ESPE Abstracts

Introduction: Monitoring steroid hormone levels of children with endocrine disorders, such as congenital adrenal hyperplasia (CAH) and disorders of sex development (DSD), can be challenging. Dried blood spot (DBS) sampling can be helpful for these patients. DBS sampling is less invasive, easier to sample, and simpler to transport and store compared to venous blood sampling. Additionally, DBS sampling can be done at home at any time of the day, thus improving p...

Objectives: Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21-OHD) is included in the Dutch Newborn Screening (NBS) since 2002. NBS for CAH consists of a 17-hydroxyprogesterone (17-OHP) measurement in dried blood spots (DBS) with gestational age-adjusted cutoffs. Previously, a second heel prick was performed in newborns with inconclusive results to reduce false-positives. In October 2021, 21-deoxycortisol (21-DOCL) was introduced as a s...

Down syndrome (DS) is characterized by a higher incidence of congenital hypothyroidism (CH) and a high prevalence of subclinical hypothyroidism (SH) early in life. Children and adults with DS have an increased risk of developing autoimmune thyroid disease, however CH and early SH cannot be explained by thyroid autoimmunity. The etiology of CH and early SH in DS remains to be elucidated. Considering the recently discovered genome-wide transcriptional and epigenetic alterations ...

Background: Congenital hypothyroidism (CH) is a common and preventable cause of mental retardation in children, and is detected using dried blood spots in many neonatal screening programs. Upon suspicion of CH, plasma free thyroxine (FT4) and thyroid stimulating hormone (TSH) concentrations are measured. CH can be of thyroidal or central origin (CH-T and CH-C, respectively). While CH-T diagnosis is based on an elevated plasma TSH in combination with a low FT4,...

Background: Congenital central hypothyroidism (CeH) may occur isolated, or in combination with other pituitary hormone deficiencies. Although a third causative gene for CeH was recently reported (IGSF1), the aetiology of isolated CeH has remained unexplained in most cases.Objective and hypotheses: We hypothesized that in three relatives with unexplained isolated CeH a mutation in another gene might be responsible for the phenotype.<p class="...