ESPE Abstracts

Background: Pseudohypoparathyroidism represents a group of clinical and molecular heterogeneous disorders, characterized by functional hypoparathyroidism, caused by end-organ resistance to the action of PTH. Pseudohypoparathyroidism manifests as hypocalcemia, hyperphosphatemia and elevated plasma levels of PTH. A combination of features, also known as Albright osteodystrophy including disproportionate short stature, obesity, dysmorphia, may co-exist.Case...

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: In the past few years, new genes involved with familial predisposition to pituitary tumour development have been recognised, including AIP and SDHx. These factors are likely to underestimate the occurrence of familial pituitary tumour predisposition, commonly thought to account for 5% of all pituitary tumours. Furthermore, the clinical management of aggressive pituitary tumours is challenging, particularly when tumours exhibit resistance to standa...

Initially discovered in the 1970s, the C21 steroidal acids α-cortolic acid, β-cortolic acid, α-cortolonic acid and β-cortolonic acid present the terminal oxidative products of cortisol metabolism. Undergoing renal elimination, these cortoic acids have been assumed to represent up to 25% of total urinary cortisol metabolites. However, their analysis has been difficult, only few data has been published in adults, and this class of steroids has beco...

Background: Aluetta® Smartdot™ (Merck Healthcare KGaA, Darmstadt, Germany) is first of its kind digitally connected smart injection pen device for recombinant-human growth hormone (r-hGH) administration. Aluetta® pen with Smartdot™ knob attachment integrated with Growzen™ digital ecosystem enables healthcare professionals (HCPs) to remotely monitor adherence and achieve optimal clinical outcomes for patients....

Background: Anorexia nervosa (AN), a state of chronic nutritional deprivation prevalent in children and young adolescents, is associated with major changes to the hypothalamic–pituitary axis including the GH–IGF1 axis, thyroid function, hypercortisolemia, and hypogonadotropic–hypogonadism, with delayed puberty and a low growth velocity (GV) at a time critical for the pubertal growth spurt, potentially affecting adult height. The effects of supraphysiological hum...

Background: overexpression of the oncogene Yes-associated protein 1 (YAP1), a Hippo pathway target, associates with increased cell proliferation in some human cancers. There is not data on adrenocortical tumors (ACT). YAP1 is a potential target of Wnt/β-catenin pathway, which plays an important role in ACTs.Objective and hypotheses: to evaluate the role of YAP1 and its interaction with the Wnt/β-catenin pathway in ACT.Met...

Introduction: Precocious puberty (PP) is defined as the appearance of thelarche before the age of 8 years, in girls. The gold standard for the diagnosis is represented by the increase of LH level after stimulation with native GnRH, but a feasible alternative involves the administration of GnRH analogues. This test is poorly standardised and currently literature lacks of defined values to confirm the activation of the hypothalamic-gonadal axis, since they depen...

A 16-year-old boy was admitted to the Emergency Department for a painless laterocervical swelling, dysphagia and an ultrasound suspect of thyroiditis. On examination he presented facial asymmetry due to maxillary bones hypoplasia and facial nerve palsy of recent onset. There was also a history of hearing loss, hypospadias, Arnold-Chiari malformation and vertebral defects according to a clinical phenotype of Goldenhar Syndrome (GHS). Blood exams showed TSH 7.46 μU/ml (0.68-4...

Backgroud: SarsCov2 infection began to spread worldwide since December 2019 and, on March 2020, the World Health Organization characterized its related disease, named COVID-19, as a pandemic. In Italy, to contain the spread of infection a severe lockdown from March 10th, 2020 to May 4th, 2020 was instituted. Other less severe restrictions were imposed in the winter 2020-2021 and in the spring 2021. The containment measures caused a series of consequences for t...