hrp0092p3-80 | Diabetes and Insulin | ESPE2019

A Real-Life Experience with a New Insulin Co-Formulation Degludec/Aspart for one Year in Poorly Controlled Children and Adolescents with Type 1 Diabetes

kirkgoz tarik , Eltan Mehmet , Betul Kaygusuz Sare , yavas abali Zehra , Guran Tulay , Bereket Abdullah , Turan Serap

Achieving optimal metabolic control can be extremely challenging in some children and adolescents with T1DM. The adherence to multiple injections/day is among the leading causes of suboptimal control. Recently insulin degludec/aspart co-formulation (70%IDeg+30%IAsp: IDegAsp) has become available. Because of the longer-duration of IDeg, and retained individual pharmacokinetics of IDeg and IAsp, we wanted to test insulin IDegAsp's efficacy in our patients with po...

hrp0089p3-p030 | Adrenals and HPA Axis P3 | ESPE2018

Delayed Diagnosis of a Patient with Antley-Bixler Syndrome

Kirkgoz Tarik , Bas Serpil , Yavas Abali Zehra , Turan Serap , Bereket Abdullah , Guran Tulay

Objective: Antley-Bixler syndrome Type 1 (ABS1) is a rare form of craniosynostosis characterized by multiple dysmorphic features, radio-humeral synostosis and urogenital abnormalities due to P450 oxidoreductase (POR) gene mutations. ABS is also associated with adrenal and gonadal failure which are sometimes underrecognized due to predominance of skeletal findings in various clinics. We report a female patient with very characteristic skeletal and facial features of AB...

hrp0094p1-102 | Adrenal B | ESPE2021

Correlation of 11-oxygenated C19 androgens with the clinical and biochemical characteristics in premature adrenarche

Yavas Abali Zehra , Eltan Mehmet , Helvacioglu Didem , Yaman Ali , Turan Serap , Bereket Abdullah , Guran Tulay ,

Background: Premature adrenarche (PA) is defined as the appearance of pubic and/or axillary hair in girls younger than 8 years old and caused by the rise in adrenal androgen production including dehydroepiandrosterone (DHEA), dehydroepiandrosterone sulfate (DHEAS), and androstenedione (A4). DHEAS≥40 µg/dL is accepted as the biochemical marker of adrenarche. However, adrenals also produce 11-oxygenated C19 androgens such as 11β-hydroxyandrostene...

hrp0086p1-p218 | Diabetes P1 | ESPE2016

Clinical Characteristics and Molecular Analysis of Patients with Neonatal Diabetes

Yavas Abali Zehra , Bundak Ruveyde , Bas Firdevs , De Franco Elisa , Genens Mikayir , Poyrazoglu Sukran , Ellard Sian , Hattersley Andrew , Darendeliler Feyza

Background: Neonatal diabetes mellitus (NDM) is a form monogenic diabetes diagnosed under 6 month of age.Objective and hypotheses: To describe the clinical and molecular features of NDM patients in a Turkish cohort.Method: Fifteen patients (13M, 2F) with diabetes onset before 6 months of age were included in the study. Clinical and molecular data were evaluated retrospectively.Results: Mean age at diagnosis w...

hrp0089p2-p050 | Bone, Growth Plate & Mineral Metabolism P2 | ESPE2018

Osteoporosis-pseudoglioma Syndrome (OPPG): Improvement of Osteoporosis on Biphosphonate Therapy

Karakilic Ozturan Esin , Altunoglu Umut , Derya Kardelen Asli , Yavas Abali Zehra , Avci Sahin , Kayserili Karabey Hulya , Poyrazoglu Sukran , Bas Firdevs , Darendeliler Feyza

Background: Osteoporosis-pseudoglioma syndrome (OPPG), rare autosomal recessive entity, is characterized by juvenile osteoporosis, bone deformities, neuromotor retardation, and congenital blindness. This syndrome is due to the loss-of-function mutation in LRP5 (Low-density lipoprotein receptor-related protein 5). Here report four cases from three families, with confirmed molecular diagnosis who showed improvement of osteoporosis improved with biphosphonate therapy.<p class...

hrp0094p2-278 | Growth and syndromes (to include Turner syndrome) | ESPE2021

Effects of growth hormone therapy on serum concentrations of IGF-1 in patients with Turner syndrome: High IGF-1 concentrations despite optimal dose?

