Searchable abstracts of presentations at key conferences in endocrinology

ea0049ep1241 | Thyroid (non-cancer) | ECE2017

Two pseudomalabsorbtion cases successfully treated with parenteral levothyroxine

Altuntaş Seher Cetinkaya , Evran Mehtap , Sert Murat , Tetiker Tamer

Hypothyroidism is a common endocrine disorder which is easily treatable by an appropriate thyroid hormone replacement therapy in the majority of patients. In some patients, hypothyroidism is refractory to oral levothyroxine substitution. Common causes of lack of response to levothyroxine replacement comprise non-compliance and impaired absorption. We report a case of pseudomalabsorption of levothyroxine. Here, we report two female patients with hypothyroidism who had multinod&...

ea0056p923 | Female Reproduction | ECE2018

Detection of SRY gene in patients with turner syndrome

Kurnaz Erdal , Cetinkaya Semra , Savas-Erdeve Senay , Aycan Zehra

Background: The presence of the Y chromosome and Y-specific sequences (e.g: SRY, DYZ1, DYZ3, DYS132, ZFY, and TSPY, etc) in Turner syndrome patients is a risk factor for gonadal tumors (mostly gonadoblastoma) in dysgenetic gonads. Unfortunately approximately 60% of gonadoblastoma cases, there is a potential to progress towards invasive germ cell tumors (mostly dysgerminoma). Girls with Y chromosomal material also present a higher risk of virilization...

ea0020p526 | Paediatric Endocrinology | ECE2009

Genetic characterization of children with isolated growth hormone deficiency in Turkish population

Arman Ahmet , Coker Ajda , Cetinkaya Ergun , Dundar Bumin , Siklar Zeynep , Sarioz Ozlem , Buyukgebiz Atilla

Background: Isolated growth hormone deficiency (IGHD) is a condition associated with the growth failure of children due to deficient growth hormone (GH) production and action. IGHD occurs in 1/4000 to 1/10 000 births and the most of cases are sporadic and idiopathic. Between 5 and 30% show familial pattern, suggesting a genetic etiology of disease. Mutations on GH-1 gene lead to growth failure and cause IGHD disease.Objective: Purpose of our research was...

ea0016p451 | Neuroendocrinology | ECE2008

Panhypopituitarism due to hemochromatosis: a case report

Ozkaya Mesut , Gisi Kadir , Cetinkaya Ali , Kantarceken Bulent , Cerit Mustafa , Sahin Murat , Koroglu Sedat

Introduction: Hemochromatosis is an iron storage disease characterized by iron deposition in parenchymal cells due to increased intestinal iron absorption. Iron overload leads to tissue damage and dysfunction particularly in the liver, pancreas, heart, joints, and pituitary gland. Panhypopituitarism is a clinical condition in which the anterior pituitary gland hormones are deficient. Herein we report a very rare case of panhypopituitarism due to hemochromatosis.<p class="a...

ea0049ep968 | Pituitary - Clinical | ECE2017

Investigation of the pituitary functions long-term after the acute CNS infections

Cetinkaya Gamze , Kilic Aysegul Ulu , Karaca Zuleyha , Doganay Mehmet , Yuce Z T , Unluhizarci Kursad , Kelestimur Fahrettin , Tanriverdi Fatih

Objectives: Acute bacterial or viral CNS infections have been shown to result in hypopituitarism during the acute phase, and 6–24 months after the event in a few studies. However, there are no data in the literature regarding the long term pituitary functions after acute CNS infections. This cross-sectional study was designed to evaluate the pituitary functions long-term after the acute bacterial or viral CNS infections.Methods: 19 patients with age...

ea0024oc2.6 | Oral Communications 2 (Brief Communications) | BSPED2010

Novel TSHR mutations in a large cohort of consanguineous families with congenital non-goitrous hypothyroidism

Cangul H , Aycan Z , Saglam H , Yakut T , Karkucak M , Bas V , Eren E , Yuca S , Demir K , Cetinkaya S , Kirby G A , Morgan N V , Forman J R , Tarim O , Bober E , Cesur Y , Kendall M , Hogler W , Barrett T G , Maher E R

Introduction: Non-syndromic autosomal recessively inherited non-goitrous congenital hypothyroidism (CHNG) can be caused by mutations in TSHR, PAX8, TSHB, and NKX2-5. We aimed to investigate mutational frequencies of these genes and genotype/phenotype correlations in consanguineous families with CHNG.Design: Since consanguinity in individuals with a presumptive genetic condition is often an indicator of an autosomal recessive inherita...