ESPE Abstracts

Background: McCune–Albright syndrome (MAS) is defined by skin, bone and glands disorders, due to activating mutations in the GNAS1. Clinical presentation is heterogeneous. Reports about GH excess in MAS patients are scarce.Case report: We present the case of an 8-year-old male, previously diagnosed with mono-ostotic fibrous dysplasia of the skull, referred due to signs of pubertal development since the age of 6. The patient presented only 1...

Background: Van Wyk–Grumbach syndrome (VWGS) is characterized by breast development, uterine bleeding and multi-cystic ovaries in the presence of long-lasting primary hypothyroidism.Objective and hypotheses: The pathophysiology of VWGS involves a complex mechanism, which is at least partly mediated by the direct action of TSH and FSH receptors.Method: We present a girl with Down syndrome having typical feature...

Introduction: In India, newborn screening (NBS) for congenital hypothyroidism (CH) is not yet a national government policy. Preliminary information suggests neonatal TSH levels to be higher in expatriate Indian babies than those in European populations in developed countries.Objectives: To evaluate maternal urinary iodine and cord blood TSH in a subset of women participating in a postnatal NBS program for CH.Methods: Cord blood (CB...

Background: Prolactinomas are relatively rare during childhood, with an incidence of 0.1 per million. Children with hyperprolactinaemia have widely varied presentations depending on age, sex, and tumour size. Whilst adults typically present with galactorrhoea or hypogonadism, children tend to present with pubertal delay and growth issues.Objective and hypotheses: Poorer surgical outcomes have been reported in children with macroprolactinomas compared to ...

Background: In recent years, studies have consistently demonstrated higher TSH concentrations in overweight/obese children and adults compared with normal weight individuals, whereas the levels of thyroid hormones in peripheral blood remain within normal range. This euthyroid hyperthyrotropinemia on the background of a worldwide increase in childhood obesity raises the question of whether subjects with this elevated TSH should be treated.Objective and hy...

Background: Anorexia nervosa is usually associated with lower levels of thyroid hormones especially suppressed TSH and T3 with normal T4 levels due to the effects of starvation on metabolism. We present two cases where the underlying eating disorder masked the thyroid dysfunction.Patient 1: 15-year-old girl with anorexia nervosa and BMI of 15.6 was noted to have suppressed TSH<0.1 mU/l, high normal T3–7.0 pmol/l ...

Background: Brain-lung-thyroid syndrome (BLTS, OMIM# 610978) is caused by mutations in the NK2 homeobox 2 (NKX2-1; TTF1) gene affecting the three NKX2-1 expressing organs brain, lung and thyroid. The syndrome is characterized by benign hereditary chorea (BHC), infant respiratory distress syndrome (IRDS) and congenital hypothyroidism (CH). However, the clinical spectrum and severity of symptoms vary widely. Regarding the increasing number of published mutations and het...

Background: Autoimmune polyendocrine syndrome (APS) type 1 is a rare autosomal recessive disease. The classic features are chronic mucocutaneous candidiasis, hypoparathyroidism and adrenocortical failure. Several non-classic presentations of the disease has been described over the last few years. Authors present a case of 14-year old girl with a new serious non-classic presentation.Case presentation: Patient was diagnosed with a mucocutaneous candidiasis...

Background: The pituitary set-point for TSH synthesis and secretion is known to be an individual parameter with a strong genetic influence. Type II iodothyronine deiodinase is a pituitary enzyme involved in local deiodination of T4 and negative feed-back loop for TSH secretion. Defects in DIO2 have not been reported in humans; however, Dio2 knockout mouse has pituitary resistance to T4 with elevated TSH, T4 and TSH/T4 ratio, with nor...

Background: Gonadal function is altered up to 25% in patients who suffered cancer in childhood. Cryopreservation of ovarian tissue (COT) is an option for preserving fertility.Aims and objective: To establish the prevalence of primary hypogonadism (PH) in children with cancer after hematopoietic cell transplantation (HCT). To analyse the variables that predict progression to PH.Methods: Retrospective cohort study. Patients aged 0 to...