hrp0097p1-382 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2023

A new GATA-4 mutation in a child with disorder of sex development and central precocious puberty

Luppino Giovanni , Corica Domenico , Valenzise Mariella , Briguglia Silvana , Bertelloni Silvano , Li Pomi Alessandra , Wasniewska Malgorzata , Aversa Tommaso , Christian Denzer , Martin Wabitsch

Background: Disorders of sex development (DSD) are often due to disruption of the genetic programs that regulate gonad development. Some genes have been identified in these developmental pathways such as DAX-1, SOX-9, GATA-4 and others. The GATA-4 gene, located on chromosome 8p23.1, encodes GATA-binding protein 4 (GATA-4), a transcription factor that is essential for cardiac and gonadal development and sexual differentiation. Congenital heart disease (CHD) and...

hrp0097p1-186 | Thyroid | ESPE2023

Comparison of clinical features, therapy, and disease evolution in a population of children and adolescents with Graves' disease and Type 1 Diabetes compared to Graves' disease alone.

Bernardini Luca , Maltoni Giulio , Cristina Vigone Maria , Franceschi Roberto , Cardinale Giuliana , Mameli Chiara , Piscopo Alessia , Roppolo Rosalia , Savastio Silvia , Ortolani Federica , Randazzo Emioli , Giulia Lambertini Anna , Cassio Alessandra

Introduction: About 25% of children and adolescents with Type 1 Diabetes (T1D) have one or more associated autoimmune conditions. Although Graves' disease (GD) rarely occurs, considering the potential severity of manifestations, an early diagnosis and appropriate treatment are essential. The first line treatment is methimazole, whose use is not free from side effects; therefore, it is important to start with the most appropriate dosage.<p class="abste...

hrp0092p3-46 | Bone, Growth Plate and Mineral Metabolism | ESPE2019

Growth Hormone Treatment of a Patient with X-Linked Hypophosphatemic Rickets Caused by PHEX Mutation: Effects on Linear Growth

Rojek Aleksandra , Obara-Moszynska Monika , Niedziela Marek

Background: Hypophosphatemic rickets (HR) stands for a heterogenous group of rare disorders in which excessive renal phosphate wasting is observed. The main characteristics of X-linked HR (XLHR) (OMIM #307800) caused by mutation in PHEX (phosphate-regulating endopeptidase) gene (OMIM *300550) include bone deformities, disproportionately short stature, dental anomalies and hypophosphatemia with coexisting low renal phosphate reabsorption. The patie...

hrp0089p3-p031 | Bone, Growth Plate &amp; Mineral Metabolism P3 | ESPE2018

Growth Hormone Treatment of 2 Patients with X-linked Hypophosphatemic Rickets Caused by PHEX Mutation: Effects on Linear Growth

Rojek Aleksandra , Obara-Moszynska Monika , Niedziela Marek

Background: Hypophosphatemic rickets (HR) is a group of rare disorders caused by an excessive renal phosphate wasting. X-linked HR (XLHR) is caused by mutation in PHEX (phosphate-regulating endopeptidase) gene and is characterized mainly by bone deformities, disproportionately short stature, dental anomalies and hypophosphatemia with coexisting low renal phosphate reabsorption. Early treatment with vitamin D and phosphate improves the patient’s growth. Recombinan...

hrp0089p1-p082 | Diabetes &amp; Insulin P1 | ESPE2018

The Comparison of the Occurrence of Beta Cells Autoantibody and Regulatory T Cells (CD4+CD25+FoxP3+) in Patients with Type 1 Diabetes Mellitus, their Siblings and Healthy Children

Sieniawska Joanna , Krzewska Aleksandra , Ben-Skowronek Iwona

Background: Regulatory T cells (Treg) of phenotype CD4+CD25+FoxP3+ involves active suppression of excessive immune response. The population of Treg cells from patients with type 1 diabetes (DM1) have numeric and functional abnormalities. Although there are many reports of investigations on human and animal populations, the role of regulatory T cells in the development of type 1 diabetes is still unclear.Objective and hypotheses: The aim of the study is t...

hrp0089p1-p084 | Diabetes &amp; Insulin P1 | ESPE2018

The Comparison of the Occurrence of Beta Cells Autoantibody and Natural Killer Cells in Patients with Type 1 Diabetes Mellitus, Their Siblings and Healthy Children

Sieniawska Joanna , Krzewska Aleksandra , Ben-Skowronek Iwona

Background: Natural killer cells are a type of cytotoxic lymphocyte critical to the innate immune system. NK cells from patients with type 1 diabetes (DM1) have numeric and functional abnormalities. However, little is known about the number of NK cells in healthy siblings of children with DM1.Objective and hypotheses: The aim of the study is to compare the population of NK cells and the correlation between NK cells and beta cells autoantibody in healthy ...

hrp0086p2-p166 | Bone &amp; Mineral Metabolism P2 | ESPE2016

Diversity in Phenotype of Two Siblings and their with X-Linked Hypophosphatemic Rickets due to PHEX Mutation

Rojek Aleksandra , Kolesinska Zofia , Niedziela Marek

Background: Hypophosphatemic rickets (HR) is a group of rare disorders caused by an excessive renal phosphate wasting. The dominant form of X-linked HR (XLHR) is caused by mutation in PHEX (phosphate-regulating endopeptidase) gene. XLHR phenotype is characterized mainly by rickets, bone deformities, short stature, dental anomalies, hypophosphatemia, low renal phosphate reabsorption, normal serum calcium level, hypocalciuria, normal/low serum level of vitamin D (1,25(O...

hrp0086p2-p262 | Diabetes P2 | ESPE2016

Comparison of the Occurrence of Islet Autoantibodies in Siblings of Patients with Type 1 Diabetes Mellitus to Healthy Children

Krzewska Aleksandra , Sieniawska Joanna , Ben-Skowronek Iwona

Objective and hypotheses: The aim of the study is comparison of the occurrence of islet autoantibodies in healthy siblings of children with T1DM to healthy children from non-diabetic families.Method: Determination of anti-decarboxylase of the glutamic acid antibodies (anti GAD-Ab), anti-protein tyrosine phosphatase (anti IA2), and antibodies against zinc transporter eight (anti ZnT8) in 75 children with T1DM, their siblings – 105, and 77 healthy chi...

hrp0092p1-98 | Pituitary, Neuroendocrinology and Puberty | ESPE2019

Final Height in Oncological Growth Hormone Deficient (GHD) Children After Growth Hormone (GH) Therapy

Rodari Giulia , Cattoni Alessandro , Albanese Assunta

Background: Growth hormone deficiency (GHD) is the commonest hypothalamic-pituitary (HP) disorder in cancer survivors. The only few studies in literature addressing GH efficacy in a large cohort of patients concluded that, though improving height outcome, GH therapy may not entirely restore final height (FH) potential according to mid-parental height (MPH). Thus, in order to optimize outcome, more information on factors influencing growth response in these chi...

hrp0084p3-1205 | Thyroid | ESPE2015

Subclinical Hypothyroidism in Children and Adolescents – A 5-year Single-center Follow-up Study

Gawlik Aneta , Such Kamila , Dejner Aleksandra , Zachurzok Agnieszka , Antosz Aleksandra , Malecka-Tendera Ewa

Background: Most experts agree that subclinical hypothyroidism (SH) represents early, mild thyroid failure, however there are controversies about the evolution of SH over time.Objective and hypotheses: The aim of the study was to analyse the dynamics of thyroid dysfunction in children initially referred as patients with SH.Method: During the period January 2010 – January 2015, 258 unselected consecutive SH patients (140 girls)...