hrp0082p3-d2-832 | Growth (1) | ESPE2014

The Impact of GH Replacement Therapy in Children Born Small-for-Gestational-Age: growth Response and Safety Profile

Chifu Irina Oana , Bodescu Ioana , Vasiliu Ioana , Idriceanu Jeanina , Fadur Alina , Hreniuc Ana , Ungureanu Maria Christina , Leustean Letitia , Mogos Voichita , Vulpoi Carmen

Background: Children born small-for-gestational-age (SGA) have a birth weight below 2,500 g at a gestational age over 37 weeks or a birth weight or length below the 3-rd percentile for gestational age. They usually recover growth during the first 6–12 months of life, but if not so, it is unlikely the recovery to happen after the age of two unless GH replacement therapy is initiated.Objective: The aim of this study was to evaluate the 1-st year growt...

hrp0095p1-337 | Multisystem Endocrine Disorders | ESPE2022

Alopecia totalis at the onset of polyglandular syndrome type 1

Vasiliu Ioana , Trandafir Laura-Mihaela , Preda Cristina , Frasinariu Otilia-Elena , Streanga Violeta , Vasilache Anastasia , Chelaru Nicoleta

Background: The decreased immune tolerance caused by mutations of the autoimmune regulatory gene (AIRE) lead to a spectrum of variable organ specific autoimmune disorders known as autoimmune polyglandular syndrome type 1 (APS-1). The rarity of the syndrome and the heterogenous clinical manifestations at the onset of the disease may delay the diagnosis. Only when two major components of the triad chronic mucocutaneous candidiasis – hypoparathyroidism &nda...

hrp0097p2-221 | Adrenals and HPA Axis | ESPE2023

Diabetes insipidus as first manifestation of congenital malformation of the neurocranium

Vasiliu Ioana , Frasinariu Otilia , Mocanu Adriana , Daniel Iancu Ionut , Mihaela Trandafir Laura

Central diabetes insipidus (CDI) at neonatal age may occur in the setting of intracranial abnormalities that affect the hypothalamus-pituitary system. These conditions are characterized by defective production, transport or secretion of antidiuretic hormone (ADH). This results in inappropriately low ADH levels in the setting of increased plasma osmolality. We present the case of an infant born by C-section at 38 weeks of gestation, with bilateral cheilognatopalatoschisis, naso...

hrp0097p2-211 | Diabetes and Insulin | ESPE2023

A rare association between congenital hyperinsulinism and congenital isolated ACTH deficiency

Vasiliu Ioana , Bizim Delia , Frasinariu Otilia , Daniel Iancu Ionut , Mihaela Trandafir Laura

Hyperinsulinemic hypoglycemia (HH) is common in newborns. If hypoglycemia occurs after the first 48 hours following birth, it may be a sign of an underlying condition. We present the case of a baby girl born at 38 weeks of pregnancy, with good adaptation to extrauterine life and blood glucose of 60 mg/dl in the first days of birth. Approximately 2 days after discharge, she was addressed at the emergency unit because of food refusal for approximately 30 hours, with a blood suga...

hrp0086p2-p879 | Syndromes: Mechanisms and Management P2 | ESPE2016

SHORT Syndrome and rhGH Treatment – Is It Useful?

Armasu Ioana , Crumpei Iulia , Vasiliu Ioana , Rusu Cristina , Braha Elena , Zetu Irina , Raileanu Daniela , Preda Cristina , Vulpoi Carmen

Background: SHORT syndrome is an autosomal dominant genetic multisystem disorder determined by PIK3R1 gene mutations, which normally plays a role in cell signalling. SHORT is an acronym for short stature, hyperextensibility of joints and/or hernia, ocular depression, Rieger anomaly and teething delay. It is a rare condition; its prevalence is unknown with only few affected individuals and families reported worldwide.Case report: We report a case of 4 yea...

hrp0084p3-682 | Bone | ESPE2015

Metadiaphyseal Dysplasia Associated with Confirmed GH Deficiency: Family Report

Armasu Ioana , Braha Elena , Crumpei Iulia , Vasiliu Ioana , Manolachie Adina , Puiu Mirela , Zetu Irina , Mogos Voichita , Vulpoi Carmen

Background: Skeletal dysplasias are a heterogeneous group of more than 200 disorders characterised by abnormalities of cartilage and bone growth, resulting in abnormal shape and size of the skeleton.Case presentation: We present two children (brother 7 years and sister 11 years), investigated for growth retardation, part of five children brotherhood from apparently healthy non-consanguineous couple (mother’s height=158 cm and father’s height=16...

hrp0082p2-d2-428 | Growth Hormone (1) | ESPE2014

The Interconnectivity Between GH Replacement Therapy and Subclinical Hypothyroidism on Growth Response in Children with Pituitary Dwarfism

Bodescu Ioana , Idriceanu Jeanina , Vasiliu Ioana , Manolachie Adina , Chifu Irina Oana , Crumpei Iulia , Cristea Cristina , Preda Cristina , Mogos Voichita , Vulpoi Carmen

Background: Administration of recombinant GH (rhGH) to GH-deficient children has yielded conflicting results concerning its impact on thyroid function. Data about patients developing subclinical hypothyroidism are scanty, but it is thought to be associated with impairment of metabolic profile and lower growth response.Objective: To investigate the frequency of SH in children with pituitary dwarfism treated with rhGH, as well as its influence on rhGH ther...