ESPE Abstracts

Background: Being born small for gestational age (SGA) has been associated with a reduction in health-related quality of life (HRQoL) and more problem behaviour. Growth hormone (GH) treatment, which leads to a significant improvement in adult height (AH), improves HRQoL and decreases problem behavior in SGA children. However, such results are very limited in SGA adults who were treated with GH during childhood.Objective:...

Introduction: Boys born small for gestational age (SGA) often have undermasculinized genitalia. Little is known about the pubertal development and gonadal function on a longer-term in this specific group of males.Aims: To determine the (pubertal) development and long-term urological and endocrine outcome of undermasculinized boys born SGA compared to undervirilized boys born appropriate for gestational age (AGA).<p c...

Summary Answer: Most primordial/primary oocytes were found to have a 46,XX karyotype. Chromosome patterns of the ovarian cells were different from that observed in other tissues.Background: TS is a chromosomal condition associated with partial or complete absence of one of the two X-chromosomes. Females with TS have a limited reproductive lifespan due to an accelerated loss of germ cells. It has been hypothesized that vi...

Introduction: Adrenocortical tumors are very rare in children, with a prevalence of just 0.3 cases/million/year. Autonomic hormone production by adrenal cortical tumors may cause peripheral precocious puberty.Case report: A 4-year-old boy was presented by his parents because of pubertal behavior with aggressive features and a significant increase in the size of the penis. The parents also noticed a strong growth spurt and sweat odor. The boy had a good g...

Background: Being born small for gestational age (SGA) has a negative effect on health-related quality of life (HRQoL) and self-perception. This might be more negatively influenced by postponement of puberty using additional gonadotropin-releasing hormone analogue (GnRHa) treatment.Methods: 154 adolescents born SGA participating in a large Dutch growth hormone (GH) trial (75 with 2 years of GnRHa-treatment) completed the TNO-AZL Adults Quality of Life qu...

Background: GH treatment results in a decrease in fat mass (FM) and insulin sensitivity (Si), and an increase in lean body mass (LBM). Only limited data are available on the longitudinal changes after discontinuation of GH treatment in SGA adults, aged 21 years.Objective and hypotheses: To assess longitudinal changes in body composition (BC) and glucose homeostasis after stop of GH treatment in SGA adults.Method: 197 previously GH-...

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: Small for gestational age (SGA), defined as ≤−2.0 SDS birth length or weight, is a condition seen in up to 3% of all newborn. Most SGA children catch up height in postnatal life. In a significant number (~10%), however, height remains below the third centile. Recombinant GH therapy is indicated when growth failure continues to 4 years of age. The pathophysiological basis of SGA is complex: monogenic disorders and/or fetal programming by environmental fa...

Background: Silver Russell syndrome (SRS) is characterized by low birth weight, severe postnatal short stature and distinctive facies. In ~50% of patients, (epi)genetic alterations can be detected (~40% hypomethylation of H19 on chromosome 11, ~10% maternal uniparental disomy (UPD) 7). As SRS patients are usually born small for gestational age (SGA), they are treated with GH to improve height. However, data on long-term effects of GH treatment in SRS patients are very limited....

Introduction: Phosphoglucomutase 1 catalyzes the interconversion of glucose-6-phosphate and glucose-1-phosphate. Phosphoglucomutase 1 deficiency (PGM1-CDG), previously termed glycogenosis type XIV (OMIM 612934), is a rare variant of the congenital disorders of glycolysation (CDG), resulting in abnormal attachment and processing of protein linked N-glycans. We present a girl with PGM1-CDG and delayed pubertal development and review the endocrine findings of the few pat...