hrp0092p2-198 | Growth and Syndromes (to include Turner Syndrome) | ESPE2019

Evaluation of Diagnosis, Follow-up and Treatment Results of Growth Hormone in Rare Diseases; 10 Year Single Center Experience

Aycan Zehra , Arasli Yilmaz Aslihan , Yel Servet , Savas Erdeve Senay , Çetinkaya Semra

Introduction: Growth hormone therapy (GHT); have been used in rare diseases such as growth hormone deficiency (GHD), panhipopituitarism (PHP), intrauterine growth retardation (IUGR), Turner Syndrome(TS) for many years while the effects of diagnostic timing on the treatment results are known. However,data on the diagnosis and treatment processes of these diseases are limited in our country. The aim of this study was to evaluate the results of diagnosis, follow-...

hrp0086p2-p312 | Diabetes P2 | ESPE2016

A Novel Glucokinase Gen Mutation: Mody Type-2 Case

Arasli Yilmaz Aslihan , Elmaogullari Selin , Demirel Fatma , Tayfun Meltem , Ahmet Ucakturk Seyit , Gurbuz Fatih , Kemal Topaloglu Ali

Background: Maturity-Onset Diabetes of the Young (MODY) is a rare monogenic form of diabetes that result in β-cell dysfunction. MODY accounts for 2–5% of all diabetes cases. We presented here a family with MODY2 caused by a novel heterozygous p.L164I (c.490 C>A) mutation of the GCK gene.Case: A 15,5-year-old girl was admitted to our department because of fasting hyperglycemia. She had no polyuria, polydipsia and weight loss...

hrp0095p1-584 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2022

A Late Reperfused Ovarian Torsion Diagnosed as Acute Appendicitis in a Prepubertal Case

Arasli Yilmaz Aslihan , Elmaogullari Selin , Ozkaya Donmez Beyhan , Karaman Ibrahim , Uner Çigdem , Savas Erdeve Senay , Cetinkaya Semra

Introduction: Ovarian torsion (OT) occurs with partial or complete obstruction of blood flow as a result of rotation of the ovary around the infundibulopelvic ligament and/or utero-ovarian ligament. OT is very rare in the pediatric population. Although the most common form of presentation is abdominal pain, the unclear symptom profile in children can often result in missed diagnosis or late diagnosis. For the preservation of ovarian functions and future fertil...

hrp0092p3-180 | Multisystem Endocrine Disorders | ESPE2019

APECED Syndrome in Childhood: Rare Clinical Presentations to Keep in Mind

Arasli Yilmaz Aslihan , Elmaoğullari Selin , Muratoğlu Şahin Nursel , Savaş Erdeve Şenay , Aycan Zehra , Çetinkaya Semra

Introduction: APECED Syndrome; is a rare, autosomal recessive disease caused by mutations in the autoimmun regulatuar AIRE gene on the chromosome 21. Although classical triad is mucocutaneous candidiasis, hypoparathyroidism and adrenal insufficiency; endocrine / non-endocrine involvement may also be seen. Possible involvement should be evaluated without any clinical signs. We report a case of APECED syndrome with autoimmune hypophysitis secondary to growth hor...

hrp0095p2-24 | Adrenals and HPA Axis | ESPE2022

Long-Term Follow-Up of a Case with Clinical Image Syndrome

Okur Iclal , Arasli-Yilmaz Aslihan , Elmaogullari Selin , Karacan-Kucukali Gulin , Keskin Meliksah , Muratoglu-Sahin Nursel , Kurnaz Erdal , Savas-Erdeve Senay , Cetinkaya Semra

Introduction: IMAGE Syndrome (#614732) is an autosomal dominant inherited syndrome as a result of CDKN1C mutation characterized by the association of intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies. Here, long-term follow-up of a case with clinical IMAGE syndrome, no genetic mutation was detected, will be presented.Case: A three-month-old baby boy was brought wi...

hrp0095p1-122 | Growth and Syndromes | ESPE2022

A Case of Derivative Chromosome 1 Accompanied by Y Chromosome Deletion

Çetinkaya Semra , Görkem Erdoğan Nilay , Esen Senem , Özkaya Dönmez Beyhan , Arasli Yilmaz Aslihan , Elmaoğullari Selin , Okur İclal , Kurnaz Erdal , Savaş Erdeve şenay , Bakir Abdullatif

Introduction: Derivative chromosome is a rearrangement involving two or more chromosomes or the presence of multiple abnormalities in a single chromosome and always contains intact centromere. Segmental anomalies such as inversion or translocation in derivative chromosome may result in partial duplication or deletion during meiosis. Chromosomal translocations usually result in miscarriage and multiple anomalies (common neurodevelopmental defects, growth retard...