ESPE Abstracts

Background: Congenital thyroid dysgenesis usually occurs sporadically and may even be discordant in monozygotic twins. However, when caused by inactivating mutations in the TSH receptor (TSHR) it can be inherited recessively, typically resulting in thyroid gland hypoplasia. We present a new familial case of thyroid dysgenesis with two siblings of consanguineous parents. The daughter was identified in neonatal screening with severely elevated TSH and thyroid agenesis on ultraso...

Background: POMC plays a major role in central body weight regulation. Recently we have shown that a POMC hypermethylation variant is significantly associated with obesity in children and adolescents (Kuehnen et al. PLoS Genetics 2012).Objective and hypotheses: Here we report about our extended studies to elucidate the mechanism behind the occurrence of the POMC hypermethylation variant in obese individuals.<p clas...

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....

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</...

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...

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...

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...

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 ...

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...

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 ...