Karakilic Ozturan Esin , Karagoz Nurinisa , Ceylaner Serdar , Pinar Ozturk Ayse , Derya Kardelen Al Aslı , Yavas Abali Zehra , Poyrazoglu Sukran , Bas Firdevs , Darendeliler Feyza ,

Introduction: Growth hormone (GH) treatment is used to accelerate growth in patients with Turner syndrome (TS). During treatment, evaluation of IGF-1 is strongly recommended for efficacy and safety. Some patients, despite optimum GH doses, have persistent high IGF-1 levels. In this study, we aimed to evaluate the relationship between IGF-1 levels, IGF1R and growth responses of TS patients on GH treatment.Method: 54 patie...

hrp0089p1-p016 | Adrenals and HPA Axis P1 | ESPE2018

Recurrent Hypoglycemia in a Preschooler Girl with Overgrowth: Isolated ACTH-Deficiency with a Novel TPIT Mutation

Abali Zehra Yavas , Yesil Gozde , Kirkgoz Tarik , Kaygusuz Sare Betul , Turan Serap , Bereket Abdullah , Guran Tulay

Objective: Congenital isolated ACTH deficiency (IAD) is a rare autosomal recessive disorder that is characterised by low levels of plasma ACTH and cortisol with normal pituitary structure and hormones. Clinical presentation can occur in the neonatal period, as well as later in childhood. Here, we report a patient with IAD due to a novel TPIT mutation.Case: A 48/12 years old girl presented with loss of concioussness and found to be hypoglycemic...

hrp0086p1-p731 | Pituitary and Neuroendocrinology P1 | ESPE2016

Precocious Puberty in Patients with Primary Adrenal Insufficiency due to Melanocortın Receptor 2 Mutation

Bas Firdevs , Abali Zehra Yavas , Guran Tulay , Genens Mikayir , Poyrazoglu Sukran , Bundak Ruveyde , Darendeliler Feyza

Background: Precocious puberty has a complex and polygenic etiology. To describe genetic factors affecting onset and regulation of puberty and pathophysiology of precocious puberty, further studies are needed. Although, it is reported that ACTH receptor MC4R has impact on premature adrenarche, MC2R is expressed in the adrenal cortex and has a major role on the control of hypothalamo-pituitary-adrenal cortex. Melanocortin signaling system is reported to have l...

hrp0086p2-p775 | Pituitary and Neuroendocrinology P2 | ESPE2016

Effect of Gonadotropin Releasing Hormone Analogues (GnRHa) on Final Height in Girls with Borderline Early Puberty or Normal Physiological Puberty Depend on Bone Age Advancement and Predicted Height

Hizli Zeynep , Bas Firdevs , Poyrazoglu Sukran , Genens Mikail , Abali Zehra Yavas , Bundak Ruveyde , Darendeliler Feyza

Background: Borderline precocious and normal-onset puberty can show slow or fast course. The fast development of pubertal signs can be resulted in decrease in final height (FH) via accelerated growth and bone maturation.Objective and hypotheses: To study the effectiveness of GnRHa in improving FH in girls with advanced bone age (BA) and decreased predicted height (PH) in borderline early or normal physiological puberty.Method: 135 ...

hrp0086p2-p845 | Syndromes: Mechanisms and Management P2 | ESPE2016

The 3M Syndrome: A Cause of Pre- and Post-Natal Severe Growth Retardation

Genens Mikayir , Altunoglu Umut , Bas Firdevs , Poyrazoglu Sukran , Abali Zehra Yavas , Bundak Ruveyde , Darendeliler Feyza

Background: 3-M syndrome is an autosomal recessive growth disorder characterised by severe pre- and post-natal growth retardation caused by mutations in CUL7, OBSL1 or CCDC8. Clinical characteristics include dysmorphic facial features and fleshy prominent heels with a variable degree of radiological abnormalities.Objective and hypotheses: Evaluation of four new patients from two different families. Cases:Family-1/Patients-1,2: Two ...