ESPE Abstracts

The transient activation of the hypothalamus-pituitary-gonadal (HPG) axis shortly after birth has been described as early as in the 70ies. This discovery has since been applied clinically as a ‘window of opportunity’ for diagnostic evaluation of patients suspected of endocrine disorders and differences of sex development. With the advent of increasingly more sensitive and specific analytical methods for peptide and steroid hormones produced in the pituitary, gonads...

Background: The definition of Cushing disease (CD) is hypercortisolism caused by excess adrenocorticotropic hormone (ACTH) secretion by a pituitary corticotrope adenoma. It is extremely rare in the pediatric population and requires rapid diagnosis and early management.Case presentation: A 14-year old boy was hospitalized because of sudden onset of chest pain, loss of consciousness, elevated cardio-specific enzymes, and s...

Background: GH treatment is proven to increase adult final height in some pathology and first year response is assumed as an index of treatment’s effectiveness.Objective and hypotheses: Identify the prevalence of each indication in children treated with GH in our hospital and evaluate the first year response to treatment.Method: We retrospectively analysed the files of 30 patients followed for short stature and on GH treatment...

Aim: Increased clinical attention toward less severe cases of congenital adrenal hyperplasia (CAH) may affect both incidence and prevalence. In this nationwide population-based cohort study, we estimate incidence, prevalence, and age at diagnosis of CAH according to subtype and sex.Patients and Methods: Individuals registered with a diagnosis of CAH during 1977 to 2018 were identified in the Danish National Patient Regis...

Background: Klinefelter Syndrome (KS) is the most common chromosomal anomaly in males associated with infertility. Advances in assisted reproductive medicine have made conception possible for some men with KS, with increasing scientific interest gathered around semen cryopreservation and testicular biopsy for sperm extraction (TESE).Objectives: This project aims to examine the current practice in a paediatric tertiary ho...

Introduction: The human fecal microbiota is known to shift in composition during adolescence, but whether fecal microbiota is associated with timing of sexual maturation is unknown. In mice, the change in the composition of fecal microbiota during puberty appears to be sex-specific and associate with changes in testosterone. We investigated the association between intestinal microbiota and pubertal timing in adolescents.Subjects ...

Introduction: Pediatric obesity is an important public health problem. Exogenous obesity represents most cases; in some children, obesity is attributable to endocrine or genetic disorders. Genetic etiology should be considered in children with dysmorphic features, global developmental delay, early onset severe obesity (before 5 years), hyperphagia or severe obesity family history. Regardless of the etiology, treatment must begin with long-term lifestyle change...

Introduction: Congenital Adrenal Hyperplasia (CAH) is a group of genetic diseases characterized by impaired cortisol synthesis. 95% of CAH cases result from mutation in the CYP21A2 gene encoding 21-hydroxilase. TNX-B gene partially overlaps CYP21A2 and encodes a matrix protein called Tenascin-X (TNX). Complete tenascin deficiency causes Enlers-Danlos syndrome (EDS). A variant called CAH-X, has recently been described, resulting from CYP21...

Introduction: CHARGE syndrome is a rare constellation of congenital malformations caused by mutations in CHD7 gene. The acronym stands for coloboma, heart defect, choanal atresia, retarded growth and development, genital hypoplasia, ear abnormalities, and/or hearing loss. Endocrine disorders associated with this syndrome include hypogonadotropic hypogonadism, ...

Background: The development of fetal thyroid gland and its function in fetus and newborn are influenced by maternal iodine supplementation and maternal disorders of thyroid gland. Pregnant and lactating women are considered a risk group, although the Czech Republic ranks among countries with sufficient iodine supply. In case of maternal iodine deficiency, fetus is more susceptible to other factors influencing fetal thyroid gland development and function and also its neurologic...