ESPE Abstracts

Osteoclasts are bone-resorbing cells important in normal growth plate development and bone remodeling. The development of osteoclasts is potently driven by mononuclear RANK and osteogenic cell RANKL interaction. Denosumab is a monoclonal antibody drug that targets RANKL and inhibits osteoclastogenesis. It is a potent and effective treatment for pathologic processes that involve bone resorption, such as osteoporosis and bone metastases, conditions for which it is approved. Deno...

Glutamic acid decarboxylase (GAD) is the enzyme that catalyzes the conversion of L-glutamat into GABA, one of the classical neurotransmitters with neuroinhibitory function. GAD is present in GABAergic neurons and in pancreatic beta cells. It is remarkable that Anti-GAD antibody(Anti-GADab) can have different disease manifestations, i.e., Type 1 diabetes mellitus (T1DM), Stiff-Person Syndrome, limbic encephalitis (LE), epilepsy. Cooccurence of T1DM and LE is reported in the lit...

Background: Androgen excess in childhood is a common clinical presentation and might signify serious pathology. We have recently explored patterns and severity of androgen excess in a large female adult cohort to differentiate common polycystic ovarian syndrome (PCOS) from non-PCOS pathology, including congenital adrenal hyperplasia (CAH), ovarian hyperthecosis and adrenal and ovarian tumours (Elhassan et al., JCE&M 2018). Herein, we undertake a similar approach f...

Objectives: Current safety data do not indicate an association of GH therapy with increased risk for development/progression of tumours, or worsening of congenital cardiac conditions in individuals with Noonan syndrome (NS); however, data are limited. This report describes real-world safety data on GH therapy in paediatric patients with NS.Methods: Two complementary non-interventional, multicentre studies, NordiNet IOS (NCT00960128) and ANSWER Program (N...

Background: Premature adrenarche (PA) has been considered a benign condition. Recently, associations with increase androgen levels and PCOS have arisen.Objective: To determine whether PA in children at pubertal onset (TII) determines a different timing of pubertal events and a different pattern of ovarian and adrenal hormones.Methods: A total of 583 girls from the longitudinal cohort (Growth and Obesity Cohort Study, born 2002) wer...

Background: Congenital hyperinsulinism (CHI) is a rare disease mostly due to loss-of-function mutations of the ABCC8 or KCNJ11 genes, encoding the two subunits of the KATP channel. Gain-of-function mutations in glutamate dehydrogenase 1, encoded by the GLUD1 gene, are the second most common cause of CHI.Objective and hypotheses: The majority of patients with a GLUD1 CHI respond to diazoxide, but little is kn...

Background: Birth weight (BW) is often used as a proxy for gestational age (GA) by studies on preterm birth. Recent data indicate that the terms very-low-birth-weight (VLBW; BW <1500 g) and very preterm (VP; GA <32 weeks) birth are not equivalent with regard to perinatal outcomes and postnatal growth up until final height. It is unknown whether the differences between these terms could be extended to long-term neurodevelopmental outcomes.Objectiv...

Background: Mosaic Turner syndrome (TSM) commonly occurs in the form of 45,X/46,XX and 45,X/46,Xiq, although mosaicism including the presence of a Y chromosome has been well documented. It is associated with increased risk of gonadoblastoma (GB).Objective and hypotheses: To date, there are only six reported cases of TSM with a trisomy 18 karyotype, and only two of these were phenotypically female with 45,X, 47,XY+18 karyotype.Metho...

Background: Preterm newborns are at risk of becoming transiently hypothyroxinaemic, which has been associated with neurodevelopmental impairments in childhood. It is not known whether these associations persist into adulthood.Objective and hypotheses: We studied the relation between transient hypothyroxinaemia of prematurity and IQ, neuromotor functioning and problem behaviour at young adult age.Method: This was a prospective study...

Background: Studies have shown that genetic variations in the FSH pathway (SNPs: FSHB −211G>T, FSHR −29G>A, and FSHR 2039A>G) affect peripubertal levels of serum FSH and age at pubertal onset in girls.Objective and hypotheses: Genetic variations in the FSH pathway reflect circulating levels of female reproductive hormones during the postnatal gonadotropin surge.Method: Blood samples were taken in girls of th...