ESPE Abstracts

Background: The French population of the SAGhE study showed an increased morbidity and mortality due to cerebrovascular disease in growth hormone (GH) treated subjects compared to the general population. Cerebrovascular health can be assessed using neuroimaging markers on MRI. One of the markers is white matter hyperintensity (WMH).Objective: To assess cerebrovascular health by scoring WMH on MRI in young adults born sma...

The proband is a Caucasian girl with primary amenorrhea and no breast development at the age of 16 11/12 yrs. Unrelated parents; an older brother in good health and a twin brother (GA 31 days; BW 1450g) with reported agenesis of the corpus callosum and socio-emotional behavioral problems. The mother (menarche 14 yrs. and bicornuate uterus) presented four early spontaneous abortions and one stillborn fetus (46, XX) in the 6th month of pregnancy; remaining negative family histor...

Introduction: Individuals with Prader-Willi syndrome (PWS) suffer from hyperphagia, hypotonia and hypothalamic dysfunction, leading to a variety of pituitary hormone deficiencies. Central adrenal insufficiency (CAI) has been reported in PWS, while each of these studies used different testing modalities and cut-off values. Therefore, reported prevalence of CAI ranges from 0% to 60%. It has been speculated that CAI might be responsible, at least in part,...

Background: Isolated growth hormone deficiency (IGHD) is a relatively common disorder. Current diagnostic protocols require a brain MRI of the hypothalamus and the hypophysis after establishment of the diagnosis, with the aim of identifying structural defects and specifically rule out an underlying space-occupying lesion. An MRI scan is costly and requires general anesthesia in young children. Data on the contribution of brain MRI in diagnosing children with I...

Context: Synthetic corticosteroids are medications frequently prescribed for a wide range of medical indications. Various preparations differ in their biological effect, mode of administration, potency and duration of action. Comprehensive knowledge is essential in order to prescribe corticosteroids in an efficient yet safe manner.Objectives: To explore pediatricians' practices and attitudes regarding corticosteroid ...

Background: Age at onset of puberty exhibits a remarkable variation mirroring nutritional, environmental, socioeconomic and genetic factors. While large genome-wide association studies identified more than hundred genetic loci associated with age at menarche in girls, knowledge on loci associated with age at pubertal onset in boys is sparse. FSHB/FSHR genetic variants have been shown to affect pubertal timing in girls and reproductive parameters in men.<p class="a...

Background: Children exposed to gestational diabetes mellitus (GDM) in utero have higher risk of development of glucose intolerance and diabetes mellitus.Objective and hypotheses: The study was undertaken to assess the selected carbohydrate parameters in children exposed to gestational diabetes in utero.Method: 50 children exposed to gestational diabetes were compared with 46 control subjects. Anthropometric parameters of a newborn...

Background: Increased cerebrovascular morbidity and mortality was reported in adults who were treated with growth hormone (GH) during childhood, including those born SGA, compared to the general population. However, previous studies did not have an appropriate control group of untreated SGA adults which was a major limitation.Objective: To assess cerebrovascular abnormalities (aneurysms, previous intracerebral hemorrhage...

Background: Pycnodysostosis is a very rare autosomal recessive skeletal dysplasia caused by cathepsin K deficiency. It is characterized by extreme short stature resulting in an adult height in males typically <150 cm and in females <134 cm. Bone-fragility and frequent fractures are present. There are few case-reports on the effects of GH treatment.Objective: To evaluate the effect and safety of GH in 6 patients wit...

Down syndrome (DS) is characterized by a higher incidence of congenital hypothyroidism (CH) and a high prevalence of subclinical hypothyroidism (SH) early in life. Children and adults with DS have an increased risk of developing autoimmune thyroid disease, however CH and early SH cannot be explained by thyroid autoimmunity. The etiology of CH and early SH in DS remains to be elucidated. Considering the recently discovered genome-wide transcriptional and epigenetic alterations ...