ESPE Abstracts

Background: Anorexia nervosa (AN) is associated with a number of endocrine abnormalities including a low serum free thyroxine level. Hypothyroidism in AN is a recognised condition which is associated with a low normal free thyroxine and triiodothyronine levels (FT4, FT3) with an elevated reverse T3 (rT3). Serum TSH levels are normal or slightly reduced, suggesting a hypothalamic origin to the suppressed thyroid function which is norm...

Introduction: Type 1 Arnold Chiari syndrome (extension of cerebellar tonsils into the foramen magnum without involving the brain stem) causes ataxia, dysphagia, headache, breathing problems… So far, an association between Arnold Chiari and autoimmune diseases has not yet been described in literature.Case 1 description: M.V., on term third born, spontaneous delivery, non complicated pregnancy, normal physical and psychological development stages. He...

Background: APS type 1 is characterized by an autosomal recessive inheritance. The clinical diagnosis is based on the presence of at least two of the three following diagnostic criteria: chronic mucocutaneous candidiasis, chronic hypoparathyroidism, and autoimmune adrenal insufficiency. Patients often develop other autoimmune diseases. APS type 1 is caused by mutations in the AIRE gene which encodes the AIRE protein. The protein probably acts as a transcription factor.<p c...

Background: Diabetes insipidus of central origin has been described in association with other endocrine autoimmune diseases as a rare condition in adults. In children this association is extremely rare.Objective and hypotheses: To present a girl with a concurrent appearance of diabetes insipidus and autoimmune thyroiditis.Method: Diagnostic approach for both diseases.Results: A girl of 11 years presented with...

Background: Involvement of multiple spesific endocrine organs in systemic lupus erythematosus (SLE), as initial manifestations, are quite rare. These manifestations can appear singly or combined. But they have been usually reported singly. We report a child case who coexists many of rare clinical features of SLE at the same time at onset.Objective and hypotheses: Polyglanduler autoimmune syndrome may be a part of SLE. Coexistence of many polyglanduler au...

Background: Patients who have received an hematopoietic stem cell transplantation (HSCT) have more risk of endocrine complications (hypothyroidism, hypogonadism, and growth retardation) but the incidence of diabetes after HSCT is not as well known. The pathogenesis of the diabetes is not well established, and is believed to be multifactorial: chemotherapy, pancreatic irradiation, inflammatory cascade and cytokines, steroids and predisposing genetic factors.<p class="abstex...

Background: Ovarian function in young females with cancer can be damaged due to chemo-radiotherapy. One option to preserve fertility in these patients is the cryopreservation of ovarian tissue, but this is still experimental.Objective and hypotheses: Evaluate our experience with cryopreservation (indications, complications, and reimplantation). Through surveys, understand patient perspectives.Method: A total of 63 women were diagno...

Background: Pediatric bone marrow transplantation (BMT) can lead to endocrine dysfunctions due to common pre-operative regimens involving chemo and radiotherapy.Objective and hypotheses: To evaluate the prevalence an time-of-onset of endocrine dysfunctions after BMT in children and adolescents.Method: A retrospective cohort-study design was performed. The inclusion criteria were: <18 years of age at the time of their allogenic ...

Background: The annual worldwide incidence of childhood adrenocortical tumors (ACT) ranges from 0.3 to 0.38/million children below the age of 15 years. Only 1–2% of them are feminizing ACT occurring in prepubertal boys and presenting with gynecomastia that normalizes after tumor removal.Case report: We present a case of a feminizing ACT. The boy was referred for bilateral gynecomastia, appeared 6 months before, at the chronological age (CA) of 7.5 y...

Background: Carney complex (CC) is a rare, dominantly inherited condition due to mutations of the tumour suppressor gene PRKAR1A. Endocrine manifestations include: Cushing’s syndrome (CS) due to primary pigmented nodular adrenocortical disease, pituitary adenomas, testicular neoplasms, thyroid tumours, and ovarian cysts. The management of some of these tumours is controversial.Objective and hypotheses: To describe conservative management of CC.<...

Background: Whilst thyroid carcinoma is rare in children, thyroid nodules in children have an increased risk of being malignant. Two 10-year-old patients with thyroid nodules presented to the Royal Belfast Hospital for Sick Children in December 2013.Objective and hypotheses: Illustration of sporadic and genetic presentations of thyroid carcinoma in children.Method: Presentation of two cases of thyroid carcinoma in children.<p c...

Background: Recent studies had been demonstrated that raised height could be related with Hodgkin lymphoma (HL). In addition, increased osteo–sarcorma had been indicated in taller individuals and those with earlier pubertal growth spurts. however, some investigators obtained no significant relation between elevated height and childhood malignancy.Objective and hypotheses: We aimed to investigate whether there is any correlation between height and pe...

Background: Carney complex (CNC) is a rare multi endocrine neoplasia syndrome associated with endocrine and non-endocrine tumours. Three types of testicular tumour have been described; large cell calcifying Sertoli tumours (LCCST), Leydig cell tumours and testicular tumours of adrenal origin. LCCST is a rare benign stromal tumour, which has been observed in 41% of males affected with CNC, usually appearing in the first decade of life. It can be hormonally active, presenting wi...

Background: Obesity has been defined as ‘abnormal or excessive fat accumulation that may impair health’ by World Health Organization.Objective and hypotheses: Although the role of oxidative stress in obesity has been interest of subject in recent studies, comprehensive studies evaluating parameters of oxidant/antioxidant status in children are limited. Moreover, there has been an increasing focus on the relationship between obesity and thyroid ...