hrp0095p2-206 | Multisystem Endocrine Disorders | ESPE2022

Rare association of hyperinsulinemic hypoglycemia in a pediatric patient with oculofaciocardiodental syndrome and mother with neuroendocrine pancreatic tumor

Tarna Mihaela , Oprescu Raluca , Iliescu Marina , Cima Luminita , Fica Simona

Background: Hyperinsulinemic hypoglycemia is a heterogeneous condition characterized by inappropriate insulin secretion in the presence of low blood glucose levels. It can have various causes, including genetic, metabolic, syndromic, autoimmune, insulinoma, non-insulinoma pancreatogenous hypoglycemia or non-islet cell tumor hypoglycemia. On the other hand, oculofaciocardiodental syndrome is a rare X-linked dominant condition characterized by multiple congenita...

hrp0095p2-256 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2022

Case report: Roumanian baby with cytochrome P450 oxidoreductase deficiency

Simona Fica , Luminita Cima , Ana Zubaci , Raluca Oprescu

Background: POR deficiency is a rare form of congenital adrenal hyperplasia, transmitted in an autosomal recessive trait, that is characterized by ambiguous genitalia, impaired steroidogenesis and skeletal malformations similar to those of Antley-Bixler syndrome. It is caused by mutations in the P450 oxidoreductase gene (POR), an electron donor for all microsomal P450 enzymes including the three steroidogenic enzymes P450c 17 (17 alfa-hidroxylase /17,20 lyase)...

hrp0095p1-364 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

Pneumonia as the first manifestation of pediatric pulmonary carcinoid tumor

Oprescu Raluca , Cima Luminita , Zubaci Ana , Tarna Mihaela , Iliescu Marina , Fica Simona

Pulmonary carcinoid tumors represent well-differentiated pulmonary neuroendocrine tumors, which include typical and atypical carcinoids. This type of lung tumors is rare, but represents the most common primary malignant lung tumor in children and adolescents, especially the typical carcinoids. They can be asymptomatic at the time of diagnosis or can present with nonspecific findings like recurrent pneumonia, cough, and hemoptysis. We report the case of a 15-year-old girl reffe...

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...

hrp0095p2-247 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

“In her bigger sister's footsteps”. A case of precoccious puberty in 2 caucasian sisters

Iliescu Marina , Nicoleta Cima Luminita , Andrei Marian , Tarna Mihaela , Stancu Ana-Maria , Oprescu Raluca , Sarbu Rodica , Smadeanu Roxana-Elena , Fica Simona

We present the cases of a 3 yo girl diagnosed with precoccious puberty, with a personal history of premature telarchy, genital hair development and vaginal blood discharge at 1yo 2mo, currently in treatment with GnRH agonist, and the case of her younger sister, aged 1 yo, who also presented with premature telarchy. They have 2 older siblings, both of them are clinically healthy boys. Their mother and paternal aunt had normal pubertal development. No other history from females ...

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...