ESPE Abstracts

Background: Vitamin D insufficiency is more frequent than expected also in Western Europe, however the relieve of a ‘health’ child with rickets is uncommon in Caucasians.Objective and hypotheses: Explain clinical severity by a genetic background.Method: We describe the clinical case of a 2.5-year-old girl with skeletal deformities. She was 86.5 cm (10° Cent), 12.5 kg (3–10° Cent); PH1B1. She showed typical ...

Background: Severe short stature is considered when height falls below −4 SDS. When infants with extreme short stature are evaluated, often multidisciplinary input is required, before a formal diagnosis is met.Objective and hypotheses: We want to learn from delayed diagnosis of child with panhypopituitarism and review subsequent difficulties in starting GH treatment.Method: Retrospective review of notes, investigations and pa...

Background: Cystic fibrosis is associated with abnormal lipid metabolism and this anormality is commonly characterized by low cholesterol and hypertriglyceridemia. The increasing in life expectancy of cystic fibrosis patients has enhancing the interest for prevent the risk factors for cardiovascular diseases like dyslipidemias.Objective and hypotheses: Determine whether concentrations of cholesterol and triacylglycerol are related to nutritional status a...

Background: Heterozygous alterations of SHOX and its regulatory region PAR1 are identified in approximately 70% of Léri-Weill dyschondrosteosis and 2–5% of idiopathic short stature cases. Identification of a SHOX mutation enables GH treatment to be offered to the patient.Objective: To evaluate the clinical characteristics of seven patients with SHOX haploinsufficiency and their evolution.Method: Retrospective analysis of ...

Introduction: Thyroid cancer is the most common pediatric endocrine cancer, constituting 0.5%–3% of all childhood malignancies. Cancer can be present in multinodular thyroid disease but the majority of malignant nodules are solitary. Thyroid malignancies in children are almost always well differentiated.Aim: Prevalence, clinical features, pathological profile and therapy of thyroid cancer in children.Patients and method: Retro...

A female patient was firstly evaluated at the age of 12 years, complaining of headaches and visual loss. Physical examination demonstrated adequate height and weight, Tanner stage P1B1. Papillary edema was confirmed by fundus examination. MRI showed a pituitary macroadenoma, 6.6×7.3×6.1 cm with compression of the optic chiasm and bilateral cavernous sinus invasion. The first prolactin value obtained was 169.164 uUI/ml (normal<210) with the other pituitary axis wi...

Background: Turner syndrome is the most common sex chromosome disorder in females and occurs in about 1/2500 newborn girls worldwide. On chromosomal analysis, the various karyotypes observed are: 45,X (50%); 45,X/46,XX (20%); 46,X, i(Xq) (15%); 46,X, r(X) or 46,X, del(X) (10%); and others (5%).Objective and hypotheses: We present the case of a 17-year-old girl referred to our service for primary amenorrhea. Clinical examination: height=163 cm (62nd perce...

Background: There are many aspects of the child thyrotoxicosis similar as in adult but there are also particular characteristics. Thyrotoxicosis is rare in childhood and in majority is about Grave’s Disease.Study Group: 61 patients with ages between 9 and 19 years that were admitted for hyperthyroidism in our department for 19 years. The diagnosis was sustained by clinical signs, hormonal profile, and ultrasound and scintigraphy exam.<p class="a...

The aim of this study is to evaluate the modifiable factors of metabolic risk among survivors of childhood acute lymphoblastic leukemia (ALL) treated at a single center in comparison with healthy controls.Forty-seven long-term survivors, aged 9-32 years were compared to 35 age- and sex-matched controls. Anthropometric features and laboratory findings were assessed. The body composition was measured by Dual-energy X-ray absorptiometry (DEXA). The physical...

Introduction: The new technologies in diabetology improved not only HbA1c, but also ‘Time in range’, ‘Glycemic variability Index ‘/GVI/, and ‘Patient’s Glycemic Status’ /PGS/. Parents of children and patients with diabetes demonstrated impatience for artificial pancreas systems /APS/. They initially created ‘Nightscout’ platform for remote monitoring of the glucose sensors and then – Do It Youself Open Source Artificial Pancrea...