hrp0082p3-d3-944 | Puberty and Neuroendocrinology (1) | ESPE2014

Central Precocious Puberty and Autism: Three Cases Report

Amaral Daniela , Lopes Lurdes

Background: Central precocious puberty (CPP) is a rare disorder that occurs five times more often in girls. Patients are mostly healthy children whose pubertal maturation begins at an early age: girls <8 years; and boys <9 years. Imaging usually reveals no abnormalities in girls while in boys abnormal MRI findings are more frequent.Objective and hypotheses: We describe three cases of CPP in children with autism, a rarely reported association....

hrp0084p1-31 | Diabetes | ESPE2015

Type 1 Diabetes Onset: A Story of Innate and Adaptive Immune Cells?

Fitas Ana Laura , Martins Catarina , Alonso Anabela , Nunes Gloria , Pina Rosa , Amaral Daniela , Lenzen Sigurd , Lopes Lurdes , Borrego Luis Miguel , Limbert Catarina

Background: Type 1 diabetes (T1D) is a T cell-mediated autoimmune disease. A more complex immunological picture is being unraveled, with a key role of innate immune cells at disease onset and maintenance. For new therapies based on immune-modulation to be possible, immune characterization of T1D patients is crucial.Objective and hypotheses: We aimed to characterise innate and adaptive immune cells of T1D children at a well-defined ‘onset-window&#146...

hrp0084p2-439 | Gonads | ESPE2015

Markers of Fertility and Quality of Life in Adolescents with Chronic Endocrine Diseases at the Time of Transition from Paediatric to Adult Care

Mittnacht Janna , Choukair Daniela , Klose Daniela , Inta Ioana , Bettendorf Markus

Background: 25–50% of paediatric patients with chronic endocrine diseases are lost for follow-up in adult care.Aims and objectives: A standardised medical and psychological work-up to identify disease specific morbidity and to comprehend quality of life in adolescents with chronic endocrine diseases at the time of transition from paediatric to adult care.Methods: The quality of life (DISABKIDS1 and KIDSCREEN2</...

hrp0082p3-d3-649 | Autoimmune Endocrine Disease | ESPE2014

Rare Association of Diabetes Insipidus with Autoimmune Thyroiditis

Kocova Mirjana , Gjorceva Daniela Pop

Background: Diabetes insipidus of central origin has been described in association with other endocrine autoimmune diseases as a rare condition in adults. In children this association is extremely rare.Objective and hypotheses: To present a girl with a concurrent appearance of diabetes insipidus and autoimmune thyroiditis.Method: Diagnostic approach for both diseases.Results: A girl of 11 years presented with...

hrp0089fc2.3 | Bone, Growth Plate &amp; Mineral Metabolism 1 | ESPE2018

Clinical Course of Hypoparathyroidism in Patients with APECED (APS1)

Laakso Saila , Tillander Daniela , Makitie Outi

Background: Hypoparathyroidism (HP) is the most common first endocrinopathy in patients with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome (APECED or APS1), an autosomal recessive condition caused by mutations in the AIRE gene. Treatment of HP has not changed over the decades and parathyroid hormone is used only rarely.Aim: To describe clinical characteristics and course of HP in a cohort of patients with APECED and eva...

hrp0082p1-d3-100 | Sex Development | ESPE2014

Quality of Life in a Large Cohort of Adult Brazilian Patients with 46,XX and 46,XY Disorders of Sex Development from a Single Tertiary Centre

Amaral Rita , Inacio Marlene , Brito Vinicius , Bachega Tania , Oliveira Ari , Domenice Sorahia , Denes Francisco , Sircilli Maria Helena , Arnhold Ivo , Madureira Guiomar , Gomes Larissa , Costa Elaine , Mendonca Berenice

Background: Few studies have focused on the quality of life (QoL) of patients with disorders of sex development (DSD).Objective and hypotheses: Our aim was to evaluate QoL in DSD patients with defined diagnoses followed until adulthood in a single tertiary centre.Method: Subjects: adult DSD patients (56 patients with 46,XX DSD – 49 with female social sex and seven with male social sex as well as 88 patients with 46,XY DSD &#15...

hrp0092p2-269 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology | ESPE2019

Pseudo-Precocious Puberty in Children Triggered by Incidental Transdermal Contamination with Topical Sex Steroids Through Parents

Yakovenko Vira , Choukair Daniela , Duffert Christin , Mittnacht Jana , Klose Daniela , Bettendorf Markus

Introduction: Pseudo-precocious puberty may be triggered by either endogenous or exogenous sex steroids. Accidental ingestion of contraceptives, anabolic steroids or life style products containing sex steroids as well as transdermal transmission of topical sex steroids may cause early onset of secondary sexual development.Objective: To report the clinical course of incidental contamination with topical sex steroids in ch...

hrp0084p3-1075 | Hypo | ESPE2015

Genetic Causes of Congenital Hyperinsulinism in Slovakia

Stanik Juraj , Valentinova Lucia , Skopkova Martina , Rosolankova Monika , Stanikova Daniela , Ticha Lubica , Gasperikova Daniela , Klimes Iwar

Background: Congenital hyperinsulinism (CHI) is the most common cause of the persistent hypoglycemia in children. Mutations in KCNJ11 and ABCC8 genes coding potassium channel subunits are responsible for a significant proportion of CHI patients. The type of mutation correlates with the type of B-cell hyperplasia (focal or diffuse), and determinates further diagnostics, treatment and prognosis of disorder.Aims and objectives: The aim of ...

hrp0084p3-903 | Fat | ESPE2015

Genotype and Phenotype Characterisation in Two Patients with MEHMO Syndrome

Stanik Juraj , Skopkova Martina , Stanikova Daniela , Ukropec Jozef , Danis Daniel , Kurdiova Timea , Ukropcova Barbara , Ticha Lubica , Klimes Iwar , Gasperikova Daniela

Background: MEHMO (microcephaly, epilepsy, hypogenitalism, mental retardation, obesity) is a rare disorder with X-linked inheritance. Only three families with this disorder were described previously, with the linkage to a region on X chromosome. No specific gene has been identified so far.Aims and objectives: The aim was to identify the genetic etiology in two unrelated Slovak male probands (4.5 and 1.5 years old respectively) with the clinical diagnosis...

hrp0092p3-307 | Late Breaking Abstracts | ESPE2019

Autoimmune Thyroiditis in Beta Thalassemia Major after the Hematopoietic Stem Cell Transplantation - Case Report

Tankoska Maja , Murtezani Avdi , Jovanovska Anamarija , Miladinova Daniela , Kocheva Svetlana

Introduction: Beta thalassemia is a common genetic disorder in Mediterranean countries. Congenital hypothyroidism is also a condition resulting with deficiency of thyroid hormone in newborn infants. Autoimmune thyroid dysfunction in childhood patients with thalassemia major is uncommon and poorly described. We report a case of a child with two independent diseases - clinical hypothyroidism diagnosed in early childhood, and beta thalassemia major who developed ...