ESPE Abstracts

Introduction: Floating-Harbor syndrome is a rare autosomal dominant genetic disorder caused by mutations in SRCAP gene. This condition is characterized by dysmorphic facial features, short stature and expressive language delay. Here we present a clinical case of a child with Floating-Harbor syndrome.Clinical case: A girl to consanguineous healthy parents was born at 37 gestation weeks with height 47 cm (SDS=-0,46) and weight 224...

Background: Insulinomas are very rare in childhood with sparse knowledge on the clinical aspects and the presence of Multiple Endocrine Neoplasia type 1 (MEN1).Methods: We conducted a multicentre retrospective review of patients diagnosed with insulinoma between 1995-2021. Clinical, biochemical, genetic, imaging and histological data were collected. In addition, follow-up and family data were obtained.<p class="abste...

Background: 18p- syndrome is very rare (1:50000 live-born infants). Hypopituitarism as part of the syndrome is found in 13% of cases. Here we present a case of congenital hypopituitarism in a girl with 18p- syndrome.Objective and hypotheses: Description of a rare clinical case of congenital hypopituitarism as a feature of 18p- syndrome.Method: Hormonal and biochemical blood tests, MRI, karyotyping, echocardiogram, specialists’...

Background: Congenital goitre presenting in the newborn period is very rare. Here we present a case of congenital hypothyroidism with a large goitre, leading to trachea compression symptoms. Hormone replacement therapy was started leading to normal levels of TSH, FT4, and thyroid volume. In face of maternal normal thyroid levels, dyshormonogenesis considered to be the most probable cause of hypothyroidism.Case presentation: A male full term ne...

Background: Congenital hyperinsulinism (CHI) is a heterogeneous group of disorders, characterized by hypoglycemia due to inappropriate insulin secretion. Despite huge progress in understanding the pathophysiology of CHI, its etiology remains unknown in about 30% of cases.Aim: To perform whole-exome sequencing in patients with CHI.Results: A total of 314 patients with congenital hyp...

Congenital adrenal hyperplasia (CAH) is lethal in its most severe forms if not treated with glucocorticoids. However, glucocorticoids may increase the cardiovascular and metabolic morbidity. The long term outcome in CAH was studied using the Swedish national CAH registry, 588 patients 335 females and 253 males, >80% with known severity of CAH; were compared with 100 controls per patient matched for sex, and year and place of birth. Information on mortalty, cause of death, ...

Introduction: Disorders of sex development (DSD) describes conditions affecting gonadal and adrenal function and therefore to large extent affect fertility. In some cases the gonads have been removed due to risk of malignancy. Information to the patients about their fertility and treatment options have not been optimal in the past.Objective: To describe fertility outcome in the different diagnostic groups of DSD and to assess to what extent assisted repr...

Objective(s): Type 1 Diabetes Mellitus (T1DM) is associated with poor bone health. It is shown that the increased fracture risk in T1DM is multifactorial. The aim of current study is to determine the body weight correlation with bone mineral density (BMD) in type 1 diabetic non-obese patients.Materials and Methods: To evaluate the factors associated with bone mineral density in type 1 diabetic patients a total of 45 pati...

Background: The recent evidence has shown that the skeleton can in turn affect carbohydrate metabolism.Objective and hypotheses: To analyse associations between serum level of sclerostin and as well other bone-related molecules as adipokines and some markers of glucose and lipid metabolism in children and adolescents.Method: 57 patients, 40 with type 1 diabetes mellitus (T1DM), 17 with obesity, and 11 control, healthy age- and BMI-...

Background: Serum bone turnover markers may serve as parameters for predicting the growth response to growth hormone (rhGH) treatment.Objective and hypotheses: Assessment of the alkaline phosphatase (ALP) value in early prediction of the effects of rhGH treatment in children with growth hormone deficiency.Method: The study group consisted of 50 children with GHD. ALP, bone-ALP, vitamin D and I...