ESPE Abstracts

Background: Thyroid hormones are essential in the regulation of foetal and post-natal neurodevelopment. Despite early diagnosis and treatment of congenital hypothyroidism (CH) difficulties with language, hearing, memory and motor function persist for some children. However, comprehensive data about hearing, language and communication function in children with CH are not widely available.Objective and hypotheses: To evaluate hearing, language and communic...

Background: Screening for congenital hypothyroidism (CH) in the Russian Federation started in 1994. A survey was conducted in 1994 on the basis of 32 laboratories, and since 2007 newborn screening is being carried out in 79 laboratories of 83 regions of the Russian Federation.Objective and hypotheses: To study the prevalence of CH in Russia and in different regions of the Russian Federation.Method: Official statistics on CH screeni...

Background: Since the initiation of neonatal screening-programs for congenital hypothyroidism (CH) in the 1970’s, an increase in the incidence of CH has been observed. This change has been attributed to the gradual use of lower TSH cut-offs that lead to the detection of milder cases of CH. Based on currently used screening cut-offs, CH occurs in approximately 1:2 000 to 1:4 000 newborns, varying by geographic location and ethnicity. A female predominance, approaching a 2:...

Background: Only few studies have focused on neurosensory hearing function of patients with congenital hypothyroidism (CH) identified by CH screening programs and treated early and, therefore, this issue remains still controversial.Objective and hypotheses: The aim of this study was to ascertain whether an early and adequate replacement treatment may be able to prevent sensorineural hearing loss in 32 screened children with CH and no associated risk fact...

Background: Congenital hypothyroidism (CH) is one of the preventable causes of intellectual disability. L-thyroxine is a drug of choice for CH treatment to preserve normal brain development and function.Objective: to evaluate intellectual outcomes at preschool age in early treated CH.Materials and Methods: This retrospective chart review was conducted on 27 treated children with CH...

Background: Microdeletions of the chromosomal region 2q31.1 are rare. Growth retardation is reported in the majority of these patients, but information about growth hormone status is not given in the literature. Other typical features in 2q31.1 deletion syndrome are developmental delay, limb abnormalities, short palpebral fissures, heart defects, among others.Objective and hypotheses: A 12 year old girl presented at the age of 7 years with severe growth ...

Case presentation: We recently started a 9-year-old girl with hypoparathyroidism due to a mutation in the PTH gene on a pump therapy with 1–34 rhPTH. She has received calcitriol and calcium since the age of 4 months. Bilateral nephrocalcinosis stage II/III was diagnosed at a young age. So far, her renal function remains normal. During the last 18 months symptomatic hypocalcemic episodes have become more frequent despite increased calcium and calcitriol doses. Continuous r...

Purpose: The purpose of this study was to retrospectively analyze the clinical, laboratory, imaging findings (sonography and Tc99m-pertechnetate scanning) in patient with congenital hypothyroidism (CH) who completed 3 years of LT4 medication.Method: 86 patients with congenital hypothyroidism were retrospectively reviewed. Medical history, laboratory, radiologic finding at the time of CH diagnosis were evaluated. Correlat...

Background and Objective: Congenital hypothyroidism (CH) is mostly detected with neonatal newborn screening (NBS). CH is the most common neonatal endocrine disorder with an incidence of 1:2,000-1:4,000. However the molecular etiology is sill poorly understood, considering pathogenic variations in candidate genes have been found only in 10-20 % of CH. We performed mutations screening of causative genes through a systematic Next Generation Sequencing (NGS) a...

Background: Since the initiation of neonatal screening programs for Congenital Hypothyroidism (CH) in the 1970’s, a gradual decrease of TSH cut-off limits has been observed worldwide. Nevertheless, lack of universal consensus has led to wide variation of cut-off limits and LT4 therapy criteria among screening programs, even within the same country. The Greek neonatal CH screening program is carried out by a single laboratory that uses one of the lowest cut-off limits worl...