ESPE Abstracts

Introduction: Thyroid diseases are among the most common endocrine disorders affecting children and adolescents. These conditions are often associated with a wide range of skin disorders such as xerosis, mixedema, hypohidrosis, eczema, and more rarely hypertrichosis.Case: A 5-year-old female child was referred to our clinic due to short stature, Cushingoid appearance and marked hypertrichosis. At birth length and weight ...

Background: Prader–Willi syndrome (PWS) is a rare genetic disorder caused by a loss of function of specific genes on chromosome 15. It is characterized by infantile lethargy and hypotonia causing poor feeding and failure to thrive, childhood obesity, short stature, and hypogonadism, that causes incomplete, delayed, and sometimes disordered pubertal development.1 Precocious puberty is very rare in PWS. We report a girl with PWS and idiopathic p...

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...

Background: Vitamin D is now recognised as a prohormone, essential for the maintenance of mineral homeostasis, calcium metabolism and normal skeletal architecture. 30 ng/ml or greater can be considered sufficient serum levels. The prevalence of vitamin D deficiency among severely obese children is almost 49% caused by the fact that it is sequestered in the larger body pool of fat of such individuals, being vitamin D fat soluble. Vitamin D deficiency has been recently associate...

Background: Polycystic Ovary Syndrome (PCOS) is characterized by clinical and/or biochemical hyperandrogenism, oligo-anovulation and/or ultrasound finding of polycystic ovaries. Insulin-resistance represents the etiopathogenetic key of PCOS: a deficit of Inositol’s tissue availability seems to be responsible for this clinical picture. Hyperglycemia resulting insulin-resistance, determines a state of chronic inflammation, which increases oxidative stress.<p class="abst...

Background: Pituitary hyperplasia secondary to primary hypothyroidism (PHPH) is a rare cause of sellar mass in paediatric patients. Longstanding and untreated primary hypothyroidism leads to hyperplasia of thyrotrophs and lactotrophs as well as transdifferentiation of somatotrophs to thyrotrophs. Hashimoto's thyroiditis is the most common cause of hypothyroidism in PHPH. Clinical findings of PHPH include growth retardation, obesity and symptoms of hypothy...

Background: Achondroplasia is the most common form of skeletal dysplasia, caused by activating mutations of FGFR3 gene. In the previous years the management of achondroplasia was focused on prevention and treatment of complications related to the altered cartilage maturation. Therapeutic spectrum of achondroplasia was broadened by approval of Vosoritide (VOXOZOGO®), a synthetic recombinant analogue of C-natriuretic peptide (CNP). The interaction between ac...

Introduction: Neonatal hyponatremia with hyperkalemia is an uncommon but potentially life-threatening occurrence. Congenital adrenal hyperplasia is often suspected in these cases, but among the alternative diagnoses, it is important to consider pseudohypoaldosteronism, a rare syndrome characterized by increased aldosterone secretion associated with clinical signs of hypoaldosteronism.Case presentation: A 21-day-old femal...

Background: At present few data have clearly showed an increased frequency of idiopathic central precocious puberty (CPP) in females during the COVID-19 pandemic. The role of environmental factors is not fully understood and various hypotheses have been formulated.Aims of the study: To evaluate retrospectively the incidence of newly diagnosed CPP and other pubertal disorders (Premature thelarche, early puberty, fast pube...