hrp0095p1-581 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2022

A case series of granulosa cell tumors of the ovary

Giuca Diandra , Dumitru Niculina , Scurtu Cristian , Vladoiu Suzana , Dumitrica Alina , Boboc Madalina , Procopiuc Camelia , Gherlan Iuliana

Introduction: Granulosa cell tumors (GSTs) of ovary are very rare, usually large gonadic neoplasms arising from the mesenchyme and sex cords. The main clinical appearance of the juvenile GCTs is represented of signs of excessive estrogen (Precocious puberty - 75% of cases) or testosterone secretion (rare).Aim: To present the different clinical presentation and outcome in a case series of a rare tumor patients.<p clas...

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...