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...

hrp0082p3-d1-958 | Sex Development | ESPE2014

17βHSD-3 Enzyme Deficiency in Newborn Due to a Novel Mutation in HSD17B3 Gene

Sagsak Elif , Aycan Zehra , Erdeve Senay Savas , Keskin Meliksah , Cetinkaya Semra , Karaer Kadri

Background: 17β-Hydroxysteroid dehyrogenase type 3 (17βHSD-3) deficiency is an autosomal recessive form of 46,XY disorder of sex development (DSD). 17βHSD-3 is present almost exclusively in the testes and converts androstenedione to testosterone. The diagnosis can be easily missed in early childhood as the clinical presentation may be subtle. The most frequent presentation of 17βHSD-3 deficiency is a 46,XY individual with female external genitalia, labial f...

hrp0084p1-12 | Bone | ESPE2015

Genetic Diagnosis Using Whole Exome Analysis in Two Cases with Malign Infantile Osteopetrosis

Demir Korcan , Nalbantoglu Ozlem , Karaer Kadri , Korkmaz Huseyin Anil , Yildiz Melek , Tunc Selma , Ozkan Behzat

Aim: Osteopetrosis is caused by autosomal mutations occurring in nine genes (TNFRSF11A, TNFSF11, TCIRG1, CLCN7, OSTM1, SNX10, PLEKHM1, CA2, and LRP5). Detecting the aetiology and providing genetic counselling via individual mutation analysis of all these genes is expensive and time consuming. Whole exome sequencing is currently increasingly used given that the cost and the time needed are similar to that of single gene sequencing analysis. Here, two newborns,...

hrp0089p3-p010 | Adrenals and HPA Axis P3 | ESPE2018

Lipoid Adrenal Hyperplasia Diagnosed with Severe Cholestasis in Newborn

Kaplan Emel Hatun Aytac , Melekoğlu Nuriye Aslı , Keskin Mehmet , Cağatay Derya , Karaer Kadri

Introduction: Congenital lipoid adrenal hyperplasia is the most severe form of congenital adrenal hyperplasia and is rarely seen. Steroid synthesis cannot be done in the adrenal gonads. Adrenal glands have hyperplasia and lipid accumulation. Male babies are born to girls. Most of the cases are lost with severe adrenal insufficiency. Patients diagnosed and treated at supraphysiological doses during neonatal period. Here we present a case of lipoid adrenal hyperplasia diagnosed ...

hrp0089p3-p377 | Thyroid P3 | ESPE2018

A Very Rare Thyroid Hormone Resistance Case Having Heterozygous Mutation in THRB Genes

Keskin Mehmet , Yılmaz Seniha Kiremitci , Kaplan Emel Hatun Aytac , Karaoğlan Murat , Karaer Kadri , Keskin Ozlem

Objective: Thyroid hormone resistance is a rare autosomal dominant disease. In the pathogenesis of this disease mutations have been reported in two types of thyroid hormone receptors, called alpha and beta. Deletions or mutations in cofactors required to demonstrate receptor effect also reported in the beta receptor gene. The symptoms vary according to the cases. Here; a case of thyroid hormone resistance which is noticed by chance and not treated is presented.<p class="ab...