hrp0086p2-p275 | Diabetes P2 | ESPE2016

Pancreatic Reserve and Metabolic Control of Type 1 Diabetes in a Cohort of Spanish Children and Adolescent

Laura Bertholt Zuber Maria , Cristina Luzuriaga Tomas Maria , Andres de Llano Jesus , Freijo Martin Concepcion , Naranjo Gonzalez Cristina

Objective: To evaluate the pancreatic reserve and metabolic control in our patient diagnosed of type 1 diabetes over the last 20 years.Method: Retrospective cohort study of all patients <15 years, diagnosed in our community between 01/01/1995 and 31/12/2014. Variables: gender, age at diabetes debut, age at study, c-peptide after stimulation with glucagon at debut and 1 month after, HbA1c at debut, 1 month, 1 year, 2 years, 5 and 10 years of debut. Co...

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...

hrp0082p1-d1-241 | Thyroid | ESPE2014

Twin Couples and/or Triplets Discordant for Congenital Hypothyroidism at Birth: the Importance of the Re-screening at 2–4 Weeks of Life

Olivieri Antonella , Medda Emanuela , Cassio Alessandra , Weber Giovanna , Costa Pietro , Calaciura Francesca , Vigone Maria Cristina , Russo Valentina Di , Fazzini Cristina

Background: A high risk of congenital hypothyroidism (CH) has been documented in multiple pregnancies. Over the years special screening procedures for preterm and twin babies (re-screening at 2–4 weeks of life) have been adopted by many screening laboratories worldwide. However, no extensive studies have been performed to verify how many co-twins with negative test at first screening (3–5 days of life) become positive at re-screening, and the utility of a long-term f...

hrp0082p2-d3-508 | Perinatal and Neonatal Endocrinology | ESPE2014

Various Presentations of X-linked Adrenoleukodystrophy: Case Reports

Fadur Alina Daniela , Constantinescu Aurora , Rusu Cristina , Manolachie Adina , Bodescu Ioana , Branisteanu Dumitru D , Preda Cristina , Mogos Voichita , Vulpoi Carmen

Background: Adrenoleukodystrophy (ALD) is an X-linked disease characterized by impaired β-oxidation of very long-chain fatty acids (VLCFA) and in the most severe cases by inflammatory demyelination in the brain, adrenocortical insufficiency (AI), and death. Seven phenotypes were described, with a higher prevalence of the cerebral forms.Case report: We report two cases of ALD with different evolution, in February 2014. First case, an 11 years old boy...

hrp0084p3-959 | GH &amp; IGF | ESPE2015

Late Diagnosis of a Type II/III Mucolipidoses Treated with GH Replacement Therapy

Crumpei Iulia , Belceanu Alina , Armasu Ioana , Braha Elena , Rusu Cristina , Manolachie Adina , George Zmau , Preda Cristina , Vulpoi Carmen

Background: Mucolipidoses II/III (ML) are rare autosomal recessive lysosomal storage disorders (incidence: 1/325 000 live births). They have overlapping clinical phenotypes with mucopolysaccharidosis disorders and include growth retardation, facial dysmorphism, skeletal abnormalities, respiratory and heart diseases, hepatosplenomegaly and abdominal hernias. There is no specific treatment and the management has been limited to supportive care.Case present...

hrp0098p3-266 | Thyroid | ESPE2024

TRAb, a nasty joke: two cases of neonatal hyperthyroidism in newborns of mothers affected by autoimmune hypothyroidism.

Teresa Petralia Ilenia , Abbate Marco , Santagiuliana Cristina , Vincenzi Gaia , Cristofori Gloria , Fumagalli Monica , Barera Graziano , Cristina Vigone Maria

We present two cases of preterm newborns affected by autoimmune hyperthyroidism: patient A, a four-day-old male, and patient B, a seven-day-old female. Patient A was born at 33+6 gestational weeks (GW) by eutocic delivery; pregnancy was complicated by maternal autoimmune hypothyroidism. The mother was diagnosed with autoimmune thyroiditis eight years earlier, with positivity for anti- thyroperoxidase antibodies (TPOAb), in the absence of TSH receptor antibodies (TRAb). After a...

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...

hrp0098rfc12.5 | Thyroid | ESPE2024

Use of the FT3/FT4 ratio as a predictor of relapse in autoimmune hyperthyroidism: retrospective study on a cohort of 80 pediatric patients

Borysewicz-Sańczyk Hanna , Abbate Marco , Vincenzi Gaia , Mora Stefano , Tarantola Giulia , Santagiuliana Cristina , Teresa Petralia Ilenia , Del Giacco Luisa , Barera Graziano , Cristina Vigone Maria

The overall remission rate after 2 years of anti-thyroid drug treatment (ATD) in pediatric patients with autoimmune hyperthyroidism (AI) is 20-30%. The European Thyroid Association (ETA) recommends longer duration of ATD therapy in patients who have low likelihood of remission. Older age, female sex, ethnicity, small goiter, mild biochemical derangement at diagnosis, lower TSH receptor antibodies (TRAb) titer, history of other autoimmune conditions, duration of ATD treatment, ...

hrp0095p1-528 | Growth and Syndromes | ESPE2022

The SHOX gene between duplication and deletion: when the follow-up guides the treatment

Maggio Maria Cristina , Simona Alaimo , Flavia Volpe , Vincenzo Antona , Giovanni Corsello

SHOX gene haploinsufficiency is a well-documented cause of short stature and skeletal abnormalities; SHOX duplications appear very rare and of uncertain clinical significance. If relatively extended, they can result in SHOX overexpression with normal or tall stature. Partial SHOX duplications seems to have a more deleterious effect on skeletal dysplasia and short stature than complete SHOX duplications. MLPA (Multiplex Ligation-dependent Probe Amplification) analysis of SHOX/P...

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...