ESPE Abstracts

Oculocerebrorenal syndrome of Lowe (OCRL) is an X-linked and multisystem disorder with clinical symptoms of congenital cataracts, severe mental retardation, hypotonia, areflexia, and incomplete Fanconi syndrome of the proximal renal tubules. We report a 15-year-old short stature male with a severe form of OCRL syndrome, diagnosed based on bilateral congenital cataract, proteinuria, tubulopathy, and dysmorphic findings. The physical examination revealed a height of 152 cm (-2.7...

Introduction: Non-communicable diseases are recognized as a major cause of morbidity in low and middle-income countries (LMICs). There are 21 francophone countries (>100 million speak French) in Sub-Saharan Africa (FSSA). We identified only 19 pediatric endocrinologists in FSSA (37% in Cameroon and Senegal) mostly trained in France or through the successful anglophone “Paediatric Endocrine Training Centers for (West) Africa” (PETC[W]A) offered i...

Background: Anti-Mullerian hormone (AMH) concentration is now well studied for prepubertal boys (Plotton, 2009, 2012) or women in reproductive medicine, but there is few data about reference value in newborns. This dosage could be helpful for the management of disorders of sex development.Objective: The objective was to determine reference values of AMH on umbilical cord blood and to compare the values to DSD new born diagnosed during the evaluation....

Background: MODY is characterised by an early onset of diabetes and a positive family history of diabetes with an autosomal dominant mode of inheritance. We report a 15 year girl with a HNF1A mutation who presented with MODY without a positive family history.Objective and hypotheses: HNF1A-MODY is often misdiagnosed as type 1 or type 2 diabetes. Genetic confirmation of MODY in insulin-treated patients helps in making changes in the treatment modality as ...

Capillary hyperglycemia in critically ill infants is a situation with numerous interfering factors, from acute illnesses to concomitant use of medications and may or may not be a manifestation of endocrinological urgency. Clinical case: Female patient, 2 months old, with failure to thrive, hepatomegaly without cholestasis, polyuria and compensated metabolic acidosis. On admission, capillary blood glucose levels above 200 mg/dL were measured even without concomitant use of cort...

Background: Obesity is a worldwide epidemic affecting adults and children. Social changes throughout history have contributed to modifications in nutrition and physical activity levels. These changes in lifestyle affected health, increasing the number of metabolic and cardiovascular diseases. Obese children already have a low grade systemic inflammation as well as markers of increased cardiovascular risk. The endothelial function is an important and early marker of atheroscler...

Background: Emotional and behavioural problems are often used in support of GnRH agonists therapy in girls with early pubertal timing. However, there is little evidence to show that CPP leads to psychological distress and whether treatment is associated with improved psychological outcome.Objective and hypotheses: The objective of this qualitative study was to explore the psychosocial impact of ICPP in recently diagnosed girls.Meth...

Background: Growth charts constitute an important tool to monitor a child’s growth and development, and thus detect growth anomalies. Growth assessment allows early referral and management of treatable disorders. In France, the currently used growth reference charts were derived at the end of 1970s, based on children born on 1950s in Paris area. Questions are raised about their use for growth monitoring of more recently born children.Objectives: To ...

Growth hormone deficiency (GHD) is a relatively rare cause for short stature resulting from insufficient secretion of growth hormone (GH). With complicated etiology, GHD can coexist in numerous syndromes or disorders such as Turner Syndrome. So, it is necessary to take genetic analysis to patients with GHD especially those perform various phenotypes. A 9.5 years old boy complained of short stature was diagnosed with GHD by height velocity (HV) <5 cm/year, delayed bone age ...

Background: The periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA) syndrome, is an autoinflammatory disease characterised by regularly recurrent fever episodes, due to seemingly unprovoked inflammation.Objective and hypotheses: The aim of the study was to assess serum 25-hydroxy cholecalciferol (25(OH)D) concentrations in children with PFAPA and to evaluate longitudinally the effect of wintertime supplementation on 25(OH)D st...