ESPE Abstracts

Background: Maternal diabetes is a pathologic state that increases the incidence of complications in both the mother and the foetus. Patients with diabetes mellitus (DM) may exhibit reproductive abnormalities, including PCOS and hypogonadotropic hypogonadism. Diabetes during pregnancy is an endocrine disruptor and studies performed in animal models have shown abnormalities in gonadal function in the offspring, but it is unknown whether pre-gestational (PGDM) and gestational di...

Background: Growth is a complex process influenced by several genetic factors both pre and postnatal, in which 80% of the height variation is explained by genetic factors. Nevertheless, the standard medical evaluation of short stature (SS) relies upon physical examination and laboratory parameters and identifies a pathological cause of SS in 1–40% of individuals. Recent advances in genetic diagnosis are revolutionizing the clinician’s ability to obtain a molecular di...

Background: In total of 48,XXYY Syndrome occurs in 1:20.000–1:50.000 male births. It used to be considered as a variant of Klinefelter syndrome, but now it is considered as a distinct clinical and genetic entity with increased risks for congenital malformations, additional medical problems and more complex psychological and neurodevelopmental involvement. 48,XXYY Syndrome results from the fertilization of a normal female oocyte (Xm), with an aneuploid sperm (XpYpYp) produ...

Introduction: Prader-Willi Syndrome (PWS) is a complex hypothalamic disorder, causing hypotonia, intellectual disability (ID), pituitary hormone deficiencies and hyperphagia. Up to 4% of young patients with PWS die unexpectedly, every year. The mean age of reported deaths in PWS is 29.5 years; 20% of deaths even occur below age 18 years. Mortality data show that more than 50% of deaths are of cardio-pulmonary origin. Morbid obesity, diabetes and hypertension are strong risk fa...

Introduction: Maternal deprivation (MD) during neonatal life has diverse long-term effects, including modification of metabolism. Some of these effects are sexually dimorphic. We have previously reported that MD in rats blocks the physiological neonatal leptin surge, which could underlie the long-term metabolic changes.Hypothesis: We hypothesized that replacement of leptin during MD would normalize long-term endocrine changes.Metho...

Background and Aims: Turner Syndrome (TS), 45X0, is the most common chromosomal pathology affecting females, occurring in 1:2500 to 1:5000 female infants. The typical phenotype includes short stature, gonadal dysgenesis leading to sexual infantilism, low-set ears, low rear hairlin, mamary hypertelorism, neck webbing, gothic palate, irregular rotation of the elbows, shield chest, shortening of the 4th metacarpal, low hairline, shortening of lower extremities, renal disorders a...

Background: Magnetic resonance imaging (MRI) of the hypothalamic-pituitary area is extremely useful in the investigation of patients with central diabetes insipidus (CDI) due to infiltrative processes.Objective: We aimed to associate pituitary stalk thickness with the etiology of CDI and hormone deficiencies.Method: A retrospective single-center study of 15 patients (four boys and 11 girls) with CDI was performed and clinical-epide...

Background: GnRH analogs (GnRHa) have been used in treatment of idiopathic central precocious puberty (ICPP) for several decades. Their effectiveness on adult height (AH) improvement has been widely studied and is still debated.Objective and hypotheses: To assess whether BMI changes in ICPP girls during GnRHa treatment can influence AH.Method: A retrospective study of 131 ICPP girls (mean age at diagnosis: 7.6±0.7, range 4.3&#...

Introduction: Osteogenesis imperfecta (OI), is a genetically heterogeneous connective tissue disorder associated with skeletal fragility, deformity, and growth deficiency. Intravenous bisphosphonate therapy is the mainstay of medical treatment of this condition. Given the paucity of data from Asia we sought to evaluate the genetic epidemiology and the response to pamidronate therapy in a cohort of Malaysian patients.Method: Genetic analysis was performed...

Background: The ACTION Teens study aimed to identify attitudes, behaviours and perceptions among adolescents living with obesity (ALwO), caregivers of ALwO (CGs) and healthcare professionals (HCPs) who treat ALwO. This subanalysis assessed the mental well-being and self-esteem of ALwO.Methods: ACTION Teens was a global, cross-sectional study (NCT05013359) that surveyed 5275 ALwO (aged 12–<18 years), 5389 CGs and...