ESPE Abstracts

Background: The methylation of IGF1 promoter P2 was reported to negatively correlate with serum IGF-1 concentration and rhGH treatment response in children with idiopathic short stature. These findings have not yet been confirmed.Objective: This study aimed to determine IGF1 promoter P2 methylation in short children treated with rhGH and correlate clinical parameters with the methylation status. In addition, long-term st...

Background: Maternal ovarian luteoma is a rare condition that may cause virilization of female fetuses.Case presentation: We present the case of a baby born at 29 weeks gestational age to a 20 yo mother with history of two spontaneous abortions and no live births. Physical exam after birth revealed ambiguous genitalia, with a stretched phallic length of 1 cm with hypospadias on the ventral surface of phallus and complete fusion of rugated labioscrotal fo...

Background: Neonatal hyperthyroidism is almost always transient and related to the passage of maternal thyroid stimulating immunoglobulins (TSI). Positive TSI levels in a neonate is often diagnostic of neonatal Graves disease. The manifestation of symptoms has not been well characterized in premature infants.Clinical Case: A female infant was delivered at 27×4/7 weeks gestational age, with a birth weight of 827 g. Her mother was diagnosed with Grave...

Background: Premature pubarche is the appearance of pubic hair before 8 years in girls and 9 years in boys, being more frequent in girls. Current literature demonstrates associations between premature pubarche and metabolic and cardiovascular diseases.Objective and hypotheses: To evaluate the frequency of cardiovascular disease risk factors in girls with isolated premature pubarche (IPP).Method: Observational study using data from ...

Introduction: Diabetic ketoacidosis (DKA) is a potentially fatal hyperglycemic emergency primarily associated with type 1 diabetes mellitus (T1D). The association between DKA and severe hypertriglyceridemia has already been previously discussed with a prevalence ranging between 7.1%-25%, with pancreatitis present in the majority of cases. Epidemiological data in the pediatric age are scarce and not well established. Its etiology is not yet fully known. The &qu...

Background: Animal models of insulin-dependent diabetes show hyperactivity of hypothalamus–pituitary adrenal (HPA) axis, independently of hypoglycaemia. Few data exists regarding type 1 diabetes (T1D) in children.Objective: To describe HPA axis activity according to the anxiety levels in prepubertal T1D children.Method: Prepubertal T1D children and siblings of T1D children (controls) were included. State-Trait Anxiety Inventor...

Capillary hyperglycemia in critically ill infants is a situation with numerous interfering factors, from acute illnesses to concomitant use of medications and may or may not be a manifestation of endocrinological urgency. Clinical case: Female patient, 2 months old, with failure to thrive, hepatomegaly without cholestasis, polyuria and compensated metabolic acidosis. On admission, capillary blood glucose levels above 200 mg/dL were measured even without concomitant use of cort...

Background: The increasing number of transgender adolescents presenting in early puberty requires to investigate the effects of long-term puberty suppression and gender-affirming hormones (GAH) on body composition and metabolism. Clinical studies have ethical and practical limitations. A preclinical mouse model may be helpful to gain mechanistic insights.Methods: Prepubertal (4week-old) female mice were treated with the ...

Background: Transgender individuals increasingly present at gender services in childhood. Consequently, to suppress pubertal development, more adolescents are long-term exposed to gonadotropin-releasing hormone analogues (GnRHa), from onset of puberty until start of gender-affirming hormones (GAH), around 16 years. Prolonged GnRHa may compromise bone health more than shorter-term treatment. If earlier start of GAH, when psychologically indicated, may partially...

Introduction: Early-onset severe obesity (before five years of age) without intellectual deficit, dysmorphisms, or malformations raises the hypothesis of monogenic obesity. The leptin receptor (Lepr) pathway is essential for food intake regulation, energy expenditure, and body weight. Mutations in leptin and the Lepr have been shown to cause early-onset severe obesity in mice and humans.Objective: To report the clinical ...