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 & 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...

hrp0095p1-536 | Multisystem Endocrine Disorders | ESPE2022

A case of septo-optic dysplasia and congenital hypothyroidism in a patient affected by Zhu-Tokita-Takenouchi-Kim (ZTTK) syndrome

Vincenzi Gaia , Cavallini Anna , Abbate Marco , Romaniello Romina , Pozzobon Gabriella , Cristina Vigone Maria

Septo-optic dysplasia (SOD) is a rare congenital disorder characterized by a classic triad of optic nerve hypoplasia, agenesis of septum pellucidum and corpus callosum, and hypoplasia of the hypothalamic-pituitary axis. Up to date, a shared consensus is not available and the diagnosis relies mainly on clinical and neuroradiological findings. Even though few genes have been described as responsible for this syndrome, the precise causes of SOD remain unknown and a combination of...

hrp0095p1-160 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

Central diabetes insipidus following immunization with anti-COVID19 BNT162b2 Comirnaty vaccine

Partenope Cristina , Pedranzini Quincy , Petri Antonella , Prodam Flavia , Bellone Simonetta , Rabbone Ivana

Introduction: The coronavirus disease 19 (COVID19) pandemic urged to develop new vaccines to reduce the morbidity and mortality associated with this disease. Recognition and report of potential adverse effects of these novel vaccines (especially the urgent and life-threatening ones) is therefore essential.Case Presentation: A 16-year-old boy presented to the Paediatric Emergency Department with polyuria (9 liters per day...

hrp0095p1-200 | Thyroid | ESPE2022

Severe and Non Severe Forms of Autoimmune Hypothyroidism in Childhood: A Retrospective Analysis of 256 Cases

Maltoni Giulio , Vincenzi Gaia , Scozzarella Andrea , Tarantola Giulia , Cristina Vigone Maria , Cassio Alessandra

Introduction: Hashimoto’s thyroiditis (HT) is one of the most common autoimmune diseases in childhood. Despite its frequency, there are still controversies concerning the spontaneous evolution and presentation in childhood. Aim and methods: this is a retrospective study aiming to evaluate clinical and hormonal features at diagnosis and auxological parameters after 3 years in subjects with Severe Autoimmune Hypothyroidism (SAH). We defined severe hypothyr...