ESPE Abstracts

Objective: Acute adrenal crisis is one of the main concerns in children with classic congenital adrenal hyperplasia (CAH). The aim of this study was to evaluate hypoglycemic and salt-wasting episodes in children with an established diagnosis of classic 21-hydroxylase deficiency (21-OHD) after start of treatment.Methods: A retrospective observational study was conducted for 85 patients with classic CAH (68 salt-wasting and 17 simple virilizing), aged 1 to...

Poland’s syndrome is characterised by unilateral absence or hypoplasia of the pectoralis muscle, associated with the ipsilateral malformation of the hand. The syndrome is usually sporadic and occurs in about 1:32.000 live births. Poland’s syndrome has been described associated with other abnormalities, including renal aplasia or hypoplasia, hemivertebra, Klippel-Feil syndrome and Moebius’ syndrome. In literature are reported six cases of Moebius syndrome associa...

Introduction: In human, the development of the embryonic gonads represents a complex process involving a large number of genes, some still unknown. Specific pathways have a crucial role for the normal ovarian development, the germ cell genomic stability and hormonal maintenance. These pathways’ dysregulation can lead to POF, clinically manifesting as the absence of pubertal onset and/or amenorrhea.Objective: To identify candidate genes responsible f...

Background: The onset of physiological puberty in females is characterized by physical, hormonal, and genital changes. However, a single specific parameter to early identify these modifications does not exist; its identification could be extremely useful in the evaluation of pubertal development disorders. The uterine artery pulsatility index (PI), defined as systolic peak – diastolic peak/average speed of maximum flow, is an expression of vascular compliance in the uteri...

Background: GnRH analogs (GnRHa) have been used in the management of central precocious puberty (CPP). The response to GnRHa treatment are evaluated by clinical, hormonal, and ultrasonographic criteria. However, a single parameter to define the adequacy of therapy is not defined. The uterine artery pulsatility index (PI), defined as systolic peak – diastolic peak/average speed of maximum flow, is an expression of vascular compliance in the uterine artery. Circulating estr...

Background: Disorders of sex development (DSD) are congenital conditions in which chromosomal, and gonadal or anatomical sex is atypical.Objective and hypotheses: We describe the case of a 46,XX newborn with ambiguous genitalia. 46,XX DSD set in differential diagnosis disorders of gonadal development (ovotesticular DSD, testicular DSD, gonadal dysgenesis), androgen excess of fetal (mainly congenital adrenal hyperplasia due to deficiency of 21-hydroxylase...

Introduction: Early identification of classic 21OH-Congenital Adrenal Hyperplasia (21OH-CAH) through newborn screening (NBS) is crucial to prevent adrenal crises, especially in males. Today 21 OH-CAH NBS is performed in 5/21 regions of Italy. This study aims to report the results of 21OH-CAH NBS in Italy from 2006 to 2019.Methods: All patients underwent a dried blood spot (DBS) test for 17OH-progesterone (17OHP) within t...

Background: The 5α-reductase-2 (5R2) deficiency is a rare 46, XY disorder of sex differentiation caused by mutations in the 5R2 gene. Diagnostic and clinical management is not well definite.Aims and objectives: To describe relevant features of 5R2 deficiency in a large sample.Methods: Retrospective records of persons with 5R2 deficiency were reviewed and clinical, endocrinological, genetic data analysed....

Objectives: 1. To describe the clinical, biochemical and testicular ultrasonographic features in a population of males with congenital adrenal hyperplasia (CAH) and Testicular Adrenal Rest Tumor (TART). 2. To identify factors related to the onset of TART. 3. To evaluate the therapeutic management and outcome of TART.Methods: Males with classic and non-classic 21β-hydroxylase-deficient CAH, diagnosed with TART, follo...

Background: Adrenal insufficiency (AI) is a rare condition caused by an inadequate production of glucocorticoids. Preliminary data in adults suggest that AI could be associated with an increased susceptibility to infections; moreover, AI patients are at risk to develop a severe course of infectious diseases and to experience a life-threatening adrenal crisis. The aim of our study is to evaluate the severity and the outcome of COVID-19 in pediatric AI patients ...