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...

hrp0095p1-280 | Fat, Metabolism and Obesity | ESPE2022

A rare cause of monogenic obesity: Schaaf-Yang syndrome due to a novel MAGEL2 gene variant

Yavas Abali Zehra , Arslan Ates Esra , Guran Tulay , Bereket Abdullah , Turan Serap

Background: Paternally expressed mono-allelic pathogenic variants in the MAGEL2 (melanoma antigen L2) gene cause Schaaf-Yang syndrome (SHFYNG), a multisystem disorder with psychomotor delay, intellectual disability, behavioral abnormalities, and obesity. Severity of the disease is highly variable, some patients may die in utero and some can live with moderate disabilities. MAGEL2 gene is located in the 15q11.2– q13 region which includes...

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...

hrp0095p1-415 | Adrenals and HPA Axis | ESPE2022

Basal cortisol measurements in the prediction of low-dose ACTH stimulation test outcomes

Gacemer Hazal , Gurpinar Tosun Busra , Yavas Abali Zehra , Helvacioglu Didem , Haliloglu Belma , Turan Serap , Bereket Abdullah , Guran Tulay

Background: Low-dose adrenocorticotropic hormone stimulation test (LDST) is widely used to assess patients for adrenal insufficiency. However, the predictive power of basal cortisol for the performance of LDST is not clear.Objective: To determine the appropriate basal serum cortisol cutt-off values that predict a positive or negative LDST.Design: A single-centre retrospective study...

hrp0095p1-351 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

Evaluation of Early Puberty in Patients with MC2R Deficiency

Karakilic Ozturan Esin , Bas Firdevs , Yavas Abali Zehra , Karaman Volkan , Poyrazoğlu Sukran , Oya Uyguner Zehra , Darendeliler Feyza

Background: Melanocortin receptor 2 (MC2R) is expressed in the adrenal cortex and has a major role in the control of the hypothalamic-pituitary-adrenal axis. It is reported that the ACTH receptor MC4R has an impact on premature adrenarche. The melanocortin signaling system is reported to have leptin mediated effect on the regulation of GnRH neuron activity and has an important role in the onset of puberty and fertility.Objective:...

hrp0095p1-173 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2022

Differences due to the variant type in the inheritance pattern of BMP15 gene-related primary ovarian insufficiency: a girl with a homozygous null BMP15 gene variant

Yavas Abali Zehra , Arslan Ates Esra , Eltan Mehmet , Gurpinar Tosun Busra , Bereket Abdullah , Guran Tulay , Turan Serap

Background: Bone morphogenetic protein 15 (BMP15), is an oocyte-specific growth factor, that regulates folliculogenesis and ovulation rate. It is encoded by the BMP15 gene (chromosome Xp11.2), in which heterozygous missense variants in the precursor or mature peptide cause primary ovarian insufficiency (POI) with the dominant-negative effect. BMP15-related ovarian dysgenesis (OD) constitutes 1.5-2.0% of POI. The underlying mechanism ...

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...