hrp0089fc2.3 | Bone, Growth Plate & 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...

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....

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...

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 ...

hrp0082p2-d2-542 | Puberty and Neuroendocrinology (1) | ESPE2014

GH Excess and Pseudoprecocious Puberty in a 8-Year-Old Boy with Mccune–Albright Syndrome

Ertl Diana-Alexandra , Gojo Johannes , Aubrunner Daniela , Haeusler Gabriele

Background: McCune–Albright syndrome (MAS) is defined by skin, bone and glands disorders, due to activating mutations in the GNAS1. Clinical presentation is heterogeneous. Reports about GH excess in MAS patients are scarce.Case report: We present the case of an 8-year-old male, previously diagnosed with mono-ostotic fibrous dysplasia of the skull, referred due to signs of pubertal development since the age of 6. The patient presented only 1...

hrp0084p2-208 | Bone | ESPE2015

Bone Mineral Density in Children and Adolescents with Vertical HIV Infection

Vargas Deisi Maria , Prust Daniela Oliveira , Galvao Jose Carlos

Background: Chronic diseases are the main causes of bone mass reduction in childhood and adolescence. Different aspects related to the process of bone acquisition and maintenance may be affected. Studies had point out the presence of bone mass reduction in children and adolescents with HIV infection with association to antiretroviral use, chronological age (CA), weight and serum CD4 T-cell counts. However, others do not.Objective: To evaluate bone minera...