hrp0082p2-d3-614 | Turner Syndrome | ESPE2014

Aortic Dilation in a Large Cohort of Paediatric and Young Adult Patients with Turner Syndrome

Geniuk Nadia , Vaiani Elisa , Rizzi Ana , Guercio Gabriela , Warman Monica , Michelli Diego , Rivarola Marco , Belgorosky Alicia

Background: Aortic dilation (AD) occurs in Turner syndrome (TS) increasing the risk of aortic dissection at all ages. There are no current guidelines on what specific aortic diameter measurement should provoke concern in pediatric TS. Because of their small stature, an aortic size index (ASI) has been proposed to normalize the ascending aorta (AA) to body size in young adults’ with TS. However, a more reliable index has been also proposed: the ratio of vascular diameter t...

hrp0086p1-p370 | Gonads & DSD P1 | ESPE2016

45,X/46,XY Chromosomal Disorders of Sex Development: Experience from a Cohort of 50 Patients Followed in One Single Institution

Costanzo Mariana , Guercio Gabriela , Geniuk Nadia , Berensztein Esperanza , Manuel Lazzati Juan , Maceiras Mercedes , Zaidman Veronica , Aurelio Rivarola Marco , Belgorosky Alicia

Background: Disorders of sex development (DSD) are those congenital conditions in which development of chromosomal, gonadal, or anatomical sex is atypical. 45,X/46,XY mosaicism results in a large clinical spectrum of DSD including from female patients with Turner’s syndrome to normal appearing males.Objective and hypotheses: The main aim of this study is to review the clinical and gonad histological findings in a cohort of chromosomal DSD patients f...

hrp0086rfc9.2 | Pathophysiology of Disorders of Insulin Secretion | ESPE2016

Missense Mutation of GLIS3 Gene Resulting in Neonatal Diabetes and Congenital Hypothyroidism

Alghazir Nadia

Background: Neonatal diabetes, diabetes diagnosed before 6 months of age, is rare, with incidence of approximately 1:90,000–160,000 live births. In approximately half of cases, neonatal diabetes is transient and usually resolves between 6 and 18 months of life. In the remainder of cases, the diabetes is permanent. Mutations in the GLI-similar 3 (GLIS3) gene encoding the transcription factor GLIS3 are a rare cause of permanent neonatal diabetes and congen...

hrp0092p2-219 | Pituitary, Neuroendocrinology and Puberty | ESPE2019

Aromatase Inhibitor Treatment in Patient with Beta-Human Chorionic Gonadotrophin Secreting Tumor and Gonadotropin-Independent Precocious Puberty

Kiiaev Aleksei , Mazerkina Nadia , Astashova Ekaterina

Introduction: CNS tumors may cause precocious puberty (PP): in most cases gonadotropin-dependent PP, but in boys ß-HCG- secreting tumors may cause gonadotropin-independent (GIPP) with extremely high testosterone secretion due to Leidig cell stimulation by ß-HCG. Rapid bone maturation in such cases can lead to growth plate closure and poor final height prognosis. Aromatase inhibitor (AI) are administered in children with McCune-Olbright disease, famil...

hrp0089p2-p214 | GH & IGFs P2 | ESPE2018

Incidence of Cranial MRI Abnormalities in Patients with Isolated Growth Hormone Deficiency: 20 Years of Results

Amin Nadia , Biliaieva Kateryna , Mushtaq Talat

Background: Patients with isolated growth hormone deficiency (GHD) will routinely have an MRI scan of the pituitary and brain to assess pituitary size and presence of any intracranial lesions. The result may change the threshold for monitoring for further hormone deficiencies. However the test may also detect unexpected or unrelated abnormalitiesAim: To review the incidence of normal and abnormal MRI scans in children with a diagnosis of isolated GHD.</p...

hrp0089p1-p259 | Thyroid P1 | ESPE2018

A Novel Mutation of IGSF1 Gene

Sotiridou Ellada , Schoenmakers Nadia , Datta Vipan

Introduction: Mutations in IGSF1 result in X-linked congenital central hypothyroidism, macroorchidism and a variable spectrum of anterior pituitary dysfunction, most commonly including hypoprolactinaemia. We identified a novel hemizygous IGSF1 mutation (c.3191T>C, p.L1064P) in a 17 year-old adolescent, inherited from his heterozygous mother.Case: A novel hemizygous IGSF1 mutation (c.3191T>C, p.L1064P) was identified by direct se...

hrp0084p3-814 | Endocrine Oncology | ESPE2015

Results of GH Treatment in Childhood Brain Tumours Survivors

Mazerkina Nadia , Gorelyshev Sergey , Geludkova Olga

Background: GH deficiency is the most common endocrine disorder in childhood brain tumours survivors.Objective and hypotheses: To examine results and safety of GH treatment in patients with childhood brain tumours.Method: 118 patients (72 craniopharyngioma, 29 medulloblastoma, 17 germ cell tumours) received hGH in the dose 0.03–0.034 mg/kg per day for 2.3±0.8 years. The mean chronological age at the start of the treatment...

hrp0089p3-p055 | Bone, Growth Plate &amp; Mineral Metabolism P3 | ESPE2018

The British OsteoNEcrosis Study: A Multi-centre Prospective Study

Amin Nadia , James Beki , Feltbower Richard , Mushtaq Talat , Kinsey Sally

Introduction: Osteonecrosis can be a debilitating consequence of treatment for acute lymphoblastic leukaemia (ALL), most commonly affecting patients aged between 10 and 20 years at diagnosis of malignancy. Patients may have asymptomatic lesions that spontaneously regress, and little is known about the natural history of lesions. There is also limited understanding of the relationship between osteonecrosis and other markers of bone health.Aims: The aims o...