hrp0092p3-106 | Fat, Metabolism and Obesity | ESPE2019

Phenotypic and Genotypic Properties of Children with Suspicion of Monogenic Obesity

Ayranci Ilkay , Çatli Gönül , Eroğlu Filibeli Berna , Yiğit Gülşahin Elif , Özyilmaz Berk , Manyas Hayrullah , Nuri Dündar Bumin

Results: Total of 47 obese patients (20 females, 39 pubertals, mean age of 14.3 years).±3.2 years) were included in the study. Severe obesity present in 85% of patients, early-onset obesity in 51%, consanguinity among parents in 17%, and at least one parent with obesity in 63.8% were present. 55.3% of the patients had a family history of diabetes, 63% had acanthosis nigricans and 77% had striae. Anthropometric and laboratory ch...

hrp0092p3-159 | Growth and Syndromes (to include Turner Syndrome) | ESPE2019

Three Cases with Familial Short Stature: Leri-Weill Syndrome

Ayranci Ilkay , Çatli Gönül , Eroğlu Filibeli Berna , Manyas Hayrullah , Bekir Kutbay Yaşar , Koç Altuğ , Nuri Dündar Bumin

Introduction Objective: The SHOX gene is located in pseudoautosomal region of chromosomes of Xp22.33 and Yp11.32. It plays role in proliferation and differentiation of epiphyseal chondrocyte. Leri-Weill syndrome is observed with loss of an allele, while missense mutations lead to idiopathic short stature without any dysmorphic findings. This report presents clinical features of three cases diagnosed with Leri-Weill syndrome, and their responses to rhGH treatme...

hrp0089fc9.3 | Pituitary, neuroendocrinology and Puberty 1 | ESPE2018

Mutations in MAGEL2 and L1CAM are Associated with Congenital Hypopituitarism and Arthrogryposis

Gregory Louise C , Pratik Shah , Sanner Juliane RF , Arancibia Monica , Hurst Jane , Jones Wendy D , Spoudeas Helen , Le Quesne Stabej Polona , Ocaka Louise , Loureiro Carolina , Martinez-Aguayo Alejandro , Williams Hywel , Dattani Mehul T

Background: Congenital hypopituitarism (CH), involving deficiencies in one or more anterior pituitary hormones, is rarely observed in combination with severe joint contractures, termed arthrogryposis. Schaaf-Yang syndrome (SHFYNG), which has phenotypic overlap with Prader-Willi syndrome, may be associated with arthrogryposis. L1 syndrome, a group of X-linked disorders including hydrocephalus and spasticity of the lower limbs, may also present with generalized contractures in r...

hrp0089p3-p398 | GH & IGFs P3 | ESPE2018

Recombinant Growth Hormone Therapy in Prepubertal Children with Idiopathic Short Stature in Korea: A Phase III Randomized Trial

Im Minji , Kim J , Suh B-K , Ko CW , Lee K-H , Shin CH , Hwang JS , Kim HS , Chung WY , Kim CJ , Han H-S , Kwon NY , Cho SY , Yoo H-W , Jin D-K

Several studies have evaluated the effects of growth hormone (GH) on auxological and biochemical parameters in children with non-GH-deficient, idiopathic short stature (ISS). This study evaluated the efficacy and safety of GrowtropinR-II (recombinant human GH) in Korean patients with ISS. This was a 1-year, open-label, multicenter, phase III randomized trial of Growtropin-II in Korean patients with ISS. In total, 70 prepubertal subjects (39 males, 31 females) betwee...

hrp0089p1-p181 | Growth & Syndromes P1 | ESPE2018

Long Term Effects of Childhood Growth Hormone Treatment on Height and Body Mass Index in Adolescents and Adults with Silver-Russell Syndrome

Lokulo-Sodipe Oluwakemi , Canton Ana P. M. , Giabicani Eloise , Ferrand Nawfel , Child Jenny , Wakeling Emma L. , Binder Gerhard , Netchine Irene , Mackay Deborah J.G. , Inskip Hazel M. , Byrne Christopher D. , Davies Justin H. , Temple I. Karen

Growth hormone (GH) is commonly used during childhood to treat short stature in Silver-Russell syndrome (SRS), but final height and long-term body mass index (BMI) data are limited.Objective: To evaluate height and BMI in older individuals with molecularly confirmed SRS and compare those previously treated with GH to those untreated.Methods: Growth data on individuals aged ≥13 years with SRS were evaluated from UK, French and...

hrp0094fc8.6 | Neuroendocrinology | ESPE2021

Efficacy and Safety of Corifollitropin Alfa in Combination with Human Chorionic Gonadotropin for Initiation or Restoration of Puberty in Adolescent Males Aged 14 to < 18 Years with Hypogonadotropic Hypogonadism

