ESPE Abstracts

Background: Turner Syndrome (TS) is associated with short stature and skeletal disproportion. The impact of treatment with recombinant human growth hormone (rhGH) and oestrogen therapy on body proportions is unclear.Objectives: To evaluate sitting height (SH) and leg length (LL) in TS before growth promoting therapies and at adult height.Method: Retrospective study of height (Ht), SH and LL standard deviation score (SDS) in TS. Bod...

Background: The assessment of bone age increments is important when monitoring treatment in many conditions in pediatric endocrinology. However, manual rating suffers from significant rater variability. Automated bone age assessment could provide increased precision, and also assess increments of bone health index (BHI) from the same X-rays.Objective and hypotheses: To assess the precision of automated assessment of increments of bone age and BHI.<p ...

Background: The incidence of osteogenesis imperfecta (OI) worldwide is unknown. In the USA, the incidence is ~1/20 000 live births: for Indonesia (population 240 million) this should extrapolate to 12 000 OI patients rather than the 35 patients currently registered with the Indonesian Pediatrics Society (IPS), Faculty of Medicine, University of Indonesia-Cipto Mangunkusumo Hospital (RSCM). This enormous disconnect signifies many missed diagnoses, mortality or both.<p class...

Background: Individuals with androgen insensitivity syndrome (AIS) have an increased risk for developing a germ cell cancer (GCC). The risk is low during childhood; therefore, gonads are commonly preserved until after puberty. Little is known about GCC development in AIS during adulthood. This question is particularly relevant as many adult AIS women decline gonadectomy.Objective and hypotheses: To gain insight in attitudes towards gonadectomy in various...

Background: Severe obesity due to hypothalamic involvement has major impact on prognosis in long-term survivors of childhood-onset craniopharyngioma. The long-term effects of rehabilitation efforts on weight development and obesity in these patients are not analysed up to now.Method: 108 patients with childhood-onset craniopharyngioma recruited in HIT Endo before 2001 were included in the study. Long-term weight development (BMI SDS after ...

Background: As a result of hypothalamic involvement and/or treatment-related hypothalamic damage, up to 75% of childhood craniopharyngioma patients develop hypothalamic obesity.outcome is important for optimization of treatment.Method: Eating behaviour was analysed in 101 survivors of childhood craniopharyngioma, recruited from 1980 to 2001 in the HIT-Endo multicentre study, and in 85 BMI-matched healthy controls using the Inventory for eating behavior a...

Background: Glucocorticoids are one of the most widely used drugs in clinical practice. Inappropriate use can result in secondary adrenal insufficiency. Adrenal insufficiency can be an occult cause of hypercalcaemia.Case presentation: A 3-months-old boy admitted for puffiness of the face, increase in weight. It was revealed that the patient was admitted to a hospital 2 months ago and was diagnosed to have congenital cataract and operated. The patient was...

Background: Hypothalamic obesity caused by childhood–onset craniopharyngioma results in long–term cardiovascular morbidity. Knowledge about clinical markers and risk factors for cardiovascular morbidity is scarce.Patients and Methods: A cross–sectional study on transthoracic echocardiographic parameters was performed to determine the associations with clinical and anthropometric parameters in 36 craniopharyngioma patients....

Introduction: Β-thalassemia is a hereditary chronic hemolytic anemia characterized by a defect in the synthesis of beta-globin chains, particularly common in the Mediterranean region, southern Asia, and the Middle East Transfusion programs and chelation therapy have greatly extended the life expectancy of patients. This has led to an increase in the prevalence of endocrine complications, linked to iron overload The hypothyroidism is one of the most commonly reported comp...

11 Beta Hydroxylase Deficiency and Gittelman Syndrome are two rare autosomal recessive diseases. Our patient, whose brother had 11 beta Hydroxylase Deficiency, was diagnosed at the antenatal period. We detected hypomagnesemia, hypokalemia, hypocalciuria and metabolic alkalosis at the age of 3 years and 8 months, after vomiting and diarrhea. In our patient, a homozygous mutation was detected in the SLC12A3 gene at the c.1049C>T (p. Ser350Leu) (rs7785585043) location. There i...