hrp0084p1-56 | DSD | ESPE2015

Immunohistochemical Detection of Estrogen α and Androgen Receptors in Genital Tissues in Girls with Congenital Adrenal Hyperplasia

Kopylova Irina , Orlova Elizaveta , Sysoeva Veronika , Glybina Tatyana , Kareva Mariia

Background: Introital stenosis in CAH girls could occur due to poor estrogenisation of vaginal tissue. It is unknown whether CAH genital skin is equally capable of responding to estrogens and androgens, depending on form and degree of external virilisation.Objective and hypotheses: To determine the levels of oestrogen α (ERa) and androgen receptors (AR) immunoreactivity in genital tissues of girls with CAH.Method: Surgical was...

hrp0097p1-118 | Growth and Syndromes | ESPE2023

The effect of growth hormone therapy on body composition in girls with Turner syndrome – a 10-year follow-up.

Błaszczyk Ewa , Shulhai Anna-Mariia , Gieburowska Joanna , Gawlik Aneta

Background: Obesity and a thicker layer of subcutaneous adipose tissue are more common in Turner syndrome (TS), however, it is assumed that growth hormone (GH) treatment has beneficial effect on their body composition (BC). Objective: To investigate the effect of GH therapy on BC and its relation with metabolic syndrome components in girls with TS during a 10 year-follow-up.Patients and Methods: 21 girls with TS were des...

hrp0097p1-505 | Growth and Syndromes | ESPE2023

Changes in carbohydrate and lipid metabolism during 10-year follow-up of patients with Turner syndrome treated with growth hormone.

Błaszczyk Ewa , Shulhai Anna-Mariia , Gieburowska Joanna , Gawlik Aneta

Background: Disorders in carbohydrate and lipid metabolism are more common in girls with Turner syndrome (TS) than in general population. Metabolic disorders have been identified as risk factors for the development of cardiovascular diseases. Additionally, TS patients are usually treated many years with growth hormone (GH) that affects the parameters of carbohydrate-lipid metabolism. Therefore cardiovascular risk factors should be monitored in TS girls.<p ...

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 ...

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 ...

hrp0097p1-475 | Fat, Metabolism and Obesity | ESPE2023

A girl with ROHHAD syndrome – a rare cause of rapid-onset obesity and hypothalamic dysfunction

Galcheva Sonya , Hachmeriyan Mari , Krumova Darina , Georgiev Radoslav , Dancheva Zhivka , Begemann Matthias , Eggermann Thomas , Iotova Violeta

Background: The rapid-onset obesity with hypoventilation, hypothalamic, autonomic dysregulation (ROHHAD) is a long-known rare condition with a high morbidity and mortality rate, and still unknown etiology.Objective: We aim to present the clinical findings and treatment in a patient with ROHHAD syndrome.Case presentation: A 4-year-old girl had normal development until March 2022 whe...

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...

hrp0098p3-351 | Late Breaking | ESPE2024

Physical and neuropsychiatric development of children with subclinical congenital hypothyroidism does not depend on treatment tactics

Kiiaev Alexey , Makretskaya Nina , Slovak Mariya , Udachina Anastasiya , Savelyev Leonid

Background: Subclinical congenital hypothyroidism is a condition that occurs when serum thyroid stimulating hormone (TSH) is elevated, with circulating thyroid hormone levels within their reference ranges, observed at neonatal screening. To date, the question of the need for treatment of this condition remains open. Also the effect on the physical and neuropsychiatric development of children remains unclear.Aims: To eval...

hrp0098p2-193 | Growth and Syndromes | ESPE2024

Impact of Growth hormone therapy in a Child with SOX3 mutation: A Case Study

Karpel Julia , Kedar Tal , Levy-Mendelovich Sarina , Kenet Gili , Pinhas-Hamiel Orit

Background: We present the case of a 7.5-year-old male of Sephardic Jewish descent, born to non-consanguineous parents, diagnosed with Hemophilia B and a SOX3 gene deletion. The child exhibited endocrine disorders and developmental delay.Case Presentation: Born full-term following an uncomplicated pregnancy, he was diagnosed with Hemophilia B shortly after birth due to a significant hemorrhage post-routine dextrose check...

hrp0084p3-811 | Endocrine Oncology | ESPE2015

Cushing’s Syndrome due to Ectopic ACTH Secretion by a Germline Tumour in the Cross-tail Area in a 7 Month Old Female Infant

Bossowski Artur , Kuzmicz Marta , Kitszel Anna , Polnik Dariusz , Savage Martin , Krawczuk-Rybak Maryna

Background: Ectopic ACTH syndrome is very rarely seen in infancy, usually occurring in older children.Case presentation: A female infant was born by Caesarean section (BW 4280 g) with congenital anal atresia and a large tumour surrounding the cross-tail region. CT imaging identified a heterogeneous pelvic mass (76×49×38 mm) below the sacrum. On day 1 of life, a sigmoid colostomy was established and at age 1 week, part of the tumour with the coc...