hrp0086p2-p767 | Pituitary and Neuroendocrinology P2 | ESPE2016

Congenital Hypopituitarism in a Patient with 18p- Syndrome

Bolmasova Anna , Melikian Maria , Degtyareva Anna

Background: 18p- syndrome is very rare (1:50000 live-born infants). Hypopituitarism as part of the syndrome is found in 13% of cases. Here we present a case of congenital hypopituitarism in a girl with 18p- syndrome.Objective and hypotheses: Description of a rare clinical case of congenital hypopituitarism as a feature of 18p- syndrome.Method: Hormonal and biochemical blood tests, MRI, karyotyping, echocardiogram, specialists’...

hrp0084p3-977 | GH & IGF | ESPE2015

Congenital Hypopituitarism and Severe Developmental Delay Associated with Homozygous POU1F1 Mutation

Melikian Maria , Tiulpakov Anatoly , Gavrilova Anna

Background: Mutations in POU1F1 is a rare cause of combined pituitary hormone deficiency, which commonly includes GH, TSH and prolactin deficiencies and characterised by hypoplastic anterior pituitary.Objective and hypotheses: To present a case of severe short stature and developmental delay 1.5 years old girl, who was admitted to our hospital because of short stature.Method: Hypopituitarism panel’ genes were sequence...

hrp0089p3-p172 | Fetal, Neonatal Endocrinology and Metabolism P3 | ESPE2018

Forty patients with persistent, non-focal congenital hyperinsulinism: Urgent need for new treatment modalities

Rasmussen Amalie Greve , Melikian Maria , Globa Evgenia , Detlefsen Sonke , Rasmussen Lars , Petersen Henrik , Brusgaard Klaus , Rasmussen Annett Helleskov , Christesen Henrik

Background: Congenital hyperinsulinism (CHI) is a rare, heterogeneous disease with a focal, diffuse, or atypical histological form and a high risk of cerebral injury due to severe hypoglycemia.Methods: We retrospectively evaluated the treatment and outcome of a cohort of patients with non-focal, persistent CHI admitted to the International Hyperinsulinism Center, Denmark from January 2000 to May 2017. Data were extracted from hospital files.<p class=...

hrp0086p1-p558 | Perinatal Endocrinology P1 | ESPE2016

Cerebral Outcome of Children with Congenital Hyperinsulism

Rasmussen Annett Helleskov , Melikian Maria , Portner Fani , Larsen Anna-marie , Scherderkina Inna , Globa E , Filipsen Karen , Brusgaard Klaus , Christesen Henrik

Background: Congenital hyperinsulinism (CHI) is a rare condition characterized by unregulated secretion of insulin from pancreatic islet β cells. The primary treatment goal is to obtain normoglycemia, since hypoglycemia in the neonatal period can have severe impact on cerebral development.Objective and hypotheses: To assess the cerebral function in children with CHI at follow up.Method: From an international cohort, 40 childre...