ESPE Abstracts

Objective: The influence of androgens and estrogens on growth is complex, and understanding their relative roles is important for optimizing the treatment of children with various disorders of growth and puberty.Design: We examined the proportional roles of androgens and estrogens in the regulation of pubertal growth in boys with constitutional delay of growth and puberty (CDGP). The study compared 6-month low-dose intramuscular testoste...

Non-classic form of congenital adrenal hyperplasia due to 21-hydroxylase deficiency is the most common disorder, which is associated with the use of hydrocortisone. Clinically patients present the GnRH-independent precocious puberty with rapid growth and advanced bone age. Inappropriate inhibition of androgen secretion can induce precocious central puberty. We present the case of 9-year-old girl, who was treated of the congenital adrenal hyperplasia due to 21- hydroxylase defi...

Introduction: Shear wave elastography (SWE) is an ultrasound diagnostic method used to measure tissue stiffness. Since the mechanical properties of tissue involved in the pathological process are changed, SWE might indicate regions of the examined tissue covered by the disease. It is well documented, that SWE helps differentiate benign and malignant nodules in thyroid gland in adults, however there are still few studies on application of SWE in thyroid diagnos...

Background: There is limited knowledge about the natural history of growth in patients with congenital hyperinsulinism (CHI). The disease itself, as well as its treatment methods with common long-term sequalae in terms of pancreatic endocrine and exocrine dysfunction have the potential to affect growth. We investigated longitudinal height growth of CHI patients in a large Finnish cohort.Materials and methods: In this cro...

Background: Partial gonadal dysgenesis with a 46,XY karyotype (46,XY PGD) is a disorder of sex development (DSD) associated with abnormal development of the gonads. It is characterized by abnormally developed external genitalia with or without Mullerian structures. The degree of abnormality varies from a female phenotype with clitoral hyperplasia to a male phenotype with isolated hypospadias. The incidence is unknown. In 20-30% of patients, gonadoblastoma or i...

Aim of the study: The aim of this nationwide population-based register study was to investigate the incidence of congenital malformations, neonatal and chronic comorbidities, and the use of prescribed drugs in patients with primary congenital hypothyroidism (CH).Methods: The study cohort and matched controls were identified from national population-based registers in Finland (The Social Insurance Institution of Finland a...

Introduction: Thyroid nodules occur in 1.8% children which is not so often in comparison to adults (19–68%), but in children they appear to be at higher risk of malignancy (22–26% vs.5–10% respectively). It has been shown that the probability of thyroid nodules malignancy correlates with the presence of characteristic ultrasonographic features. Elastography - the noninvasive ultrasound imaging technique based on estimation of the tissue flexi...

Context: Major advances have been made in the genetics and classification of congenital hyperinsulinism (CHI; OMIM #256450).Objective: To examine the molecular and clinical characteristics of the Finnish patients with persistent and transient CHI.Design: A cross-sectional study with the register data and targeted sequencing of 104 genes affecting glucose metabolism.<p class="ab...

The most common hyperthyroidism in children is Graves' disease. The other rare cause of hyperthyroidism is activating mutation in receptor TSHR in thyroid gland.We would like to introduce a case of familial hyperthyroidism with a novel mutation M453V in the TSHR in three membersActually 11-year-old boy is a patient in outpatient clinic for first days after birth. During gestation his mother was treated with thyreostatic drugs b...

Introduction: Elastography is a noninvasive imaging technique based on estimation of the tissue flexibility. There are two methods of elastography: Static Elastography and Shear Wave Elastography. Scale of deformation under pressure is presented as a colourful map – elastogram, where red colour signify soft tissues, green colour signify middle tough tissues and blue colour signify tough tissues. Analysis of elastograms enable us to present results as ROI1/ROI2 index. In a...