hrp0084p3-797 | DSD | ESPE2015

Screening for Y Microdeletions in Patients with Hypergonadotropic Hypogonadism due to Disorder of Sexual Development

Karaoglan Murat , Keskin Mehmet , Keskin Ozlem

Introduction: Hypergonadotropic hypogonadism is mainly characterised by streak or dysgenetic gonads. It is primer gonadal insufficiency which occurs as a result of chromosome abnormalities, gonad developmental and steroid synthesis defects. However, Y microdeletions associated hypergonadotropic hypogonadism due to disorder of sexual development has been reported, there are no many studies. Moreover, it is not known enough to contribution for development of sexual ambiquity. Ai...

hrp0086p2-p286 | Diabetes P2 | ESPE2016

Atypical Cystic Fibrosis Adolescent Case Study (with Normal Sweat Test) Referring with Diabetes Mellitus Symptoms Found to Carry Homozygous R352Q Mutation

Keskin Mehmet , Keskin Ozlem , Bilgic Eltan Sevgi , Fatih Deveci Mehmet

Background: Cystic fibrosis is an autosomal recessive genetic disorder affecting typically the lungs, the pancreas, the gastrointestinal tract and tissues that produce mucus secretion, such as sweat glands. Impaired glucose tolerance and cystic fibrosis-related diabetes are the most common complications of cystic fibrosis. Cystic fibrosis-related diabetes is another type of diabetes mellitus and carries some of the characteristics of type1 and type2 diabetes.<p class="abst...

hrp0082p2-d3-489 | Endocrine Oncology | ESPE2014

Immunogenetics and Clinical Characteristics of Patients with the Most Common Organ-Specific Autoimmune Diseases: Evaluation in Respect of Gender and Autoimmunity

Karaoglan Murat , Keskin Mehmet , Keskin Ozlem , Ozturk Sibel

Background: Most of autoimmune disease such as type 1 diabetes (T1DM), autoimmune thyroiditis (AIT) and coeliac disease (CD) often coexist in the same patient. Although there are a lot of number of studies on autoimmunity against the thyroid glands and small bowel in patients with type 1 diabetes, little is known about pancreatic β-cell immunity in patients with AIT and CD.Objective and hypotheses: We studied autoimmune markers in children patients ...

hrp0084p3-804 | DSD | ESPE2015

A Practical and Integrative Approach to Differential Diagnosis between 46,XY Disorder of Sexual Development

Karaoglan Murat , Keskin Mehmet , Ozkur Ayhan , Keskin Ozlem

Introduction: 46,XY disorder of sexual development can cause clinical spectrum varying from complete female phenotype to isolated micropenis. However, the most common reasons are androgen synthesis and resistance, choromosome abnormalities, testicular dysgenesis, steroid synthesis defects, it is usually idiopathic. The accurate and differential diagnosis is crucial in respect of treatment, monitoring, sex determination, surgical correction. Moreover, it sometimes can be medica...

hrp0084p3-1161 | Puberty | ESPE2015

A Practical and Integrative Approach to Differential Diagnosis Between Precocious Puberty and Premature Telarch: Newly Proposed Clinical and Laboratory Finding-Based Diagnostic Scoring in Precocious Puberty and Premature Telarch

Karaoglan Murat , Keskin Mehmet , Ozkur Ayhan , Keskin Ozlem

Background: Accurate and differential diagnosis of preococious puberty (PP) have some important challenges. Many parameters have used to diagnose pubertal diseases so far. However LH-RH stimulation test is considered as a gold standard procedure, ıt has some difficulties in practise.Objective: We aimed to set a newly proposed clinical and laboratory finding-based diagnostic scoring in the differential diagnosis of preoccious puberty and premature te...

hrp0084p3-1167 | Puberty | ESPE2015

In a Severe Precocious Puberty Case Who Treated with Frequent Leuprolid Acetate Injections, a Rare Adverse Effect: Sterile Abscess

Keskin Mehmet , Karaoglan Murat , Demir Korcan , Keskin Ozlem

Introduction: GnRH analogues common used in precocious puberty are highly effective agents. The drug dose and injection frequency should be designed for each case. However these agents are common well tolerated, some rare adverse effects may be occur. We present a case of frequent leuprolid acetate injections-related sterile abscess.Case: The case was 16-month-old boy. He had rapid growth, big penis, and excessive pubic hair. These symptoms have appeared...

hrp0084p3-1192 | Thyroid | ESPE2015

The Comparing of Thyroid Volumes between Healthy and Obese Children in Respect of Anthropometric, Biochemical, and Metabolic Parameters

Keskin Mehmet , Karaoglan Murat , Balci Onur , Ozkur Ayhan , Keskin Ozlem

Objective: There have no been studies enough about thyroid volumes of obese and adolescent children. In this study, we purposed comparing of thyroid volumes in respect of anthropometric, biochemical, metabolic parameters in following groups: Overweight, obese, morbid obese, and healthy children.Method: Two groups were compared: The first group consisted of 190 children whose BMIs are above the 85th percentile. The second group was 90 children with normal...

hrp0089p3-p020 | Adrenals and HPA Axis P3 | ESPE2018

A Neonatal Case with Familial Glucocorticoid Deficiency Type 1 Having Adrenal Crisis in Early Period

Keskin Mehmet , Koklu Esat , Kaplan Emel H Aytac , Karaoglan Murat , Karaer Kadri , Keskin Ozlem

Objective: Familial glucocorticoid deficiency (ACTH resistance); is a rare chronic adrenal insufficiency problem. Genetic tranmission is autosomal recessive. Glucocorticoid deficiency is characterized by increased ACTH levels and normal or partial incomplete aldosterone production. The familial glucocorticoid deficiency, which is a defect in the melanocortin receptor. Hypoglycemia, convulsions, increased pigmentation in the skin can be seen from the earliest stages of life.</p...

hrp0089p3-p349 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology P3 | ESPE2018

Mother and Baby Diagnosed Noonan Syndrome with Dysmorphic Findings

Keskin Mehmet , Aytac Kaplan Emel H , Karaoglan Murat , Karaer Kadri , Keskin Ozlem

Objective: Noonan syndrome; is an autosomal dominant genetic disorder characterized by short stature, low hair line, webbed neck, cubitus valgus, chest wall deformities and congenital heart defects. Here; the patient was admitted to hospital by parents due to undescended testis and finally infant and mother were diagnosed Noonan syndrome.Case: A 14-month-old male patient was admitted to hospital because of bilateral undescended testis. On physical examin...

hrp0084p3-758 | Diabetes | ESPE2015

A Case of Tacrolimus Related Posttranslated Diabetes Mellitus (PTDM)

Keskin Mehmet , Karaoglan Murat , Kara Mehtap Akbalik , Buyukcelik Mithat , Keskin Ozlem

Background: Tacrolimus is highly potent immunosuppressant agent. Despite it is quite prophylactic effect on renal allogreft rejection, the most marked side effect of tacrolimus is lead to posttranslated diabetes mellitus. There are some predictive risk factors which are determined on development of tacrolimus related diabetes mellitus: Advanced age, familial history, genetic factors, ethnicity, impaired glucose tolerance or metabolic syndrome in pre-transplantation period, obe...