ESPE Abstracts

Background: Disorders of sex development (DSD) can be caused by many hormonal and genetic defects. One rare condition is a mutation of the SRY-gene disturbing normal sex differentiation. Identical twins with this disorder of varying degree are presented to learn how difficult social sex assignment may be in such a case.Case presentation: Identical 46, XY twins were born in 1985 from non consanguineous, healthy parents of German origin. T...

Background: Multiple anterior pituitary hormone deficiency (MPHD) may present in the newborn period or in early infancy with hypoglycemia, prolonged cholestatic jaundice micropenis, undescended testes due to GH, ACTH, and LH deficiency. Central hypothyroidism is becoming manifest later, less severe than primary hypothyroidism, usually without intellectual impairment. A male patient was admitted to our clinic with severe short stature at the age of 2 years, born with normal len...

Background: 46, XY-disorders of sex development (DSD) are due to different causes like androgen insensitivity, gonadal dysgenesis, defects in testosterone metabolism and others. Exact diagnosis is mandatory prior to medical advice, therapeutic steps, or even surgical procedures. To show the difficulties of gender assignment before and also after a correct diagnosis we describe a patient who waited 35 years for the complete diagnosis, but was advised, treated and operated befor...

Preliminary results:Objective: Although low birthweight (bw) and unfavourable intrauterine conditions have been associated with metabolic sequelae in later life, little is known about their impact on steroid metabolism. We studied genetically identical twins with intra-twin bw-differences from birth to adolescence to analyse the long-term impact of bw on steroid metabolism.Methods:...

Background: The Easypod Connect Observational Study (ECOS) observational study follows children with GHD, SGA and Turner syndrome receiving r-hGH therapy for up to 5 years, with interim analyses each year. The easypod electromechanical auto-injector device enables accurate, real-world digital records of patients’ adherence to rhGH to be collected for evaluation.Objective and hypotheses: The primary objective of ECOS is to evaluate the level of adher...

Introduction: Until recently, bariatric surgery (BS) has been the only option for clinically meaningful weight reduction for adolescents and youth with extreme obesity. Low participation rate in follow-up examinations and low supplement intake after BS in adolescents has been described in literature (PMID: 24048144, 25078533). We developed a structured pre- and post-bariatric surgery program in order to improve follow-up rate and supplement intake in adolescen...

Background: Despite high survival rates in childhood craniopharyngioma, prognosis is frequently impaired due to sequelae. Radical surgery was the treatment of choice for several decades. However, even at experienced surgical facilities radical surgery can result in hypothalamic disorders such as severe obesity.Objective and hypotheses: We analyzed, whether treatment strategies for childhood craniopharyngioma patients recruited in German studies (KRANIOPH...

The leptin melanocortin signaling pathway plays a pivotal role in body weight regulation within the hypothalamus. Gene mutations within this cascade are leading to early onset obesity and severe hyperphagia in rodents and humans. For the affected patients it is extremely difficult to stabilize body weight based on the persisting hunger feeling. Traditional treatment options (increased exercise, reduced caloric intake) are not effective in most cases. Therefore, there is a need...

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Background: Craniopharyngioma is an embryonic tumor of low-grade malignancy. Children and adolescents with this diagnosis are analyzed concerning quality of life (QoL) and (progression-free) survival within the project KRANIOPHARYNGEOM 2007.Methods: The prospective, multi-center project consists of a randomized, unblinded substudy with adaptive design and an observational study. The randomized substudy for incompletely r...