ESPE Abstracts

Background: Down syndrome (DS) is the most common genetic (chromosomal) mental retardation syndrome. In these patients, several environmental and hormonal factors contribute to low bone mineral density (BMD), among these factors, vitamin D may play a significant role in the health of patients with DS. However, poor studies have evaluated 25-hydroxy cholecalciferol (25(OH)D) levels in DS.Objective and hypotheses: The purpose of this study was to assess se...

Background: Unlike precocious puberty, early and/or fast puberty have been less studied, despite the fact that this disorder may be associated to an organic lesion at CNS level.Objective and hypotheses: We illustrate a case of early and fast puberty in a girl with an occult intra-cranial tumor.Method: The girl was the first child of non-consanguineous, Italian parents. The family had a positive history of early puberty. Target heig...

Background: Vernal keratoconjunctivitis (VKC) patients have an elevated incidence of growth hormone deficiency and thyroid diseases. Nevertheless, no auxological data are available in these subjects.Objective and hypotheses: The purpose of this study was to evaluate the auxological features in a cohort of patients with VKC.Method: This study included 179 Caucasian VKC patients (119 males, 60 females; mean age 9.63±2.98 years) ...

Introduction: Heterozygous mutations in IHH are known to cause Brachydactyly type A1 (BDA1), in which the typical clinical features are bilaterally short-ening or absence of the middle phalanges of most digits of hands and feet, shortness of 1st proximal bone and short stature; althougt short stature is considered part of BDA1, in most reported cases is not always present or unrelevant compared to the stature of unaffected relatives. Recently heterozygous mutations ...

A 5-year-old Moroccan patient comes to our attention due to impaired gait with pain in the lower limbs, easy fatigue and poor gain in weight and stature. In the previous months he had some episodes of abdominal pain. During our first physical examination he was pale, with diffuse muscular hypotrophy, uncertain gait with an enlarged base, dubious hypertrophy of the calves and Gowers' sign. No varus / valgus of the lower limbs. Symmetrical and normo-evocable osteotendinous ...

Background: Thyroid dysfunction is a well-known endocrine complication after cervical irradiation for Hodgkin’s lymphoma (HL). The most common are primary hypothyroidism (20–30%), central hypothyroidism, transient thyroiditis and thyroid cancer. Graves’ disease (GD) is less frequent (5%).Objective and hypotheses: We describe a boy, already diagnosed with thyroiditis, who developed GD during follow-up for severe hypothyroidism following rad...

GnRH–secreting neurons are unusual neuroendocrine cells, as they originate in the nasal placode outside the central nervous system during embryonic development, and migrate to the hypothalamus along the vomeronasal and terminal nerves. Postnatally these cells become integral members of the hypothalamic-pituitary-gonadal axis and they regulate puberty onset and reproduction through the release of GnRH into the pituitary portal blood vessels for delivery to the anterior pit...

Background: Technology applied to type 2 diabetes (T2D) is an area of investigation with important clinical applications.Objective and hypotheses: There are three issues which should be considered: is continuous subcutaneous insulin infusions (CSII) effective for treatment of T2D? What is the level of satisfaction and quality of life in T2D patients using CSII? Are CSII and glucose monitoring in T2D relevant from an economic perspective?<p class="abs...

Background: The diagnostic use of IGF-1 in children suspected of GHD is based on the assumption that a single determination of this parameter reflects the integrated 24-h GH secretion. IGF-1 levels are low in GHD, but a study found a significantly lower sensitivity in children with organic lesions in the brain.Objective: The aim of this study was to check if there is a statistically significant relation between IGF-1 values in children with GHD with and ...

Background: Postural orthostatic tachycardia syndrome (POTS) is a multifactorial condition, which implies symptoms as fatigue, tachycardia, sleep disorders and autonomic symptoms. The fundamental clinical sign is the manifestation of an abnormal increase in heart rates of at least 40 bpm within 10 minutes assuming an upright position, delineating a condition of orthostatic intolerance and decreasing quality of life.Objective</str...