ESPE Abstracts

Wolcott-Rallison syndrome (WRS) is a rare autosomal recessive disease characterised by neonatal/earlier-onset non-immune insulin –requiring diabetes associated with skeletal dysplasia and growth retardation. WRS is caused by mutations in the gene encoding eukaryoutic translation initiation factor 2 a kinase (EIF2AK3), which plays a key role in translation control during the unfolded protein response. In the endocrinological department of Ternopil Childrens’ Hospital ...

Background: We present a 3 years old boy born on term from young non-consanguineous parents with negative family history. Shortly after birth swelling of the feet and multiple generalised erythematous cutaneous plaques and nodules gradually appeared. Recurrent fever attacks, hepatosplenomegaly, significant growth delay (height – 4.0 S.D.) and progressive loss of subcutaneus fat tissue followed.Objective and hypotheses: Laboratory inve...

Background: Septo-optic dysplasia (SOD) is a rare, congenital condition that mostly occurs sporadically, but can also be caused by mutations in HESX1, OTX2, SOX2, SOX3 genes. Symptoms of SOD include: optic nerve hypoplasia, hypopituitarism and midline brain abnormalities such as absence of septum pellucidum and/or corpus callosum. Hypopituitarism in SOD usually manifests as growth hormone deficiency followed by central hypothyroidism as well as deficiency of gonadotropines. Pr...

Background: Prader–willi syndrome (PWS) is characterized by decreased fetal activity, obesity, muscular hypotonia, MR, short stature, hypogonadism and small hands and feet. Little information is available concerning PWS and kidney involvement.Objective and hypotheses: We report two patients with PWS and congenital abnormalities of kidney and urinary tract (CAKUT).Method: First case: male, born at 35 weeks with caesarian sectio...

Background: Exercise performance is dependent on glucose supply as fuel to working muscles.Objective and hypotheses: We hypothesised that postprandial insulin secretion impacts exercise induced glucose and insulin response.Method: 27 sedentary obese adolescent males aged 15.31+1.33 were examined. Standard 2 h oral glucose tolerance test (OGTT) with further calculation AUC for glucose and insulin for increments: 0–30 m...

Background: Disorders of sex development, especially with Y chromosome material, are the main factor of an increased risk of gonadal tumour. The main idea of this study was to investigate the prevalence of gonad tumours in patients with 46,XY gonadal dysgenesis.Methods: This study included 9 patients with 46,XY gonadal dysgenesis: seven patients with partial and two with total gonadal dysgenesis. Among nine patients there were two patients with Frasier s...

Introduction: Childhood craniopharyngioma (cCP) has excellent survival, but quality of life may be severely hampered by hypothalamic dysfunction. We aimed to evaluate treatment and hypothalamic outcomes of a Dutch cCP cohort, and evaluate the effect of centralization of care.Methods: A retrospective cohort study was performed, including cCP patients diagnosed between 2004-2021. Treatment characteristics and hypothalamic ...

A 8 years and 7 months old male presented with short stature related to his target height. No history of bones fractures. The patient was 120.7 cm (- 1.77 SDS). Physical exam demonstrated peculiar facies, relative macrocephaly, delayed tooth eruption and pectus carinatum. He referred during the clinical evaluation diffuse bone pain and weakness, mostly exacerbated by sport activity. A first diagnostic investigation had already been made showing low serum alkaline phosphatase a...

During the pandemic, an increase in the cases of premature thelarche consultations was observed. Our group published a series in 2021 of 75 cases. This effect could have been caused by an increase in body fat mass in girls, suggesting a “trigger effect” in the activation of the gonadal axis, causing an increase in the number of cases of early puberty (SEEP Oviedo 2022). AMH has been correlated as a predictor of the moment of menarche (doi: 10.1515/jpem-2014-0521)</...

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...