hrp0094p2-222 | Fat, metabolism and obesity | ESPE2021

Design of a Phase 2, Double-Blind, Placebo-Controlled Trial of Setmelanotide in Patients With Genetic Variants in the Melanocortin-4 Receptor Pathway

Farooqi Sadaf , Wabitsch Martin , Chung Wendy , Ohayon Olga , Scimia Cecilia , Yuan Guojun , Shah Bhavik , Stewart Murray ,

Background: Rare genetic causes of obesity include variants in genes within the melanocortin-4 receptor (MC4R) pathway, a principal regulator of energy balance. Weight and hunger reductions following treatment with the MC4R agonist setmelanotide have been demonstrated in patients with obesity due to variants in multiple genes, including POMC, LEPR, SRC1, and SH2B1. We describe a trial design of setmelanotide in patients with addition...

hrp0086rfc8.7 | Growth: Clinical | ESPE2016

Safety and Tolerability of Once-Weekly Administration of CTP-Modified Human Growth Hormone (MOD-4023): 24-month Complete Dataset Results of a Phase 2 Study in Children with Growth Hormone Deficiency

Zelinska Nataliya , Skorodok Julia , Malievsky Oleg , Rosenfeld Ron G. , Zadik Zvi , Koren Ronit , Vander Shelly , Hart Gili , Radziuk Klaudziya

Background: Daily injections are currently required for growth hormone (GH) replacement therapy, which may cause poor compliance, inconvenience and distress for patients. MOD-4023 is a CTP-modified human GH (hGH) developed for once-weekly administration in growth hormone deficient (GHD) adults and children.Objective and hypotheses: In the present Phase 2 study, the safety and tolerability of once-weekly subcutaneous (SC) administration of MOD-4023 were a...

hrp0086rfc8.8 | Growth: Clinical | ESPE2016

Efficacy of Once-Weekly Administration of CTP-Modified Human Growth Hormone (MOD-4023): 24-month Complete Database Results of a Phase 2 Study in Children with Growth Hormone Deficiency

Zelinska Nataliya , Skorodok Julia , Malievsky Oleg , Rosenfeld Ron G. , Zadik Zvi , Koren Ronit , Vander Shelly , Hart Gili , Raduk Dmitri

Background: Growth hormone (GH) replacement therapy currently requires daily injections, which may cause poor compliance, inconvenience and distress for patients. CTP-modified hGH (MOD-4023) has been developed by OPKO Biologics for once-weekly administration in growth hormone-deficient (GHD) adults and children.Objective and hypotheses: The 24-month efficacy of once-weekly subcutaneous (SC) administration of MOD-4023 was evaluated in a Phase 2 study in G...

hrp0082p1-d1-147 | Growth | ESPE2014

The Role of SHOX Gene in Idiopathic Short Stature: an Italian Multicenter Study

Minari R , Vottero A , Azzolini S , Barbaro D , Bindi G , Bozzola M , Burrai C , Cardinale G M , Cioffi D , Cisternino M , Coccioli M S , Delvecchio M , Fabbrizi E , Ferrari M , Gallarotti F , Gallo F , Ghizzoni L , Maggio M C , Mainetti B , Montinaro R , Municchi G , Panariello A , Parpagnoli M , Perrone L , Petraroli M , Radetti G , Radicioni A F , Rossodivita A , Salerno MC , Savasta S , Seminara S , Tafi L , Tomat M , Tummolo A , Wasniewska M , Iughetti L , Bernasconi S

Background: The short stature homeobox-containing (SHOX) gene, located in the telomeric pseudoautosomal region 1 (PAR1) on the short arm of both sex chromosomes, is important for linear growth.Objective and hypotheses: The aim of our study was to evaluate the presence of SHOX gene deletions/point mutations in children with short stature in order to understand the role of SHOX gene in idiopathic short stature (ISS) and estimate its frequency.<p class=...

hrp0084p2-526 | Puberty | ESPE2015

Serum AMH Levels are Lower in Healthy Boys Who Develop Pubertal Gynaecomastia

Mieritz Mikkel G , Hagen Casper P , Almstrup Kristian , Petersen Jorgen H , Raket Lars L , Sommer Stefan H , Juul Anders

