ESPE Abstracts

Background: Sclerostin is secreted by the osteocyte and inhibits bone formation by osteoblasts and is thus a negative regulator of bone formation. In adults, sclerostin levels increase after weight loss, which may be prevented by exercise training. The effect of weight loss on sclerostin in children is unknown.Objective and hypotheses: To compare sclerostin levels in children before and after a 10 weeks stay at a weight loss camp (WLC).<p class="abst...

Introduction: CORNELIA DE LANGE Syndrome (CdLS) is a rare syndrome, first described in 1933 by the Dutch pediatrician CORNELIA DE LANGE. This syndrome represents a multi-systemic disorder with physical, cognitive and behavioral characteristics. It is evident in the typical or classical form (craniofacial appearance, short stature and limbs deformities). However, not all individuals with CdLS present with the classic phenotype, as the clinical presentation can ...

Cornelia de Lange syndrome is a genetic disorder with physical, cognitive, somatic and endocrine disorders. Objective. To study endocrine and mammary disorders in girl with Cornelia de Lange syndrome. Objective and hypotheses: We describe a clinical case of Cornelia de Lange syndrome in girl, 10 y.o.Method: Total examination (includingmammological and gynecological examination), hormonal analysis, thyroid, mammological and gynecological ...

Cornelia de Lange Syndrome (CdLS) is a very rare genetic disorder present from birth, but not always diagnosed at birth. It causes a range of physical, cognitive and medical challenges and affects both genders equally. The present study described eight unrelated Chinese children who present with delayed growth and small stature, developmental delay, unusual facial features, limb abnormalities and a wide range of health conditions. Targeted-next generation sequencing using the ...

Background: Congenital hypogonadotropic hypogonadism (CHH) is caused by impaired function of GnRH neurons, which clinically manifests by incomplete or absent puberty and infertility. The phenotype may be broader with other developmental anomalies such as anosmia, which is known as Kallmann syndrome. To date, there are more than 40 genes in which mutations underlie CHH. Cornelia de Lange Syndrome (CdLS) is characterized by facial dysmorphia, psychomotor delay, ...

Background: Cornelia de Lange (CdLS) syndrome (OMIM #122470) is a complex disease, characterized by distinctive facial features, failure to thrive, microcephaly, intrauterine growth retardation and anomalies in multiple organ systems. The complexity and severity of the endocrine commitment is variable. NIPBL, SMC1A, SMC3, RAD21 and HDAC8 genes, all involved in the cohesin pathway, have been identified to cause CdLS. There are few published studies on the endoc...

Even today, the majority of families are caught completely unprepared by the diagnosis of diabetes in their child. The "bad news" hits them like a bolt from the blue and calls into question the future plans of parents and children. The first talk with the paediatric diabetologist, in which the diagnosis is communicated and the therapy is roughly outlined, sets the course for the acceptance of diabetes in the family and the long-term trusting cooperation with the diab...

Type 1 diabetes in childhood is a family project challenging all members 24 h/365 days a year. Parents and children have to perform a multitude of self-management tasks responding to changes in activity, food, emotional well-being and physiology. In addition parents have to combine their role as loving carer with role of the responsible ‘diabetologist’ of their child. Personalized structured education and psychosocial support for all family members are the keys to su...

Background: COVID19 Lockdown resulted in an extreme change in daily lifestyle with a significant increase in weight and loss of quality of life, as well as an increase in the risk of secondary health conditions even in young people. One reason for this is a fatal change in the nutritional situation, especially among adolescents. Convincing models to counter this problem are missing so far. Multiprofessional training programs could reveal an outstanding effect ...

Background: Patients with HP have stunting of various degree of expression but the most pronounced stunting is found in patients with Russell-Silver syndrome, Sekkel syndrome and Cornelius de Lange syndrome which is associated with disorders in the hypothalamus – hypophyseal system (somatostatin - GH).Objective and hypotheses: To study secretion of somatostatin and insulin-like growth factor (IGF-1, IGFBP-3) in various forms of hereditary pathologie...