hrp0089p3-p267 | Multisystem Endocrine Disorders P3 | ESPE2018

Unusual Clinical Presentation of Autoimmune Polyendocrinopathy Type 1

Baronio Federico , Ortolano Rita , Ferrari Simona , Cassio Alessandra , Maltoni Giulio , Tonti Giacomo , Balsamo Antonio

Background: Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED) or autoimmune polyendocrinopathy type 1 (APS-1) is a rare monogenic autosomal recessive disease due to pathogenic variants in the AIRE gene. APECED usually begins during early childhood with chronic mucocutaneous candidiasis (CMC), followed by hypopathyroidism (HP) and AddisonÂ’s disease (AD); however, other endocrine and non-endocrine components may occur with a different prevalen...

hrp0086rfc3.8 | Pituitary | ESPE2016

Anthropometric and Endocrine Features in Children and Adolescents with Type 1 Narcolepsy

Ponziani Virginia , Gennari Monia , Pizza Fabio , Balsamo Antonio , Bernardi Filippo , Plazzi Giuseppe

Background: Childhood NT1 has been associated with endocrine disorders like obesity and precocious puberty. These comorbidities may challenge the diagnosis, require tailored treatments and call for a multidisciplinary approach.Objective and hypotheses: To evaluate the impact of type 1 narcolepsy (NT1) on anthropometric and endocrine features in childhood/adolescence, focusing on weight, pubertal development and growth, and their follow up in treated and ...

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...

hrp0082p3-d1-628 | Adrenals &amp; HP Axis | ESPE2014

Familial Glucocorticoid Deficiency: Masked Diagnosis by Hydrocortisone Life-Saving Treatment

Baronio Federico , Marsigli Angelica , Bettocchi Ilaria , Tassinari Davide , Mazzanti Laura , Metherell Louise , Balsamo Antonio

Background: Familial glucocorticoid deficiency (FGD) is a rare and potentially life-threatening disease, characterized by adrenal insufficiency without mineralocorticoid deficiency. It is diagnosed during the neonatal period but also in childhood. Manifestations are recurrent hypoglycemia, seizures or even coma, chronic fatigue, recurrent infections and skin hyperpigmentation. Mutations on mineralocorticoid receptor 2 (MC2R) gene and on melanocortin-2 receptor accesso...

hrp0089p2-p033 | Adrenals and HPA Axis P2 | ESPE2018

Quantitative Ultrasound Evaluation in a Cohort of 43 Young Adults with Classical CAH due to 21-Hydroxylase Deficiency (21OHD): Is Bone Mineral Quality Impaired?

Baronio Federico , Balsamo Antonio , Ortolano Rita , Massaccesi Nicoletta , Bettocchi Ilaria , Zioutas Maximiliano , Maltoni Giulio , Zucchini Stefano , Cassio Alessandra

Background: In young adults patients (pts) with CAH due to 21OHD few and conflicting data have been reported on bone mineral quality (BMQ) evaluated by quantitative ultrasound (QUS).Objective and hypotheses: To evaluate the bone mineral status by QUS variables assessed at proximal phalanges of the hand in a cohort of young adults with classical CAH due to 21OHD and the possible associations with their clinical and metabolic features.<p class="abstext...

hrp0082p2-d1-292 | Bone | ESPE2014

Pseudohypoparathyroidism Type Ib: Two Cases with Different Clinical Presentation

Balsamo Claudia , Baronio Federico , Marsigli Angelica , Bonifacci Valentina , Mantovani Giovanna , Molinaro Angelo , Juppner Harald , Visconti Paola , Mazzanti Laura , Balsamo Antonio

Background: Sporadic pseudohypoparathyroidism type Ib (spor-PHP-Ib) is caused by GNAS methylation alterations with loss of imprinting at the exon A/B differentially methylated region (DMR), without genetic deletions disrupting the STX16 ICR. These patients classically display hormone resistance limited to PTH and TSH with no Albright hereditary osteodistrophy (AHO).Objective and hypotheses: We describe two cases with the same imprinting methylat...

hrp0082p2-d2-579 | Sex Development (1) | ESPE2014

Mosaicism: Study of Nine Patients

Mazzanti Laura , Baronio Federico , Ortolano Rita , Scarano Emanuela , Tamburrino Federica , Colangiulo Angela , Bettocchi Ilaria , Cassio Alessandra , Balsamo Antonio

Background: The isodicentric Y (idic Y) is one of the most common aberrations of the Y chromosome. Most patients (pts) are chromosomal mosaics, including 45,X cell line.Objective and hypotheses: Our aim is to describe clinical and molecular features of our 45,X/46,Xidic(Y) cases.Method: We retrospectively evaluate the clinical description of nine cases (six females, one male, two with ambiguous genitalia) with mosaic karyotype 45,X...

hrp0082p2-d1-590 | Thyroid | ESPE2014

Thyroid Disorders in Siblings of CH Patients with Thyroid Dysgenesis

Cassio Alessandra , Ruscio Valentina Di , Baronio Federico , Bettocchi Ilaria , Cantasano Antonella , Bal Milva Orquidea , Balsamo Antonio , Maltoni Giulio , Mazzanti Laura

Background: Thyroid dysgenesis has been considered a sporadic disease, but recent observations suggested a possible genetic basis.Objective and hypotheses: The aim of our report is to evaluate the incidence of hormonal and ultrasound thyroid anomalies in siblings of CH patients with thyroid dysgenesis.Method: In Emilia-Romagna Region (Italy) 328 CH infants were diagnosed by neonatal screening between January 2000 and December 2012....

hrp0084fc1.4 | Adrenal | ESPE2015

Congenital Adrenal Hyperplasia due to 21 OH Deficiency: Final Height Before and After Newborn Screening Era in Emilia-Romagna Region, Italy

Baronio Federico , Menabo Soara , Bettocchi Ilaria , Baldazzi Lilia , Tamburrino Federica , Montanari Francesca , Cassio Alessandra , Mazzanti Laura , Balsamo Antonio

Background: Final height (FH) in patients (pts) with congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21OHD) is often under the genetic target, despite improvement of new therapeutic strategies.Objective and hypotheses: The aim of this study is to evaluate FH in a cohort of pts with CAH due to 21OHD diagnosed before and after newborn screening (NBS) era in Emilia-Romagna, Italy.Method: We evaluated final heigh...

hrp0084p2-417 | GH &amp; IGF | ESPE2015

GH Therapy in Skeletal Dysplasias: Final Height Data

Scarano Emanuela , Procopio Matteo , Tamburrino Federica , Perri Annamaria , Bettocchi Ilaria , Vestrucci Benedetta , Rollo Alessandra , Balsamo Antonio , Mazzanti Laura

Background: Skeletal dysplasias are characterised by bone-cartilage involvement and impairment of growth and body proportions. Reports of the benefits of GH treatment are difficult to evaluate for the small number of subjects, short period of treatment, few final height (FH) data in groups with and without GH deficiency (GHD).Objective and hypotheses: The aim of our study was to assess FH and body proportions in pts with skeletal dysplasia and GHD.<p...