IMPE Abstracts

Background: Perinatal stress, fetal growth restriction (FGR) or being small for gestational age (SGA) poses a high risk for neonatal hypoglycemia. The exact pathomechanism is unknown. In an animal model, increased levels of catecholamines were found in FGR sheep, causing β-cell adaptation with suppressed intrauterine insulin secretion, subsequently resulting in a hyper-responsive insulin secretion once the adrenergic stimulus subsides, e.g. after birth. W...

Background: Fetal growth restriction (FGR) has been suggested to cause persistent effects long after birth, namely fetal programming (FP). Although FP has drawn attention, a number of questions remain to be answered. One of the major questions is time dependency, i.e., whether the timing when FP occurs would affect the outcome after birth. Indeed, in neonates born small for gestational age (SGA), a consequence of FGR, the potential of catch-up growth which usu...

Background: Congenital hyperinsulinism (CHI) is characterized by often severe hyperinsulinemic hypoglycemia due to pancreatic beta cell hypersecretion of insulin. Treatment delay confers a high risk of neurodevelopmental impairment (NDI).Methods: We performed a single-center retrospective review of medical records of CHI-patients with EEG recordings, with addition of a blinded, quantitative EEG-analysis with age-matched ...

Background: Cardiometabolic (CM) risk is linked to being born small for gestational age (SGA, birthweight <-2SDS). Using data from the Avon Longitudinal Study of Parents and Children (ALSPAC), an ‘omic signature in SGA catch-up predicts pre-hypertension in adolescence (Garner et al JES 2021). Fetal growth restriction (FGR) alone may be linked with greater CM risk. Therefore, we focused on CM risk in children born following pregnancies at high...

Background: 46,XX testicular/ovotesticular disorders of sexual development (T/OT DSD) are infrequent congenital conditions characterized by the presence of functional ovarian and testicular parenchyma or only testicular tissue in 46,XX individuals. Affected subjects present with different degrees of virilization of the external genitalia and development of Müllerian and Wolffian derivatives. Our knowledge about these conditions has been enlightened with t...

Introduction: We have previously reported strong association of cryptorchidism (CO) and hypospadias (HS) with a specific "AGATC" haplotype within a > 34 kb tight linkage disequilibrium (LD) block spanning five SNPs designated SNPs10–14 in the 3' region of ESR1 (JCEM 2006; Hum Reprod 208). Here, we report that a microdeletion (DESR1) identified from the specific haplotype constitutes a widely spread susceptibility factor for the...

Background: Atypical genitalia represents an important medical and social emergency. Timely evaluation of children with atypical genitalia is central to reducing morbidity, mortality, and familial anxiety. Lack of training in Pediatric Endocrinology and restricted access to Pediatric Endocrinologists makes developing tools for point-of-care guidance for children with atypical genitalia desirable. Objective: To develop an...

Constitutional delay of puberty (CDP) and congenital central hypogonadism (CH) show great overlap in clinical features and in gonadotrophin and testosterone serum concentrations in boys. The gold standard to distinguish both entities relies on the assessment of pubertal stage beyond 18 years of age. The long lasting insufficient FSH activity in boys with congenital CH may result in lower AMH and inhibin B serum concentrations compared with boys with CDP....

Objectives: Vosoritide is a potent stimulator of endochondral bone growth and is in development for the treatment of achondroplasia, the most common form of disproportionate short stature. We previously reported on a 52-week, phase 3, pivotal study that demonstrated a significant improvement in annualized growth velocity (AGV) when vosoritide was compared to placebo in children with achondroplasia aged 5-18 years (Savarirayan et al, Lancet, 2020). Thi...

Background: FGFR3 is a negative regulator of bone growth. Gain-of-function mutations in the FGFR3 gene result in different skeletal osteochondrodysplasias, including achondroplasia (ACH) and hypochondroplasia (HCH). ACH is the most common form of rhizomelic short stature, affecting between 1 in 15,000 and 1 in 30,000 live births worldwide. The incidence of HCH is thought to be approximately the same as ACH. Currently, there is only one approved therap...