ESPE Abstracts

Rendu-Osler-Weber syndrome (also called Hereditary Haemorrhagic Teleangiectasia) is an autosomal dominant disorder that results from multisystem vascular dysplasia. HHT syndrome has been described in association with autoimmune disorders, such as Hashimoto thyroiditis, lupus erythematosus, vitiligo, anti-phospholipidic syndrome and pernicious anaemia.We present the case of a 6 year old girl with Rendu-Osler-Weber syndrome who was referred for endocrinolo...

Background: Children’s exposure to stress predicts poor health. Poor growth and maturation are recognized indicators of poor health.Objective and hypotheses: SE correlates with height, BMI and menarche. We correlated seven indicators of SE with countries’ average adult height, BMI and menarche age.Method: Data for 57 countries of average men and women’s height, BMI and menarche age were collected from WHO report. The...

Background: We have previously shown that bone age (BA) assessment by SonicBone BAUSTM, measuring the speed of sound (SOS) of US waves propagating along measured bone, is reproducible and comparable to both GP and TW3 x-ray assessment of BA. This provides a safe and irradiation-free method to the assessment of BA in healthy children.Objective and hypothesis: We aimed to understand the dependency of BA on a child’s height and BMI using son...

Background: Congenital generalized lipodystrophy is a rare and serious genetic disorder that has a profound impact on the quality of life of individuals. The worldwide prevalence of disease is estimated at 1 in 12 million people. It causes significant metabolic abnormalities and may reduce the life expectancy of children and young adults due to the late diagnosis and absence of adequate treatment. Below, we report the case of an 8-year-old boy with Berardinell...

Background/Aim: Parents wanting to predict adult height (AH) often resort to the old practice of doubling a boy’s height at age 2 years or a girl’s height at 18 months. We coined this the ’Grandma prediction’ (GMP1). It provides predictions with mean absolute error (MAE) 5.9 and 5.2, standard deviations of residuals (sdRES) 4.1 and 3.6, and Pearson correlation r=0.68 and 0.67 for boys and girls, respectively. The recent sophist...

Background:Calcium-sensing receptors (CaSR) located on parathyroid glands and kidneys act to regulate serum calcium levels. Inherited hypocalciuric hypercalcaemia and autosomal dominant hypercalciuric hypocalcaemia are due to inactivating and activating CaSR mutations respectively. We present the immediate and medium term postoperative clinical course of the first paediatric patient with hypercalciuric hypocalcaemia managed with a simultaneous parathyroid and ...

Background/Aim: The trade-off theory claims that a resource (calorie) stored in adipose tissue cannot be used for longitudinal growth, and a calorie used for growth will not be stored as fat.Methods: Out of 2339 children with longitudinal heights and weights (birth to adulthood) from the GrowUp1990 Gothenburg cohort, 1993 (996 girls) were analyzed. For everyone we calculated Energy Trade-Off Score: ETOS = at early adulth...

Introduction: Granulosa cell tumors (GSTs) of ovary are very rare, usually large gonadic neoplasms arising from the mesenchyme and sex cords. The main clinical appearance of the juvenile GCTs is represented of signs of excessive estrogen (Precocious puberty - 75% of cases) or testosterone secretion (rare).Aim: To present the different clinical presentation and outcome in a case series of a rare tumor patients.<p clas...

Introduction: Deficiency of 17β-hydroxysteroid dehydrogenase 3 (17β-HSD3) enzyme encoded by HSD17B3 is a rare cause of disorders of sex development (DSD). The phenotype associated with 17β-HSD3 deficiency in 46, XY individuals is variable, ranging from predominantly male external genitalia with micropenis and hypospadias to completely female external genitalia. The diagnosis and management of this enzymatic defect is very challenging.<p class="abste...

Background: Jacobsen syndrome is a rare genetic condition caused by partial deletion of the long arm of chromosome 11 associated with delayed development, distinctive facial features, bleeding disorder, skeletal abnormalities and endocrine disorders.Case report: We report a rare case of Jacobsen syndrome in 4 year old boy addressed for short stature. Born at term (36 W) with low birth weight (1780 g) and delayed development, his height at presentation wa...