hrp0089p2-p241 | Growth & Syndromes P2 | ESPE2018

Turner Syndrome and Autoimmune Thyroid Disease: Pecularities of Evolution in 93 Turner Syndrome Patients

Dumitrescu Cristina , Gherlan Iuliana , Radomir Lidia , Vintila Madalina , Brehar Andreea , Caragheorgheopol Andra , Purice Mariana , Procopiuc Camelia

Turner Syndrome (TS) is a relatively common chromosomopathy and according to epidemiological studies the prevalence of Autoimmune thyroiditis (AIT) in TS fluctuates from 10% to 21% versus 1.3% in the general population.Objective: – to retrospectively evaluate thyroid autoimmune disorders and thyroid function in a group of 93 TS patients.– to compare the prevalence of AIT and thyroid dysfunction in subgroups of TS accordin...

hrp0089p2-p359 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology P2 | ESPE2018

Clinical, Hormonal and Metabolic Profile in Adolescent Girls Treated with Gonadotropin Releasing Hormone Agonist for Idiopathic Central Precocious Puberty

Procopiuc Camelia , Dumitrescu Cristina , Vintila Madalina , Caragheorgheopol Andra , Brehar Andreea , Radomir Lidia , Gherlan Iuliana

Background: Gonadotropin-releasing hormone analog (GnRHa) is the gold standard treatment for central precocious puberty (CPP). In recent years, increased prevalence of polycystic ovary syndrome (PCOS) has been reported in girls treated with GnRHa for CPP. Attributes of PCOS overlap normal pubertal changes, making the diagnosis of PCOS during adolescence controversial.Aim: To assess the metabolic profile, the prevalence of PCOS and describe its phenotypes...

hrp0097p2-16 | Growth and Syndromes | ESPE2023

Clinical heterogeneity of Kabuki Syndrome in a cohort of pediatric Romanian patients

Manole Tiberiu , Radomir Lidia , Boboc Madalina , Procopiuc Camelia , Braha Elena , Gherlan Iuliana

Introduction: Kabuki Syndrome (KS) is a rare genetic disorder characterised by dysmorphic facies, poor developmental growth, hypotonia, skeletal abnormalities, intellectual disability, as well as systemic malformations. The pathogenic or likely pathogenic variants of the KMT2D or KDM6A genes are responsible for about 70% of the cases, while the rest are diagnosed based on clinical features consistent with KS. This paper reviews the clinical features, genetic t...

hrp0097p2-107 | GH and IGFs | ESPE2023

Metabolic parameters in a series of patients with Prader-Willi syndrome treated with recombinant growth hormone

Manole Diandra , Radomir Lidia , Boboc Madalina , Brehar Andreea , Procopiuc Camelia , Iordachescu Carmen , Padure Adriana , Vladoiu Suzana , Gherlan Iuliana

Introduction: Prader-Willi syndrome (PWS) is a rare paternally inherited genetic disorder caused by alteration of chromosome 15q11-q13. Associated hypothalamic impairment leads to hyperphagia which therefore increases the risk for morbid obesity, dyslipidaemia, insulin resistance and arterial hypertension and in the end increases mortality. Patients with PWS benefit of recombinant growth hormone (rGH) treatment despite the GH reservoir to improve their impaire...