hrp0086p2-p182 | Bone & Mineral Metabolism P2 | ESPE2016

Primary Hyperparathyroidism- A Cause of Metabolic Syndrome in Children?

Ioana Arhire Amalia , Pavel Madalina , Florea Suzana , Miron Adrian , Gabriela Barbu Carmen

Introduction: We report a case of a 15 year old male with metabolic syndrome due to primary hyperparathyroidism.Case report: A 15 year old male was admitted in our department for the evaluation and management of obesity. His medical history revealed a progressive weight gain in the last 3 years in an emotional familial context. Clinical features: Obesity: Z-score of +2.32 DS, a height of 1.80 m and a weight of 108 kg, with a BMI of 33.3...

hrp0095p1-81 | Fat, Metabolism and Obesity | ESPE2022

The relationship between body mass index, adipose indices measured by whole-body DXA and markers of cardio-metabolic risk in survivors of childhood medulloblastoma

Cima Luminita-Nicoleta , Iliescu Marina , Soare Iulia , Nedelea Lavinia , Oprescu Raluca , Tarna Mihaela , Comsa Codruta , Dragomir Monica , Gabriela Barbu Carmen , Fica Simona

Background: Endocrine disturbances are the most prevalent complications in childhood cancer survivors (CSS), especially in those treated with cranial and cervical radiation for brain tumours, such as medulloblastoma. Recent data have shown frequent delays in the diagnosis and treatment of these complications that may lead to potential side-effects on general health. Apart from the well-known hypothalamic–pituitary and growth disorders observed in CSS, th...

hrp0097p2-43 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2023

Persistent Müllerian duct syndrome and the identification of a yet unreported homozygous mutation in AMHR2 gene

Cima Luminita-Nicoleta , Oprescu Raluca , Zubaci Ana , Tarna Mihaela , Iliescu Marina , Dumitrache Sabina , Grosu Iustina , Draghici Isabela , Chirita-Emandi Adela , Puiu Maria , Gabriela Barbu Carmen , Viorica Popescu Mihaela , Fica Simona

Introduction: Persistent Müllerian duct syndrome (PMDS) is a rare disorder of sex development (DSD) characterized by the persistence of Müllerian derivatives, the uterus and/or fallopian tubes, in otherwise normally virilized boys. PMDS is caused by mutations in the genes coding anti-Müllerian hormone (AMH, PMDS type 1) or the AMH receptor (AMHR2 gene, PMDS type 2) and it usually presents as undescended testes (cryptorchidism) or inguinal hernia...