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...

hrp0097p1-522 | Growth and Syndromes | ESPE2023

ACAN gene mutation in a patient born small for gestational age with familial short stature

Iotova Violeta , Deyanova Yana , Stoyanova Milena , Hachmeriyan Mari

Introduction: Aggrecan, encoded by the ACAN gene, is an important component in the cartilage extracellular matrix. Mutations in the ACAN gene have been associated with idiopathic and familial short stature in the recent years. Bone age (BA) is often advanced, although it can be delayed or normal. Patients can have dysmorphic features like broad forehead, midfacial hypoplasia, prognathism, posteriorly rotated ears, broad and short thumbs. Bone and joint problem...

hrp0097p2-183 | Diabetes and Insulin | ESPE2023

New onset diabetes – frequency of DKA and positive islet autoantibodies at Varna’s diabetes center

Bazdarska Yuliya , Stefanov Hari , Bocheva Yana , Iotova Violeta

Background and Aims: Initial presentation of type 1 diabetes (T1D) is associated with different level of diabetic ketoacidosis (DKA). Four pancreatic islet cell autoantibodies (Abs) mostly associate with T1D - glutamic acid decarboxylase antibodies (anti-GAD65), tyrosine phosphatase antibodies (IA 2-Ab), insulin autoantibody (anti-IAA) and zinc transporter 8 antibodyAim: To evaluate the prevalence of DKA, the frequency o...

hrp0097p2-13 | Growth and Syndromes | ESPE2023

Transition of patients treated with growth hormone – case series

Shishkov Savi , Yaneva Zhaneta , Yordanova Nikolinka , Iotova Violeta

Introduction: Rare endocrine diseases are lifelong chronic conditions requiring constant medical follow up of the affected individuals. More common among them are patients with hypopituitarism, Turner syndrome (TS), and Prader-Willi syndrome (PWS). The age between adolescence and adulthood, despite being difficult to define by age category alone is an important time for the personal development. This time may be made more difficult if accompanied by a chronic ...

hrp0097p2-231 | Growth and Syndromes | ESPE2023

Growth hormone treatment of short SGA children – experience of tertiary clinic in Bulgaria

Krumova Darina , Zlateva Tanya , Georgieva Ralitsa , Deyanova Yana , Iotova Violeta

Introduction: Fenton (2013) defined small for gestational age children (SGA) as born with birth length and/or weight < 10th percentile for the corresponding gestational age, and clinicians use it ever since. According to the literature, 1 of 10 children born SGA does not catch-up in growth. Wit (2021) suggested to address them as short SGA children. Recombinant human growth hormone (rhGH) treatment in those children have been approved by the FDA in 2001 and...

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 ...

hrp0095lb17 | Late Breaking | ESPE2022

Mapping of the current transition of care practice for patients with pituitary disease at Endo-ERN reference centers

Shishkov Savi , Tuccillo Luigi , Iotova Violeta , Pivonello Rosario , Pelsma Iris , Pereira Alberto , Biermasz Nienke

Rare endocrine conditions present specific diagnostic and management challenges to healthcare providers, especially regarding transition. Despite the need for practical guidance on this subject, consensus on structured approaches to transition are lacking. The aim was to map the current clinical practice, and identify the unmet needs regarding transition of care for patients with pituitary disease in the reference centers (RCs) of the European Reference Network on Rare Endocri...

hrp0095p2-131 | Fetal, Neonatal Endocrinology and Metabolism | ESPE2022

Small for Gestational Age (SGA) Babies Identified Through in the Pilot Programme for Early Detection and Follow-Up of SGA Children

Zlateva Tanya , Tsochev Kaloyan , Krumova Darina , Pramatarova-Kamburova Tanya , Krasteva-Vilmosh Maya , Georgieva Ralitsa , Iotova Violeta

Introduction: Children born small for gestational age (SGA) are extensively studied since the 60s of the last century. Short-term and long term sequels of the condition lead to the concept of necessary follow up throughout childhood and early adulthood. Based on the current knowledge, SGA births are between 5% and 7% of all, with about 10% failing to catch-up up to 2 years of age. The timely capture of such individuals within general practices and even within ...

hrp0095p2-160 | Growth and Syndromes | ESPE2022

Evaluation of the first year of growth hormone treatment in Prader-Willi Syndrome Patients followed at an Expert Center of Rare Endocrine Diseases

Yordanova Nikolinka , Bazdarska Yuliya , Shishkov Savi , Halvadzhiyan Irina , Galcheva Sonya , Iotova Violeta

Introduction: Prader-Willi syndrome (PWS) is a rare imprinting disorder with evidence of increasing incidence. Treatment with recombinant human growth hormone (rhGH) has been shown to improve growth, body composition and final height. It is officially approved by the US Food and Drug Administration since 2000, but still not official indication in many countries.Aim: The aim of the current study is to assess the results o...