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...

hrp0086p1-p364 | Gonads & DSD P1 | ESPE2016

Genotyping Patients with Differences of Sex Development: 25 Years of Investigation of an Italian Population of 308 Cases (194 46,XY and 114 46,XX)

Baldazzi Lilia , Menabo Soara , Baronio Federico , Ortolano Rita , Cassio Alessandra , Mazzanti Laura , Balsamo Antonio

Background: Differences of sex development (DSDs) (conditions with atypical development of chromosomal, gonadal or anatomic sex) are classified into three groups: sex chromosome DSD, 46,XYDSD and 46,XX DSD. Around 1 newborn in 5000 presents ambiguous genitalia with a major challenge for male or female assignment. The identification of a genetic cause can contribute to a correct diagnosis and to optimize both management and genetic counselling.<p class="abs...

hrp0082p1-d2-25 | Autoimmune Endocrine Disease | ESPE2014

Autoimmune Polyendocrinopathy Candidiasis Ectodermal Dystrophy: New Insights into Phenotype and Genotype*

Valenzise Mariella , Aversa Tommaso , Fierabracci Alessandra , Porcelli Paolo , Betterle Corrado , De Luca Filippo

Background: Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal-Distrophy (APECED) is a rare autosomal recessive disease, caused by mutations of AIRE gene on chromosome 21. It is characterized by three main diseases: chronic mucocutaneous candidiasis (CMC), chronic hypoparathyroidism (HP) and Addison’s disease (AD).Objective and hypotheses: In this paper we review the clinical phenotypes and the genotypes of pediatric Sicilian population affected b...

hrp0082p1-d1-59 | Diabetes | ESPE2014

A Randomized, Crossover Pilot Study Comparing Glycemic Control and Satisfaction with an Indwelling Catheter (I-PORT Advance) for Insulin Administration in Children and Adolescents with Type 1 Diabetes on Basal-Bolus Treatment

Maltoni Giulio , Martini Anna Lisa , Rollo Alessandra , Perri Annamaria , Zucchini Stefano

Background: Intensive insulin treatment allows a good metabolic control and prevents long-term complications. Basal-bolus regimen is the best treatment for children with type 1 diabetes T1D but requires several insulin injections a day. The needle-fear and discomfort felt by the child and parents/caregivers for insulin administration is one of the main obstacle to good compliance.Objective and hypotheses: To compare glycemic control and satisfaction with...

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...

hrp0082p2-d3-560 | Puberty and Neuroendocrinology (2) | ESPE2014

Adult Height Outcome of Girls with Idiopathic Central Precocious Puberty Treated with GnRH Analogs is Irrespective of BMI

Aversa Tommaso , Valenzise Mariella , Wasniewska Malgorzata , Messina Maria Francesca , Santisi Alessandra , De Luca Filippo

Background: GnRH analogs (GnRHa) have been used in treatment of idiopathic central precocious puberty (ICPP) for several decades. Their effectiveness on adult height (AH) improvement has been widely studied and is still debated.Objective and hypotheses: To assess whether BMI changes in ICPP girls during GnRHa treatment can influence AH.Method: A retrospective study of 131 ICPP girls (mean age at diagnosis: 7.6±0.7, range 4.3&#...

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...

hrp0084p2-569 | Thyroid | ESPE2015

Parenting Stress Profile and Children Behaviour in Patients with Congenital Hypothyroidism

Maggio Maria Cristina , Piro Ettore , Alongi Alessandra , Riticella Rita , Salvo Giuseppe , Corsello Giovanni

Background: Hypothyroidism has been associated with cognitive and motor impairments, the degree to which mild hypothyroidism, or subclinical hypothyroidism impacts mood and cognitive functions and whether these symptoms respond to treatment, remains controversial. Furthermore, hypothyroidism is associated with an increased susceptibility to depression and reductions in health-related quality of life.Objective and hypotheses: Recent longitudinal studies s...