hrp0095fc7.3 | Growth and Syndromes | ESPE2022

Italian long-term data on efficacy and safety of rhGH therapy in children with SHOX deficiency: the final report of a national survey performed into ISPED Growth Study Group.

Bruzzi Patrizia , Vannelli Silvia , Scarano Emanuela , Elisabeth Maria , Parpagnoli Maria , Salerno Mariacarolina , Secco Andrea , Andrea Trettene Adolfo , Wasniewska Malgorzata , Pitea Marco , Faienza Mariafelicia , Delvecchio Maurizio , Corciulo Nicola , Tornese Gianluca , Filomena Madeo Simona , Iughetti Lorenzo

Background: Among children with idiopathic short stature, Italian data reported a prevalence of short stature homeobox-containing gene (SHOX) deficiency disorders (SHOX-D) near to 1/1.000-2.000 (1.1-15%) with a wide phenotypic spectrum. Current guidelines support recombinant human growth hormone (rhGH) therapy in SHOX-D children, but long-term data are still lacking. This national survey aims to evaluate long-term efficacy and safety of rhGH therapy in Italian...

hrp0095fc7.6 | Growth and Syndromes | ESPE2022

The Multifaceted Burden Experienced by Caregivers of Individuals With Bardet-Biedl Syndrome: Findings from the CARE-BBS Study

Forsythe Elizabeth , Mallya Usha M. , Yang Min , Caroline , Lynn Mary , Grea Ali , Po Jeremy , Haqq Andrea M.

Background: Caregivers of patients with Bardet Biedl syndrome (BBS) face substantial burden from highly prevalent features of the disease, namely hyperphagia, or uncontrollable hunger, and obesity. However, the burden experienced by caregivers of individuals with BBS is not well characterized.Methods: A multicountry cross-sectional survey of caregivers of individuals with BBS was conducted to quantify the burden experien...

hrp0095t8 | Section | ESPE2022

Caregiver Burden in Bardet-Biedl Syndrome: a Survey of Obesity and Hyperphagia Impacts

Forsythe Elizabeth , G. Mallya Usha , Yang Min , Huber Caroline , Lynn Cala Mary , Greatsinger Ali , Pomeroy Jeremy , M. Haqq Andrea

Background: Hyperphagia, or pathologic insatiable hunger, and early-onset obesity are prevalent clinical features of Bardet-Biedl syndrome (BBS), a rare genetic disorder. While hyperphagia and obesity have broad impacts on individuals with BBS and their caregivers, the extent of this burden is not well characterized.Methods: This multicountry cross-sectional survey of caregivers of individuals with BBS was conducted to q...

hrp0095p1-436 | Diabetes and Insulin | ESPE2022

Association of the apoptotic markers Apo1/Fas and cCK-18 and the adhesion molecule ICAM-1 with Type 1 diabetes mellitus in children and adolescents.

Kostopoulou Eirini , Efthymia Katsa Maria , Ioannidis Anastasios , Foti Maria , Dimopoulos Ioannis , Spiliotis Bessie , Paola Rojas Gil Andrea

Introduction: Type 1 diabetes mellitus (T1DM) is characterized by insulin-producing pancreatic β-cells loss. Apo1/Fas, a glycosylated surface protein, is implicated in maintaining homeostasis of the immune system. Cytokeratin-18 (cCK-18) is a predictive marker of liver disorders in T2DM. Intercellular adhesion molecule-1 (ICAM-1) is considered a candidate gene for susceptibility to diabetes mellitus. Aim: To investigate the possible role of Apo1/Fas, cCK-...

hrp0095p1-325 | Growth and Syndromes | ESPE2022

ERF mutation in a patient with Noonan-like phenotype, type 1 diabetes mellitus and epilepsy

Schiavariello Concetta , Tamburrino Federica , Piazza Francesca , Perri Annamaria , Maltoni Giulio , Rossi Cesare , Pession Andrea , Mazzanti Laura , Scarano Emanuela