Background: Pubertal gynaecomastia is thought to be a clinical sign of an oestrogen-androgen imbalance, affecting up to 60% of boys. In most cases no underlying endocrinopathy can be identified. In boys, Anti-müllerian hormone (AMH) is produced by immature Sertoli cells and circulating level decreases as testosterone increases during pubertal maturation. In a previous cross sectional study we found significant lower levels of AMH in boys with pubertal gynaecomastia (Mieri...

hrp0084p3-675 | Bone | ESPE2015

Pseudohypoparathyroidism Type 1b, a Rare Diagnosis in Adolescents

Vlachopapadopoulou Elpida-Athina , Dikaiakou Eirini , Karavanaki Kyriaki , Anagnostou Elli , Tsitoura Maria-Eleni , Tsolia Mariza , Mackay Deborah J G , Michalacos Stephanos

Background: Pseudohypoparathyroidism (PHP) is a rare group of disorders characterised by end-organ resistance to parathyroid hormone (PTH), and possibly TSH, with or without features of Albright’s hereditary osteodystrophy.Case presentation: A 14-year-old boy presented with fatigue and spontaneous carpal spasms in association with a febrile viral infection. Past medical history was significant for an episode of asymptomatic hypocalcemia treated with...

hrp0084p2-333 | Fat | ESPE2015

Leptin Replacement Improves Central Ventilation in a Patient with Congenital Leptin Deficiency: First Report in Childhood

Lucaccioni Laura , Davies Philip L , Gibson Neil A , Farooqi Sadaf , Shaikh M Guftar

Background: Congenital leptin deficiency (CLD) is characterized by severe early-onset obesity due to hyperphagia and impaired satiety. The impact of obesity in obstructive sleep apnoea hypopnoea syndrome (OSAHS) was originally reported as mechanical, but recent data suggest that adipokines may influence central ventilation. We highlight that treatment with recombinant human leptin (RHL) in CLD with OSAHS improves ventilation before weight loss.Case prese...

hrp0094fc8.5 | Neuroendocrinology | ESPE2021

Bardet-Biedl Syndrome: A retrospective study of progression through puberty

Whitehead Jennifer , Schoeneberg Dillon , Sparks Kathryn , Forsythe Elizabeth , Beales Philip , Peters Catherine , Dastamani Antonia , Katugampola Harshini ,

Introduction: Bardet-Biedl syndrome (BBS) is a rare, pleiotropic, autosomal recessive disorder, with prevalence between 1 in 100,000 – 160,000 in Europe and the USA. It is characterised by 6 cardinal features: rod-cone dystrophy, truncal obesity, cognitive impairment, hypogonadism and genitourinary anomalies, postaxial polydactyly and renal dysfunction, as well as a plethora of secondary features spanning multiple body systems. BBS belongs to a family of ...

hrp0092p3-243 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology | ESPE2019

Etiologic Classification of 46, XY Disorders of Sexual Differentiation According to Chicago Consensus: Single Center Results

Güven Ayla

Objective: The aim of the study was to describe the etiologic diagnosis, clinical characteristics in children with 46,XY disorder of sexual development (DSD).Methods: The 125 46, XY patients were included the retrospective study. The definitive diagnosis was made by presentations and clinical findings, gonadal morphology and genital anatomy of patients, basal and stimulated hormone results, imaging methods and molecular ...

hrp0092p1-143 | Thyroid | ESPE2019

Biotine Interference in a Patient with Non-Clinic High Thyroid Hormone Levels

Ayranci Ilkay , Filibeli Berna Eroglu , Manyas Hayrullah , Dündar Bumin Nuri , Çatli Gönül

Introduction: Differential diagnosis of thyroid hormone resistance (beta) and TSHoma should be made in patients with high free thyroxine (f-T4) and free triiodothyronine (f-T3) and non-suppressed thyroid stimulating hormone (TSH) levels. The aim of this study was to present the results of etiological research in a patient with Down syndrome who was clinically euthyroid and had high levels of f-T4, f-T3, normal TSH levels.Case</st...