ESPE Abstracts

Background: Ellis van Creveld syndrome (EVC) (chondroectodermal dysplasia) is a rare, multisystem disorder. It probably affects only around 1 in every 150,000 individuals. It is characterized by a long, narrow trunk and shortened arms and legs; extra fingers (postaxial polydactyly), and abnormalities of the oral region and teeth. In infants, non-bony manifestations, particularly congenital heart defects, may be health or life-threatening.Case presentatio...

Body Mass Index (BMI) has a high association with body fat percentage and direct association with a higher degree of comorbidities. Categorizing patients only by the degree of obesity, as has been done over time, restricts the possibility of detecting and giving timely treatment to other aspects. The Edmonton Obesity Staging System for Pediatrics (EOSS-P) has been proposed as a tool to categorize obesity not only by BMI, but also by assessing metabolic complications, functiona...

Background: Recently, a national database has been developed to register yearly data from all children detected with CAH in the neonatal screening program from 2002 onwards. So far longitudinal data of 105 children have been registered (roughly 65% of Dutch CAH patients) to evaluate medical treatment and long-term effects in CAH. A national CAH work group developed guidelines for diagnostics and follow up in CAH.Objective and hypotheses: Aim of our curre...

Background: The syndrome consisting of primary hypothyroidism, precocious puberty, and massive ovarian cysts was termed Van Wyk and Grumbach syndrome (VWGS) in 1960. Chronic lymphocytic thyroiditis is the more common cause of hypothyroidism in children. In patients with severe longstanding hypothyroidism, the sella turcica may be enlarged due to thyrotrope hyperplasia. Puberty tends to be delayed in hypothyroid children in proportion to the retardation in the bone age, althoug...

The Silver-Russel syndrome (SRS) is characterized by an intrauterine growth retardation accompanied by postnatal growth deficiency. Affected individuals typically have proportionately short statue, finger deformities as well as typical facial features. About 10% of individuals with SRS have maternal uniparental disomy for chromosome 7 (UPD7) and 35%–50% showed hypomethylation of the parental imprinting center region 1 (ICR1) of chromosome 11p15.5. In the recent past also ...

Background: Recently, the first patients with resistance to thyroid hormone (RTHα) due to inactivating mutations in TRα1 have been identified. These patients are characterized by growth retardation, delayed bone development, mild cognitive defects, delayed motor development and abnormal thyroid function tests.Objective and hypotheses: We hypothesized that the phenotype of a TRα mutation depends on its location, e.g. if it is present only i...

Introduction: Among children with short stature, some show persistent IGF-I levels <-2.0 SDS despite a normal growth hormone (GH) response in a stimulation test. This may be caused by conditions that could benefit from recombinant human GH (rhGH) therapy (e.g. GH neurosecretory dysfunction, bioinactive GH, partial GH insensitivity). Therefore, the IGF-I generation test (IGFIGT) was implemented in 2006 using a national, standardized protocol. Children with a...

Context: For transgender women undergoing gender-affirming hormone therapy (HT), breast development is an important treatment outcome. Since earlier studies showed small breast volumes in trans women treated with HT, we hypothesized that testosterone exposure during puberty might negatively influence breast development and that early initiation of puberty suppression (PS) might have a positive effect on breast development.Aim:</s...

Background: Loss-of-function of immunoglobulin superfamily, member 1 (IGSF1) causes an x-linked syndrome of central hypothyroidism, macroorchidism, delayed pubertal testosterone rise, variable prolactin deficiency, and variable partial growth hormone deficiency in childhood. The clinical features and gene expression pattern suggest a pivotal role for IGSF1 in the pituitary, but detailed knowledge on pituitary hormone secretion in this syndrome is lacking.<p class=...

Background: Hypothalamic-pituitary (HP) deficiencies are frequent in childhood brain tumor survivors (CBTS) after cranial radiation. There is currently no consensus on the most optimal way to screen for HP dysfunction regarding diagnostic tests or time interval. It is not known whether MRI changes in time in the HP-region or in brain volume are predictive of HP dysfunction.Aim: To quantify changes in the HP-region and in brain volume on MRI in CBTS after...