ERF protein is a major binding target of ERK1/2 kinases, key effectors of the RAS–MEK–ERK signaling cascade. ERF has a role as a negative transcriptional regulator of RAS/MAPK mitogenic pathway (1) and, in theory, a loss-of-function mutation (LOF) in ERF could cause a Rasopathy phenotype. To date, LOF variants of ERF have been reported in 45 individuals with craniosynostosis but without a Noonan-like phenotype. There is only one case report describing a patient wit...

hrp0092p1-49 | Fat, Metabolism and Obesity | ESPE2019

Gut Microbiome of North-American Children with and without Prader-Willi Syndrome (PWS)

Afhami Shima , Tun Hein , Peng Ye , Liang Suisha , Deehan Edward , Madsen Karen , Gantz Marie , Triador Lucila , Walter Jens , Haqq Andrea

Introduction: Prader-Willi Syndrome (PWS), a common syndromic form of childhood obesity, is characterized by failure-to-thrive during infancy followed by progressive hyperphagia and obesity in childhood. The pathogenesis of hyperphagia and weight-gain in PWS is poorly understood and management strategies have had variable and limited success. Several studies support an etiological contribution of dysbiotic gut microbiota in the metabolic derangements of obesit...

hrp0092p2-75 | Diabetes and Insulin | ESPE2019

Insulin Treatment of Cystic Fibrosis Related Diabetes (CFRD) on BMI and Respiratory Function

Giugno Andrea , Lo Presti Donatella , Leonardi Salvatore , Parisi Giuseppe , Timpanaro Tiziana , Papale Mariella , Rotolo Novella , Sauna Alessandra , Caruso-Nicoletti Manuela

Cystic fibrosis related diabetes (CFRD) is one of the main complications of cystic fibrosis (CF), following inflammatory-degenerative damage of the pancreas. Aim of our study was to evaluate the effects of replacement insulin therapy in patients with cystic fibrosis complicated by overt diabetes or pre-diabetes on BMI and respiratory function. We selected a sample of 17 insulin treated patients (Group T) and a sample of 17 controls with CF but normal glucose metabolism (Group ...

hrp0092p2-287 | Thyroid | ESPE2019

Bone Homeostasis in Children with Subclinical Hypothyroidism: Effects of Two-years Treatment with Levothyoxine

Barbieri Flavia , Esposito Andrea , D'Acunzo Ida , Lorello Paola , Di Mase Raffaella , Improda Nicola , Capalbo Donatella

Background: Thyroid hormone plays a key role in bone mineral homeostasis and significant alterations in its circulating levels have been associated with an impairment in skeletal growth during childhood. To date, the effects of subclinical hypothyroidism (SH) on bones have not been studied and the management of this condition is still debated.Aim: To evaluate bone mineral density (BMD) in children with mild, persistent S...

hrp0089p3-p285 | Pituitary, Neuroendocrinology and Puberty P3 | ESPE2018

Panhypopituitarism with Tall Stature Diagnosed in a 20 Years Old Boy

Forrester Andrea , Cecchi Griselda , Perez Guadalupe , Soria Luciana , Masllorens Francisca , Juarez Sofia , Vallone P.M. Constanza , Grassi Magdalena

Background: Growth hormone plays a primary role in stimulating postnatal growth by way of insulin-like growth factor 1 (IGF1) which is produced in the liver in response to GH. A deficiency of GH arrests maturation during childhood, and the stature of such subjects is generally much shorter than the average stature. However, some cases of GH deficiency attain normal stature as adults.Case presentation: A 20 years old man was referred for a further evaluat...

hrp0089p1-p240 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology P1 | ESPE2018

Serum Anti-Mullerian Hormone (AMH) concentrations and Reduced Appendix Testis Estrogen Receptor Expression in Cryptorchidism

Panagidis Antonios , Kourea Helen , Sinopidis Xenophon , Kostopoulou Eirini , Rojas-Gil Andrea Paola , Skiadopoulos Spyridon , Georgiou George , Spiliotis Bessie E.

Objective: AMH causes fetal paramesonephric duct regression and is involved in testicular development and function. Sertoli cell AMH remains high during childhood until puberty. The appendix testis (AT), a remnant of the paramesonephric duct, contains both androgen and estrogen receptors. AT androgen receptors have been reported to play a role in embryonic testicular descent. The AT is commonly resected during orchiopexy and abdominal surgery as possible torsion in the future ...