ESPE Abstracts

Background: The variation in uptake of daily sc GH-injections is hardly known.Objective and hypotheses: There is a considerable variability in uptake of s.c. GH-injections both within and between children.Method: 65 children used (Genotropin® pen 4/16, needle 12 mm), dose 0.08–0.14 mU/kg per day within trials: TRN 87–010; 88–080; 88–177; followed yearly two–eight times 1992–1999 (n=214). ...

Background: Diamond–Blackfan anemia (DBA) is an inherited bone marrow failure syndrome, which presents with anemia in early infancy. Survival depends on blood transfusions, which in consequence lead to iron overload (IOL). The most common complications of IOL are hepatic cirrhosis, endocrinopathies and cardiomyopathy.Results: We present the case of 17 years old girl with DBA and IOL-associated endocrinopathies. Her treatment consists of multiple blo...

Introduction: As successful rates of haematopoietic stem cell transplantation (HSCT) are on the rise, late endocrine and metabolic effects of these survivors have become more prevalent.Aims: We aimed to characterise the endocrine abnormalities observed following HSCT.Subjects and methods: A retrospective descriptive study in paediatric post-HSCT patients (< 18 years-old) follow...

Background: Van Wyk-Grumbach syndrome (VWGS) is a rare diagnosis that should be suspected in children with signs of peripheral precocious puberty and hypothyroidism. It is characterized by multicystic enlarged ovaries, in the presence of long-term severe hypothyroidism. Treatment of VWGS consists of hormonal replacement with levothyroxine. Usually, ovarian cysts and increased ovarian volume subside within an average of 2 months but can persist up to 12 months after treatment.<...

Introduction: Hydrocortisone (HC) has a short half-life and individualization of treatment is required for optimal treatment of CAH, balancing between under- and overtreatment. Twenty four hour profiling of HC concentrations has shown large interindividual variation in clearance of HC and therefore has been used to individualize treatment. We present a severely virialized girl with CAH, in whom high doses of steroids failed to suppress androgen production thou...

Background: Heterozygous inactivating mutations in the calcium sensing receptor (CaSR) gene cause mild hypercalcemia, normal to slightly elevated parathormone (PTH) levels and may vary from an asymptomatic clinical picture to a mild course. This clinical picture is also called familial hypercalcemic hypocalciuria. In this study, it is aimed to present two sibling cases due to CaSR mutation with interesting features.Case...

Background: Glucose monitoring is vital in children with persistent hypoglycaemia to reduce the risk of adverse neuro-behavioural outcomes1. Continuous glucose monitoring (CGM) systems provide real-time glucose levels however; information on its usefulness in monitoring glucose levels in this cohort is limited2, 3.Objective: To ascertain the effectiveness of CGM and to evaluate parents’ experie...

Introduction: Fanconi anemia (FA) is a rare genetic disease that presents with aplastic anemia. Around 60% have short stature (SST), with a mean height of -2.2 SD. However, studies assessing the etiology of SST not having reached relevant conclusions.Aim: Our aim was to evaluate the clinical features and endocrine status in relationship to SST in patients with FA.Methods and Patients: A cross-secti...

Introduction: Neonatal hypoglycemia (NH) affects about 15% of all neonates and about 50% of neonates born with risk factors, including maternal diabetes, large- or small for gestational age, or prematurity. Although it is known that hypoglycemia in congenital hyperinsulinism can lead to brain injury, it is still not clear to what extent transitional NH is tolerated during the first days of life without brain damage. Thus, treatment thresholds and management st...

Objectives: The aim of this study was to report on the frequency and describe the clinical characteristics of the ones diagnosed as thyroid cancer among all suspicious nodules diagnosed in the pediatric endocrinology department and to compare the findings with recent published literature.Methods: Retrospective study during the last 5 years. Patients aged <18 years, with suspected thyroid nodule malignancy, according t...