Shankar R. Ravi , Shah Suneri , Joeng Hee-Koung , Mendizabal Geraldine , Guan Yanfen , Stegmann Barbara J. , Nieschlag Eberhard , Behre Hermann M. , Swerdloff Ronald S. , Fox Michelle C. , Kaufman Keith D. ,

Background: Combinations of follicle-stimulating hormone (FSH) and human chorionic gonadotropin (hCG) have been successful in treating males with hypogonadotropic hypogonadism (HH). The aim of this study was to investigate the efficacy and safety of corifollitropin alfa (CFA), a long-acting FSH analog, combined with hCG to induce testicular growth and pubertal development in adolescent males with HH.Methods: This was a 6...

hrp0094p1-146 | Sex Endocrinology and Gonads B | ESPE2021

Reaching a definitive diagnosis of hypogonadotropic hypogonadism – experience of a multidisciplinary diagnostic service

Patjamontri Supitcha , Alimussina Malika , Diver Louise A , McMillan Martin , McNeilly Jane D , K Lucas-Herald Angela , Freel Marie , Jones Greg , Kernohan Andrew , Lindsay Robert , McGowan Neil , Perry Colin , Sastry Aparna , Shaikh M Guftar , Tobias Edward S , McGowan Ruth , Ahmed S Faisal ,

Introduction: Hypogonadotropic hypogonadism (HH) is a rare condition, where a definitive diagnosis is often hard to reach.Objectives: To describe the clinical, biochemical and genetic findings in cases with suspected HH in the West of Scotland who were referred for genetic analysis between 2016 and 2020.Methods: Information was collected on clinical assessment including family hist...

hrp0094p1-161 | Growth B | ESPE2021

Continued Safety and Efficacy of Weekly Lonapegsomatropin (TransCon hGH) for up to Two Years in Children with Growth Hormone Deficiency (GHD)

Aghajanova Elena M. , Casella Samuel J. , Nadgir Ulhas , Hofman Paul , Saenger Paul , Song Wenjie , Mao Meng , Chessler Steven , Komirenko Allison S. , Beckert Michael , Shu Aimee D. , Thornton Paul S. , Maniatis Aristides K. ,

Lonapegsomatropin (TransCon hGH) is an investigational once-weekly prodrug of somatropin for the treatment of GHD. Previous trials in treatment-naïve (52-week heiGHt Trial) and treatment-experienced children (26-week fliGHt Trial) have reported the efficacy and safety of lonapegsomatropin. Subjects were eligible to enter the open-label extension enliGHten Trial, which continues to evaluate weekly lonapegsomatropin in pediatric GHD. In heiGHt, treatment-naïve subjects...

hrp0094p2-1 | Adrenals and HPA Axis | ESPE2021

Circadian rhythm of salivary cortisol and cortisone in school-aged children born very preterm and adequate for gestational age

Ochoa Maria Fernanda , Dominguez Gonzalo , Poggi Helena , Martinez Alejandro , Moore Rosario , Garcia Hernan , D’apremont Ivonne , Allende Fidel , Solari Sandra , Campino Carmen , Fardella Carlos , Baudrand Rene , Carvajal Cristian ,

Introduction: Higher evening cortisol level has been previously described in very preterm infants, possibly reflecting increased Hypothalamic-Pituitary-Adrenal Axis (HPA) tone or alterations in HPA regulation throughout the day. These relatively subtle differences in HPA axis function in preterm compared to full-term children may become meaningful in terms of metabolic risk later in life if sustained over time. Still, only a few studies have investigated wheth...

hrp0097p1-34 | Diabetes and Insulin | ESPE2023

Evaluation of Mitochondrial Bioenergetic Function in Mitochondrial and Type 1 Diabetes

Gurpinar Tosun Busra , Francisco Annelise , D. C. Navarro Claudia , Seven Menevse Tuba , Polat Hamza , Ozturk Hismi Burcu , Kahveci Ahmet , Turan Serap , Haliloglu Belma , Mine Yilmaz Ayse , Karademir Yilmaz Betul , Bereket Abdullah , F. Castilho Roger , Guran Tulay

Background and hypothesis: Mitochondrial disorders are multisystemic conditions associated with sensorineural hearing loss, encephalomyopathy, lactic acidosis, and non-autoimmune diabetes. The majority of molecular etiologies involve mutations in the genes encoding the oxidative phosphorylation system's components. Superoxide generation is significantly increased and causes oxidative damage in the affected tissues in these disorders. The establishment of ...