , Iotova Violeta

Congenital adrenal hyperplasia due to P450c21 (21-hydroxylase) deficiency is an autosomal recessive disorder presenting as three phenotypes dependent on the residual enzyme activity: two classical ones (salt wasting and simple virilizing, SV) and the milder NCAH. All forms have increased adrenal androgens. Around 0.1% of Caucasians and up to several percent of certain ethnic groups are affected by NCAH. Most NCAH patients remain undiagnosed. Symptoms of NCAH may develop at any...

hrp0089p2-p249 | Growth & Syndromes P2 | ESPE2018

GrowInform – A Campaign for Early Diagnosis and Treatment of Growth Disorders

Stoycheva Rosica , Iotova Violeta , Galcheva Sonya , Yordanova Galina , Tsochev Kaloyan , Ivanova Antoaneta , Karamfilova Teodora

In 2014 Varna Pediatric Endocrine Society started a program for timely diagnosis and treatment of stature deviations. GPs with 23 058 children under their care were trained and provided with a specialized auxological software to warn them for every stature deviation. From the expected 692 children with short stature (3% of the total), only 33 (0.14%) were sent for further evaluation. Due to the unsatisfactory results we decided to organise a new campaign with the help of media...

hrp0094p2-15 | Adrenals and HPA Axis | ESPE2021

Clinical and metabolic characteristics of hyperandrogenic girls with non-classic congenital adrenal hyperplasia and polycystic ovary syndrome

Karamfilova Teodora , Galcheva Sonya , Mladenov Vilhelm , Boyadzhiev Veselin , Bazdarska Yuliya , Yordanova Nikolinka , Iotova Violeta ,

Background: Non-classic congenital adrenal hyperplasia (NCCAH) and polycystic ovary syndrome (PCOS) present with similar hyperandrogenic symptoms in adolescent girls and may be associated with the development of cardiometabolic disorders.Aim: The purpose of the study was to evaluate the prevalence and the association between the clinical and biochemical parameters of hyperandrogenism and metabolic disorders in girls with...

hrp0097p1-579 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2023

Comparison between clinical, metabolic and hormonal parameters in adolescent girls with hyperandrogenism and healthy controls

Mladenov Vilhelm , Galcheva Sonya , Karamfilova Teodora , Bocheva Yana , Ivanova Darina , Iotova Violeta

Background: Polycystic ovary syndrome (PCOS) and non-classical congenital adrenal hyperplasia (NCCAH) are the most common hyperandrogenic disorders in adolescent girls. Though their etiology and pathogenesis differ, there is a significant overlap between physiological, clinical and hormonal findings and physiological phenomena. Adult patients with PCOS have increased prevalence of obesity, metabolic disturbances, increased cardiovascular risk, risk of impaired...

hrp0092t13 | Top 20 Poster | ESPE2019

Results from the Implementation of a 2 Year Growth Awareness and Growth Disorders Screening Campaign (GrowInform)

Tsochev Kaloyan , Stoycheva Rosica , Iotova Violeta , Karamfilova Teodora , Markovska Velina , Halvadjian Irina , Galcheva Sonya , Mladenov Vilhelm , Boyadzhiev Veselin , Ivanova Antoaneta

Aim: Evaluation of the results from the campaign GrowInform (2017-2019), a project with the main aim to raise awareness of growth disorders, and secondary aims to facilitate screening for growth deviations in children from areas with no easy access to pediatric endocrinologists, thus achieving earlier diagnosis and treatment.Methods: For 2 years (April 2017 to March 2018), GrowInform acted in 13 cities and towns from Eas...