hrp0089p2-p010 | Adrenals and HPA Axis P2 | ESPE2018

Hypoglycemic Crisis and Salt Loss in Children with Classic Congenital Adrenal Hyperplasia

Badalucco Simona , Meroni Silvia Laura Carla , Di Lascio Alessandra , Gianninoto Moira , Stancampiano Marianna Rita , Russo Gianni

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...

hrp0089p3-p310 | Pituitary, Neuroendocrinology and Puberty P3 | ESPE2018

Poland’s Syndrome and Hypogonadotropic Hypogonadism

Stancampiano Marianna Rita , Meroni Silvia Laura Carla , Lascio Alessandra Di , Gianninoto Moira , Russo Gianni

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...

hrp0089p1-p236 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology P1 | ESPE2018

Identification and Analysis of the Genetic Causes of Premature Ovarian Failure (POF) in a Cohort of Adolescent Girls

Rita Stancampiano Marianna , Laura Carla Meroni Silvia , Di Lascio Alessandra , Gianninoto Moira , Russo Gianni

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...

hrp0082p1-d3-221 | Reproduction (2) | ESPE2014

The Uterine Artery Pulsatility Index as an Accurate Index for the Assessment of Puberty

di Lascio Alessandra , Colantoni Caterina , Carla Meroni Silvia Laura , Gianninoto Moira , Paesano Pierluigi , Russo Gianni

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...

hrp0082p1-d3-222 | Reproduction (2) | ESPE2014

The Uterine Artery Pulsatility Index in Evaluation of the GnRH-Analog Treatment Efficacy in Central Precocious Puberty

di Lascio Alessandra , Colantuoni Caterina , Carla Meroni Silvia Laura , Gianninoto Moira , Paesano Pierluigi , Russo Gianni

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...

hrp0082p3-d1-954 | Sex Development | ESPE2014

46,XX DSD: Bilateral Ovotestis with SOX9

di Lascio Alessandra , Meroni Silvia Laura Carla , Gianninoto Moira , Zuffardi Orsetta , Russo Gianni

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...

hrp0084p3-780 | DSD | ESPE2015

Clinical Findings, Endocrine Profile and Genetic Features of 5α-Reductase-2 Deficiency

Russo Gianni , Baldinotti Fulvia , Ghirri Paolo , Meroni Silvia , Colombo Ilaria , Moscuzza Francesca , Baroncelli Giampiero I , Sessa Maria R , Dati Eleonora , Bertelloni Silvano

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....

hrp0086p1-p34 | Adrenal P1 | ESPE2016

Primary Adrenal Insufficiency in Children: Results from a Large Nationwide Cohort

Capalbo Donatella , Rezzuto Martina , Cappa Marco , Ferro Giusy , Balsamo Antonio , Baronio Federico , Russo Gianni , Stancampiano Marianna , Greggio Nella Augusta , Tosetto Ilaria , Valenzise Mariella , Wasniewska Malgorzata Gabriela , Maghnie Mohamad , Calcagno Annalisa , Radetti Giorgio , Longhi Silvia , Moracas Cristina , Betterle Corrado , Salerno Mariacarolina

Background: Primary adrenal insufficiency (PAI) is a rare life-threatening disorder. Data on PAI in children are scanty, with the exception of Congenital Adrenal Hyperplasia (CAH) due to 21-hydroxylase deficiency (21OHD).Objective and hypotheses: Evaluate etiology of PAI in a large cohort of children and characterize clinical presentation in subjects with PAI not due to 21-OHD.Method: Children followed in eight tertiary centers wer...

hrp0082p2-d2-332 | Diabetes (1) | ESPE2014

Game Interaction Between a Humanoid Robot and a Diabetic Teenager: Might This Improve Motivation to Fill in the Nutritional Diary?

Sanna Alberto , Baroni Ilaria , Oleari Elettra , Colombini Maria Iole , Pozzi Clara , Russo Gianni , Rigamonti Andrea , Frontino Giulio , Favalli Valeria , Battaglino Roseila , Bonura Clara , Bonfanti Riccardo , Ferro Giusy , Chiumello Giuseppe

Introduction: This study describes the experience of introducing Nao, a humanoid robot, into a Summer Camp for children with diabetes (August 2013, Misano Adriatico, Italy), with the aim to provide them a companion capable to support and motivate. Our goal was to investigate if, Nao’s interactions with children could positively affect the adherence to specific medical recommendations during their stay. Namely children were asked to fill in a specific nutritional diary. Th...

hrp0095p1-413 | Adrenals and HPA Axis | ESPE2022

Incidence and severity of Coronavirus Disease 2019 (COVID-19) in children with primary and secondary adrenal insufficiency during the pandemic in Italy

Moracas Cristina , Russo Gianni , Baronio Federico , Ortolano Rita , Rita Stancampiano Marianna , Cavarzere Paolo , Zoller Thomas , Longhi Silvia , Felicia Faienza Maria , Patti Giuseppa , Elisabeth Street Maria , Guzzetti Chiara , Valenzise Mariella , Giavoli Claudia , Salerno Mariacarolina , Capalbo Donatella

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 ...