ESPE Abstracts

Background: Fertility Preservation (FP) in children and adolescents poses unique challenges as efficacy is unproven.Objective and hypotheses: To describe characteristics and evidence for potential fertility in ovarian and testicular tissue cryopreservation specimens (OTCP and TTCP respectively) taken from paediatric and adolescent patients, stratified by age, and prior chemotherapy.Method: Retrospective review of gonadal biopsies a...

Background: Fifteen years ago children born very preterm (<32 weeks of gestation) were reported to be insulin resistant. Neonatal intensive care has since improved considerably, but it is unclear whether this has affected long-term outcomes in those born preterm. Abnormalities in gut microbiome, which influence host metabolism, have been found in preterm newborns.Objective and hypotheses: We aimed to assess whether children born very preterm still ha...

Backround: Menstrual disorders are common among the adolescent girls. We examined the initial investigations performed in adolescents, presenting with frequent, heavy or painful periods. Although, usually abnormal uterine bleeding (AUB) in adolescent women is attributable to immaturity of the hypothalamic-pituitary-ovarian axis, underlying conditions such as coagulation disorders and anemia should always kept in mind. However, neither the laboratory nor the ultrasound investig...

Gonadotropin-releasing hormone (GnRH) is the master hormone regulating the reproductive axis and its pulsatile secretion is crucial for puberty onset and fertility. Disruption in GnRH neuron development or hypothalamic function can lead to absent or delayed puberty (DP) due to GnRH deficiency, with a phenotypic spectrum from severe delayed puberty to partial or complete Hypogonadotropic Hypogonadism (HH). HH can also be present as a shared trait with other neurodevelopmental d...

Background: MicroRNAs (miRNAs) are short non-coding RNAs that repress target gene expression via post-transcriptional mechanisms.Objective and hypotheses: To study the expression of miRNA-25, miRNA-216, miRNA-21, miRNA-93, miRNA-377 in a sample of 100 type 1 diabetic patients with and without microalbuminuria to probe their role in development of diabetic nephropathy.Methods: Hundred type 1 diabetic patients, 50 with microalbuminur...

Background: We present a 17-year-old female who presented with a 1 year history of hirsutism, male pattern baldness, marked cystic acne and mild cliteromegaly. She had her menarche at the age of 15 years and continued thereon to have a regular menstrual cycle. She was pubertal on examination (B3, P5, A5) with no neurological deficit.Objective and hypotheses: This female presented with marked clinical hyperandrogenism. We initially suspected polycystic ov...

Introduction: Packed red blood cell (PRBC) transfusions are an essential component of leukemia treatment regimens. Transfusion-induced iron overload can be seen after approximately 10 to 20 transfusions. Very little is known about transfusion-related iron burden in oncology populations and its possible effect on endocrine function and glycemia.Patients and methods: We evaluated growth parameters and endocrine disorders in relation to the iron overload st...

Background: Fetal skeleton develops early in the fetal period. The appendicular and the axial skeleton undergo a programmed pattern of endochondral ossification, whereas the calvarium and portions of the clavicle and pubic bone ossify via membranous ossification. Disruption of the molecular mechanisms fine-tuning this process leads to osteo-chondrodysplasias (skeletal dysplasias) or dysostoses, namely genetic skeletal disorders. The 2015 revision of the Nosology and Classifica...

Background: Normal thyroid function is necessary for the optimal growth promoting effects of GH. Changes in the hypothalamic-pituitary-thyroid (HPT) axis following GH have been reported in subjects initially thought to be euthyroid. A specific group of patients, children with Prader-Willi syndrome (PWS), are thought to have a ‘vulnerable’ HPT axis.Objective and hypotheses: To evaluate the impact of paediatric GH therapy on thyroid hormone statu...

Introduction: Congenital hyperinsulinism (CHI) is a disorder of pancreatic beta-cells characterized by inappropriate secretion of insulin leading to hyperinsulinemic hypoglycemia. Insulin secretion is a complex, genetically regulated process. Mutations in several genes known to regulate insulin secretion result in CHI. Recently, non-coding mutations in HK1, which cause the aberrant expression of hexokinase 1 (HK1) in beta cells, have been reported as a novel c...