ESPE Abstracts

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...

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...

Background: Premature pubarche refers to the appearance of pubic hair without other signs of puberty or virilization before 8 years in girls and 9 years in boys. The etiology of premature pubarche is not known. It has been suggested that an early maturation of the zona reticularis of the adrenal cortex is at the basis of premature pubarche, leading to an increase of adrenal androgens to levels that are normally seen in early puberty. In alternative, in children with normal and...

Background: The syndrome of inappropriate antidiuresis (SIAD) is one of the most common causes of hyponatremia: it’s a disorder of sodium and water balance, characterized by urinary dilution impairment and hypotonic hyponatremia, in the absence of renal disease or any non-osmotic stimulus, able to induce antidiuretic hormone (ADH) release. SIAD can be manifestation of a wide range of diseases, including cancer, head trauma, hydrocephalus and epilepsy. Usually transient an...

Background: In North-Eastern Italy, a newborn screening for congenital adrenal hyperlpasia (CAH) has been taking place since 2001 to diagnose the classical form of 21-hydroxylase deficiency (21-OHD). Thanks to the screening program based on 17-OHP levels in dried blood spots, early diagnosis of CAH is possible, allowing appropriate precocious treatment and reducing mortality rates. Unfortunately, a high false positive rate, especially in preterm, low-birth-wei...

Background: Different formulations of gonadotropin-releasing hormone agonist (GnRHa) are available for the treatment of central precocious puberty (CPP). Currently there are few data on quarterly formulation depot (11.25 mg) during treatment.Aim: The purpose of this study is to analyse the effect of Triptorelin 11.25 mg 3-months depot in comparison with the monthly 3.75 mg formulation at the beginning and during the treatment of CPP.<p class="abstext...

Background: Central precocious puberty (CPP) may affect quality of life (QOL) due to premature body and psychological changes that characterize this pathology. Few data are available on health-related quality of life (HRQOL) and social, emotive and behavioral competences in CPP children treated with gonadotropin-releasing hormone agonists (GnRHa). This study aimed to investigate these aspects in a group of CPP girls during therapy.Methods: Fifty-four CPP...

Background: Congenital hyperinsulinism (CHI; MIM #256450) is the most common cause of persistent hypoglycaemia in children. Recessive inactivating mutations in KATP channel subunits, encoded by ABCC8 and KCNJ11 genes, are the most common cause of CHI. Mutations of these genes usually cause forms of CHI which in the vast majority of patients are unresponsive to first line medical treatment with diazoxide. Multiple daily standard octreotide injections combine...

Background: Apparent mineralocorticoid excess (AME) is a rare congenital autosomal recessive disorder resulting from mutations in the HSD11B2 gene, which encodes the kidney isozyme of 11-β-hydroxysteroid dehydrogenase type 2, inactivating circulating cortisol to the less-active metabolite cortisone. Less than 100 cases of AME have been reported in the literature so far. Affected individuals have elevated renal concentrations of cortisol, which can cross-react and activate...

Background: Combined pituitary hormone deficiency (CPHD) is a condition that causes deficiency of several hormones produced by the pituitary gland. The first signs of this condition include a failure to grow at the expected rate and short stature that usually becomes apparent in early childhood. Other features of CPHD include hypothyroidism, delayed puberty, and deficiency of the hormonal cortisol. Some conditions may exacerbate the growth failure of CPHD. Osteogenesis imperfe...